Neuromuscular Program

_____________________________ Neuromuscular Program A Program of the University of Iowa Department of Pediatrics, in cooperation with the Iowa Department of Public Health _____________________________ Annual Report: July 2007-June 2008 Prepared By: Christina Trout, RN, MSN Advanced Practice Nurse Division of Child Neurology Department of Pediatrics Linda Boehmer, RN, BSN Staff Nurse Department of Nursing Katherine Mathews, MD Associate Professor Division of Pediatric Neurology Departments of Pediatrics & Neurology Introduction Iowa Neuromuscular Program Overview The Neuromuscular Program was first conceptualized by Doctor Hans Zellweger in the 1970’s. Dr. Zellweger identified a need for specialized care for individuals with neuromuscular disease and he envisioned a team of healthcare providers who could attend to the many challenges faced by these families. He recognized the limited resources available across Iowa to accommodate their specialized needs. The team of neuromuscular healthcare providers has not changed greatly from that time and includes a neuromuscular physician, a nurse, physical therapist and a consulting social worker. The Neuromuscular and Related Genetic Disease Program for the state of Iowa was officially established with the Iowa Department of Public Health in the mid 1980’s. The INMP is legislated under the Iowa Administrative Code, Chapter 4:641-4.6 (80 GA, HF2362). The program participates in the Center for Congenital and Inherited Disorders Advisory Committee. The purposes of the INMP are • to provide neuromuscular healthcare services and education for individuals and families with neuromuscular disorders • to provide information about neuromuscular disorders to healthcare providers, educators and others in their communities. Neuromuscular services encompass a broad range of activities. Examples include but are not limited to diagnostic evaluation, case management of healthcare problems, patient education and genetic counseling, physical therapy, psychosocial support, community education and connection to research opportunities. Through these services, patients gain access to specialized healthcare, efficient and accurate diagnosis, decreased morbidity, improved quality of life and knowledgeable communities. Introduction to specific neuromuscular diseases Neuromuscular disorders affect individuals of all ages, socioeconomic backgrounds and ethnicity. There are many forms of neuromuscular disease, including disorders of the muscle (myopathies), nerve (neuropathies) and neuromuscular junction. There are many different types of myopathy. Examples include congenital myopathy, myotonic disorders and muscular dystrophies. Muscular dystrophy refers to a group of inherited disorders marked by progressive weakness and degeneration of muscle tissue. Brief descriptions of a few of the common disorders seen in the Neuromuscular Program follow. The most common muscular dystrophy is Duchenne muscular dystrophy (DMD), which affects males. Symptoms begin in the first 5 years of life and progress steadily. Thirty percent of males with DMD also have mental retardation. Boys usually lose the ability to walk by age 12 and require the use of power wheelchairs by age 14. Although life may be extended with the use of mechanical ventilation, historically, nearly 95% of these individuals die from respiratory insufficiency or heart failure before the age 22. A less severe form of this disorder is Becker muscular dystrophy (BMD), with onset of symptoms ranging from childhood to adulthood. Life expectancy and level of disability are variable. Both Duchenne and Becker muscular dystrophies are caused by genetic alterations in the dystrophin gene on the X chromosome. Women are usually silent carriers of these gene changes. One half of a carrier woman’s male offspring will have the disease. Approximately one third of boys with Duchenne muscular dystrophy did not inherit the disorder, but have the gene alteration as a new genetic mutation. Thus, eradication of the disorder is unlikely. Limb-girdle muscular dystrophies (LGMD) presents in childhood or adulthood with limb and girdle weakness. This group of diseases affects males and females equally. LGMD is caused by mutation in one of more than 17 different genes, and is characterized by weakness of the shoulder and hip muscles, with progression to the rest of the body. The rate of progression and severity of disability is extremely variable. Myotonic dystrophy affects individuals of all ages, but is most debilitating when symptomatic in infancy or childhood. Myotonic dystrophy is a multisystem disease that affects the muscles, central nervous system, heart, eyes and endocrine glands. The severe form (congenital myotonic dystrophy) causes profound weakness, difficulty 2 sucking and swallowing, impaired breathing and mental retardation. The severity of this disorder often increases with each generation, particularly when passed through mothers. Spinal muscular atrophy (SMA) is a motor neuronopathy, which is a disease of the neurons in the spinal cord. There is a spectrum of severity, ranging from a type fatal in early infancy to a type characterized by weakness that is slowly progressive so that patients are able to walk in adulthood. The juvenile form is slower to progress, but leads to loss of ambulation in childhood or young adult life. This disorder is inherited in an autosomal recessive pattern, thus affects males and females equally. There are also many forms of neuropathies, commonly referred to as Charcot-Marie-Tooth disease, hereditary motor and sensory neuropathies or peroneal muscular atrophy. These disorders affect the nerves of the feet, lower legs and hands, resulting in weakness and loss of sensation. While they vary in severity, this group of disorders usually does not result in loss of ability to walk or shortened life expectancy. Affecting approximately 4 in 10,000 people, it is a very common genetic problem. The 2004 Iowa Neuromuscular Program Needs Assessment The 2004 Iowa Neuromuscular Program Needs Assessment provides a comprehensive description of services, clients and activities of the Neuromuscular Program. This assessment is completed every 5 years as mandated by the Neuromuscular and Related Genetic Disease Programs Contract with the Iowa Department of Public Health, Special Conditions for Contracts. The report is to have limited scope and not take time away from delivery of patient care. This report is available at http://www.idph.state.ia.us/genetics/neuromuscular_related.asp. This report addresses the following focus areas, as required by the contract: 1) utilization of neuromuscular services 2) evaluation of existing services to assess quality, effectiveness and impact on the population served identification of under-served and at risk populations 3) development of recommendations, priorities and proposed strategies to address identified needs, unmet needs and gaps in services 4) assessment of educational services to the general public, healthcare providers and others as they pertain to neuromuscular and related disorders. Neuromuscular Program Annual Report The following report summarizes the Neuromuscular Program activities for the past fiscal year. It focuses on changes, trends and issues that are impacting the provision of services this year. The following abbreviations will be used throughout the report: INMP BMD DMD FSHD HMSN UIHC MDA MDSTARnet SMA PT OT Iowa Neuromuscular Program Becker muscular dystrophy Duchenne muscular dystrophy Facioscapulohumeral dystrophy Hereditary motor and sensory neuropathy University of Iowa Hospital and Clinics Muscular Dystrophy Association Muscular Dystrophy Surveillance, Tracking and Research Network Spinal muscular atrophy Physical therapy Occupational therapy 3 Utilization of the services provided by the INMP varies depending on the complexity of the neuromuscular disorder and the patients’ and families’ community resources. Most of these services are not available outside the Neuromuscular Program. These services are detailed in the following list. Iowa Neuromuscular Program Services Diagnostic Evaluation • Detailed neuromuscular examinations • Review of family history and medical records • Diagnostic testing: biochemical, genetic, neuropathological Management of neuromuscular healthcare concerns • Medical management to slow progression of disease, control pain, treat symptoms • Physical therapy: Instruction for home programs, consultation with local therapists and orthotists • Recommendations for bracing, orthotics & equipment (wheelchairs, scooters, lifts) • Provide supporting documentation for therapy and durable medical equipment, as required by payers • Ongoing monitoring and management of pulmonary, cardiac and orthopedic manifestations of neuromuscular disorders; referrals to other specialists, as needed • Recommendations on management of ADL’s (transfers, mobility, home adaptations, vehicle modifications, etc) and assistance with identifying funding sources. Patient and Family Education • Written and verbal information specific to disease process, treatment & management • Genetic counseling for patient and families • Anticipatory guidance regarding prognosis and level of disability • Information about advance directives & living wills, as appropriate • Education of school personnel, employers, childcare providers and others involved • Updates on research topics for patients, families and healthcare providers Patient & Family Support Services • Phone triage and assistance with daily management of emotional, social and physical aspects of the disorder. • Advocacy in communicating with educators, employers, health insurers and more. • Referrals to the Muscular Dystrophy Association & other Regional & National disease specific organizations • Assistance in identifying social services & financial services • Referrals to home health care, respite and hospice services • Referrals to patient and family support groups • Access to research opportunities, as desired 4 Iowa Neuromuscular Program Utilization Number of Patient Visits Tables 1-4 demonstrate the number of patient visits in the INMP for the 13 consecutive years. This year’s numbers are slightly higher than last year. Over the past several years, the numbers of both new and return appointments have increased significantly. INMP clinical personnel are seeing the maximum number of patients possible to provide good healthcare. Since FY 1999, the total number of patient visits has increased by 60%. The total number of patient visits provided has doubled in 10 years with stable staffing and reduced funding. For the second year, we were able to request computer programming which would allow our program to generate a report about the number of patients seen, number of appointments, and insurance and payer status of patients and county of origin. The numbers presented in tables 1-4 are from manual tabulations with confirmation by the hospital database-generated calculations. From the report (Report2Web) generated by the University of Iowa Hospitals & Clinics billing office, the Neuromuscular Program provided 565 patient visits and 399 unduplicated patient visits. The number of times each patient is seen annually varies according to diagnosis and stage of illness. Individuals with rapidly progressive disorders are evaluated at least every 6 months, while individuals with more stable conditions are seen every 1-2 years. The INMP primarily provides services for children; however, adults with these disorders are evaluated and treated as requested due to a lack of specialty care or to maintain care for the entire family within one physician’s care, i.e. “Family Centered Care”. In addition, adults with neuromuscular conditions are referred to the INMP for specialized genetic counseling services. Adult referrals to the INMP have been high for this year as the Adult MDA Clinic at the University of Iowa Hospitals & Clinics was without a neuromuscular physician. Iowa Neuromuscular Program Clinics Number of Clinics The number of clinics held by the INMP is recorded in Tables 1-3. Clinics are generally held weekly at the University of Iowa Hospitals and Clinics, plus 13 outreach clinics. One Outreach clinic was cancelled (Waterloo in June 2008) due to flooding of the highways/interstates between Iowa City and Waterloo. The contractual agreement between the IDPH and the NM Program states that the NM Program must provide at least 25 clinics per year. This number has been met with 57 scheduled clinics last year. In addition, patients are frequently seen on non-scheduled clinic days to minimize inconvenience to families. For example, alternative days may be needed to coordinate with other clinic visits or to accommodate work and school schedules. Clinic Sites Because there are very few healthcare providers in the state with expertise in neuromuscular disease, distance from Iowa City constitutes a risk factor for access to care. To maximize the availability of specialized services, neuromuscular clinics are currently held in Davenport, Des Moines, Dubuque, Mason City, Sioux City, Waterloo, and Iowa City. Clinic sites have been determined by geographic location, population density and the assistance of CHSC Regional Offices. Clinic sites have reduced travel by as much as 6 hours for many patients in Northwest Iowa. With the closure of CHSC in Dubuque and low recent referrals, we will continue to consider eliminating Dubuque as a clinic site. The Davenport clinic site was opened in August 2005 due to high referrals and return patient from this area, along with the closure of the MDA clinic in the Quad Cities, leaving both pediatric and adult neuromuscular patients without specialized healthcare. Outreach clinics Since 2004, the University of Iowa Clinical Outreach Program has provided the infrastructure to the INMP field clinics (clinics away from Iowa City). This includes scheduling appointments, maintaining medical records electronically and contracting with clinic sties for space. The Clinical Outreach Program functions with financial restrictions and it is unclear at this point if this arrangement will work long term. The outreach clinics are highly valued by the patients served. An average of 18 patients is seen at each outreach clinic (the number scheduled ranges from 16-23 patients). One clinic was cancelled (Waterloo, June 2008) due to 5 flooding. Patients were contacted to triage their needs by phone and/or travel to UIHC once highway travel was available in the area. Neuromuscular healthcare is limited and/or compromised when there are more than approximately 20 patients per clinic in the outreach setting. Most of these patients have complex medical and psychosocial problems, and the time spent in clinic is only a small part of the process of meeting those needs. Typically, clinic begins at 8:00, which means the examiners leave to attend clinic between 6:00-7:00am. All patients are seen by Dr. Mathews and most are seen by Christina Trout, RN, a physical therapist and social worker. The time spent with each patient and type of services depends on the patient needs. Registration and obtaining vital signs, heights and weights is completed by an Outreach medical assistance (Provided by the Clinical Outreach Program). Outreach clinics are usually completed by 5:00-5:30pm, followed by an additional 1-2 hours to travel home. The following week: At least half of the patients seen in outreach clinics have some needs that cannot be addressed during the clinic. Examples: • Educational or resource materials need to be mailed. • Referrals to specialists are made (involves letters and phone calls) • Laboratory results reviewed, clinical decisions made, and families notified of these results and recommendations • Outside medical records are requested and reviewed • Additional diagnostic tests may be requested on muscle samples in storage • Letters about issues arising in clinic need to be composed and sent to schools, insurance companies, medical equipment vendors, DOT, etc • Arrangements are made for future follow up in the clinics for ongoing management Altogether, it takes 1-2 weeks to complete the short-term follow up that is needed for each outreach clinic. UIHC clinics Despite the convenience of the outreach clinics, the majority of the neuromuscular patients are seen in the UIHC clinics. There are a number of reasons for this: • For many patients, Iowa City is the closest clinic. • Patients or their family members have appointments with other specialists at University Hospitals & Clinics. • Patients may prefer to come to Iowa City, so that they can be seen on a date of their choosing rather than the date of the outreach clinic. • Similarly, they may prefer to drive to Iowa City so they can be seen sooner than the outreach is available. • A few patients enjoy the chance to visit Iowa City, or have friends or relatives in town. • Very complex patients can be given additional time or scheduled on a non-clinic day in Iowa City. On average, 7 patients are seen in each ½ -day clinic in Iowa City (~9% no show and late cancellation rate). The ½ day clinic typically begins at 8:30am and is completed at 1:30 pm, however if patients have additional needs, the day can be extended. The UIHC clinics also result in a series of tasks that need to be completed outside of clinic. Scheduling appointments: Outreach and UIHC The INMP does not have a mechanism to track the wait time for scheduling an appointment. All new referrals are triaged through the nursing or medical staff to assess the urgency of the referral. The urgency may depend on medical circumstances or anxiety the family has related to referral. If the referral is deemed an emergency, the patient is seen as quickly as the family and physician can reasonably meet, which is usually within a few days. If the consultation is not a medical or psychosocial emergency, appointments are arranged according to the clinic availability and the requested clinic site. With increasing numbers of patients, the wait time for appointments is longer. The clinics are currently overbooked in all sites which results in shortened appointments for patients and potentially, longer waiting times in clinic to see the physician. Return appointment availability is problematic. Patients who need appointments before their regularly scheduled follow up for “non-urgent” care are waiting 3 months or more for appointments. 6 Iowa Neuromuscular Program Personnel Nursing The INMP nursing personnel includes an Advanced Practice Nurse (Christina Trout, RN, MSN) and a part time staff nurse (Linda Boehmer, RN). The daily functions of nursing personnel can be categorized into categories. In the INMP, C. Trout’s time (at a minimum of 8 hours per day, Monday through Friday) is primarily spent in the category of skilled medical professional assessment and care coordination. These activities generally includes patient specific pre and post appointment activities, such as reviewing medical records for upcoming appointments, discussing treatment plans with third party payers, phone calls to follow-up with families, care planning follow-up, intra-agency care conferencing, assisting families to interpret health information, etc. The second highest category of activity is in skilled medical professional consultation/anticipatory guidance. This activity includes patient teaching, genetic counseling, consulting with health care providers for care management of a specific patient, attending team meetings to discuss specific patients, etc. On average, the primary INMP nurse spends 6 hours per day providing services in these 2 categories. Outside of these two categories, nursing time is spent in administrative duties to coordinate the activities of the patient care program, such as program planning, assisting healthcare providers in their communities or with another specialist within UIHC, participating in department meetings, maintaining competency (reading literature) in the practice arena, participating in research activities to benefit patient care, etc. The addition of a staff nurse (Linda Boehmer, RN) to the INMP has been invaluable. The staff nurse assists in nursing care one to two days per week. Activity tracking indicates that the staff nurse is providing virtually all her time in the skilled medical professional assessment and care coordination categories, as described above. This would include accepting new referral information and collecting pertinent family/patient information to facilitate medical evaluation. Another example is returning phone calls to patients/families to manage healthcare problems and arrange medical and nursing care. Both nurses spend time in scheduling efforts to coordinate appointments and triage patients into sooner appointments when needed. The INMP is working with scheduling for Outreach and the UI Pediatric Specialty Clinics to reduce nursing time spent in scheduling. The staff nurse also helps to collect and record data for the INMP reports, such as tallying the number of patients seen in clinic and the number of clinics held. The number of hours spent in different activities by each nurse is reflective of the varying roles in the INMP. Physician One physician, Katherine Mathews, MD, staffs the INMP. Dr. Mathews is the only Pediatric Neurologist in the State of Iowa with advanced training in genetics and neuromuscular disease. Dr. Mathews provides neuromuscular examinations, diagnostic services, specialized healthcare monitoring for complications specific to the disorder, ongoing education about the disorder and health management, communication with local providers, and much more. Appointments involve discussions about the benefits and limitations of treatment options. Hours are spent talking with families about difficult decisions such as respiratory ventilation, nutrition and hydration, pain control and psychosocial support in the later stages of disease. Detailed records of time spent caring for neuromuscular patients are not available. The NM Director/physician is funded by the State INMP appropriations at 25% of her salary. Dr. Mathews conservatively spends 92 hours/month (57% of a 40-hour work week) providing care to patients of the Iowa Neuromuscular Program. Many of the hours providing neuromuscular healthcare are non-reimbursable such as phone calls, counseling, and discussing management with consulting physicians. See budget description below. Physical therapy Physical therapy is an integral component of the care of neuromuscular patients. Local therapists rely heavily on the expertise of the INMP therapists who see these patients regularly. It is not cost-effective for a therapist to attend the clinics based on billing, however this service has thus far been provided by the Center for Development and Disability. There are three PTs who rotate throughout the NM clinics (Shelley Mockler, Kris Baldwin and Joy Krull). Social Services The socioeconomic impact of neuromuscular disease can be devastating to families. The UIHC was providing social service consultation (John Werner, MSW) on an as needed basis for UIHC and Outreach NM clinics. Mr. Werner was not able to attend Outreach clinics due to the large volume of inpatient and outpatient services for UIHC pediatrics. For the new fiscal year, social services will be provided through a combination of the UI Continuity 7 of Care Program (see below) and social work department. A designated social worker with many years of experience (Jim Porter, MSW) will attempt to see each patient seen in the NM clinic at least once per year. The primary role for social services in the NM clinics is to guide families to state, federal and community resources, such as Medicaid, Disability and local home health services. Often times, the social worker counsels families on how to apply for these services and makes referrals to community healthcare services, based on the recommendations of the NM team. Continuity of Care In addition to social services, the Continuity of Care nurse (Amy Leitch, RN) had been utilized over the past year to provide additional case management and follow up. The COC nurse is not funded by the NM Program. The COC program is utilized when a patient has multidisciplinary, complex medical and social issues that become time and labor intensive to the NM program resources. For example, a patient with spinal muscular atrophy who is hospitalized several times per year, needs daily nursing care when discharged, sees 4-5 outpatient services throughout the year and requires coordination of financial resources (private insurance, Medicaid, waivers) is likely to benefit from more intensive care coordination. While the NM Program nurses and social workers are able to direct patients to resources and assist in initiating services, it has become increasingly difficult to provide intensive follow up for patients with extensive financial and social needs. As of August 2008, the COC Program and Social Work Department will provide a social worker (Jim Porter) to all UI and Outreach NM clinics to continue social service recommendations and assist in coordination of care. Other Neuromuscular Program personnel The INMP cannot function without many ancillary personnel. Examples include secretaries who assist in triaging patient and provider phone calls and maintain patient files/records; transcriptionists; schedulers; billing personnel and program administrators. These personnel are not financially supported by the INMP, but are paid through other University of Iowa or UI Healthcare budgets. Iowa Neuromuscular Program: Budget The INMP contractual FY 2007 budget was submitted to the Iowa Department of Public Health by the University of Iowa Department of Pediatrics. The FY07 INMP appropriation ($97,799) funded 25% of the physician salary, 69% of the primary INMP nurse and the hourly wages of the staff nurse. The program has received decreasing or flat funding over the past 8 years, in the face of rising costs. The billing summary for fiscal year 2007-08 is complicated. The Department of Pediatrics altered its operation of outreach clinics in September 2004, with the closure of CHSC clinics. Clinical Outreach provided the infrastructure for the NM Outreach clinics during this time of transition. The Department of Pediatrics assumed the management of the NM Outreach clinics in January 2008. The professional fees are now billed and collected through the Department of Pediatrics. The full cost of the clinics is carried by the Department of Pediatrics, i.e., staff, transcription, medical record management, scheduling and contractual agreements with the local sites. Thus in the FY07-08, we had activity in both the UIHC Outreach system and through the Department of Pediatrics. In past years, the INMP has shown that Dr. Mathews bills about $30,000 during a fiscal year for patient care services in the Outreach Clinics. Approximately $13,500 is received as in payments (insurance, Medicaid, MDA, patient payments). We do not have information about the billable component of the UIHC clinics, since Dr. Mathews bills for both Neuromuscular and General Neurology and the billing system does not allow us to determine what portion of her revenues comes from NM vs. General Neurology bills. In the past, Dr. Mathews billed about $48, 800 for patient appointments at the Iowa City Neuromuscular clinic site. A hospital-wide collection rate for reimbursement is 34.9%, with Medicaid paying 19-26%. Roughly 50% of the INMP patient population has Medicaid. Based on these figures, the INMP would expect to collect about $13,190 annually. In past years, Clinical Outreach reimbursed the Neuromuscular Program approximately $15,086 for the hourly wages of staff in the Outreach setting. Thus, the total estimated patient-care generated income for the INMP is estimated to be $28, 276 per year. This is clearly insufficient to finance the services provided without state subsidy. The actual expenses include the personnel costs discussed in the previous section (the major expense), clinic letters, mailing/postage, billing, supplies/computers/printers, and travel to outreach clinics, overhead for maintenance of buildings and facilities, and other costs associated with maintaining a healthcare program. Based on the financial statements for the Child 8 Neurology Division, it is estimated that the Neuromuscular Program (even with state funding) operates at a deficit of approximately $35,000 each year. Iowa Neuromuscular Program: Needs Assessment and Research Identification of populations at risk assumes the ability to adequately and accurately assess the population. Due to lack of funding and limited personnel, there has not been a statewide database for patients with neuromuscular disease. Currently, an Excel spreadsheet is maintained by the secretarial staff for the INMP which allows us to keep track of the patients seen, including their age, county of origin, diagnosis and type of insurance listed as a payer. This is a manual process of collecting specific information and entering it into the spreadsheet. Families have reported that they’re not comfortable completing intake forms about their financial and educational backgrounds. Most families leave these intake forms incomplete. Furthermore, this spreadsheet obviously only includes patients currently being seen by the INMP, and does not allow identification of patients who are outside of the system. Therefore, the actual number of individuals who need neuromuscular services in the State of Iowa cannot be fully assessed. We expect that the statewide registry being developed with support from the Centers for Disease Control (CDC) (MDSTARnet, described below) will allow us to identify patterns that limit or enhance access to specialized medical care for families with Duchenne and childhood onset Becker muscular dystrophy. Information from these studies will apply to many of the patient populations served by the INMP. The State of Iowa is receiving national recognition from the National Institutes of Health and the Centers for Disease Control for its population-based approach to neuromuscular disease. Funding to the University of Iowa and researchers working with the Iowa Neuromuscular Program for these projects has been granted based on the ability to provide state-wide assessment and based on the clinical expertise of the Iowa Neuromuscular Program personnel. Dr. Mathews and Ms. Trout were invited to participate on an expert panel to help develop national comprehensive care considerations for individuals who have DBMD. These considerations will be developed by professionals from academic institutions and expert clinicians with facilitation of a team from Center for Disease Control. Expert clinicians were selected based on both their relevant clinical and research experience as well as recommendations from acknowledged leaders in the field. Research: The following are examples of research activities which add to the body of knowledge in caring for individuals affected by neuromuscular conditions and provide access to research opportunities for our many families. Funding for these projects are directed at completing the activities of the project and do not support the Iowa NM Program functioning. That is, research funding does not provide financial support to provision of patient care activities. Muscular Dystrophy Surveillance, Tracking and Research Network: MDSTARnet The Center for Disease Control (CDC) has initiated a national project, entitled MDSTARnet, to assess the epidemiology and clinical course of childhood onset Duchenne and Becker muscular dystrophy. This will include surveillance, tracking, and voluntary surveys and interviews to generate information about prevalence, longevity, medical complications and interventions and other public health aspects of these patients. Iowa applied for and was selected as one of five states for this collaborative project. The work in Iowa is conducted under the administration of the Congenital and Inherited Disorders Registry in collaboration with the Iowa Department of Public Health and Colleges of Medicine and Public Health. The objectives of MDSTARnet do not overlap with those of the INMP, but the information generated through Iowa’s participation in this project will be valuable to the state determining epidemiology and impact of neuromuscular healthcare services. MDSTARnet Needs Assessment As a supplement to the surveillance activity conducted through MDSTARnet, the University of Iowa Colleges of Medicine and Public Health have a contract through the CDC to conduct a statewide Needs Assessment with D/BMD patients and their families. The purpose is to identify areas of medical and psychosocial need, resources that families utilize and the over all impact of D/BMD on the individual, family and community. This work is still in development, however, it is expected that this information derived from this project will be valuable in identifying unmet needs of Iowans with neuromuscular diseases. United Dystrophinopathy Study This is an ongoing study to compare specific dystrophin mutations (gene changes) with clinical signs and symptoms of DBMD. Iowa is one of six neuromuscular centers taking part in this project which started at the 9 University of Utah. Participation involves a blood sample from the affected person and yearly detailed muscle testing done by a trained physical therapist. Study activities can often be completed in conjunction with routine clinic appointments at the University of Iowa. There is no cost to families to participate in this study. This study allows our Iowa DBMD families the opportunity for access to genetic research that may better define their family’s genetic change and/or be recruited into future clinical trials based on this information. Clinical Outcome Measures in Friedreich’s Ataxia The purpose of this study is to identify ways to follow the disease progression in Friedreich’s Ataxia and be able to measure changes over a short period of time. Researchers anticipate that this study will result in a reliable measurement tool, which could be used in future drug treatment research studies. The study is coordinated by Children’s Hospital of Philadelphia and is being conducted at multiple sites across the United States. For our patient, the study involves a yearly physical examination by a neuromuscular doctor (Dr. Mathews) and an exam by a physical therapist specially trained in the assessment. As part of the study, participants undergo a vision test, measurements of arm function and coordination, and health questionnaires. Clinical Features of Early-Onset Fascioscapulohumeral Muscular Dystrophy (FSHD) This study was conducted by the University of Iowa with funding from the FSHD Society, a private not-for-profit organization. The purpose of this study was to examine and describe the clinical presentation of persons with early onset (infantile) FSHD. Of particular interest are the health care needs and experiences of people with this disease. Eligible participants fall into at least one of the following groups: 1) clinically defined severe FSHD. This group is defined as patients who report needing a wheelchair greater than 50% of the time by age 18 years; or 2) molecularly defined patients who are predicted to have severe FSHD. This group is defined as patients with EcoRI fragments smaller than 15 kb found by genetic testing. Participation in this study involved completion of a mailed survey. Survey questions asked about symptoms, physical abilities and limitations, and medical history. Knowledge gained from this study will improve the health care recommendations for persons with FSHD, and provide a framework for further study into potential new treatment modalities. A Clinical Evaluation of FKRP Muscular Dystrophy This project is funded through the National Institutes of Health as part of the University of Iowa Wellstone Muscular Dystrophy Cooperative Research Center. In this project, researchers examine the clinical presentation of muscular dystrophy caused by changes in the fukutin-related protein (FKRP) gene. FKRP mutations are responsible for limbgirdle muscular dystrophy type 2I (LGMD 2I) and congenital muscular dystrophy type 1C (MDC1C). The purpose of the study is to describe the early signs and symptoms of FKRP-related muscular dystrophy, and to determine the reasons for differences in disease severity. Knowledge gained from this study will improve the health care recommendations for people with FKRP mutations, and provide a baseline for further study, including potential treatment options. The study has two phases. Subjects may participate in both phases, or in one of the two. The first phase of the study is a brief survey. The survey asks about symptoms, test results, and medical history. The second phase of the study involves a clinical evaluation at the University of Iowa. The evaluation includes muscle strength and motor ability testing, heart and lung function testing, and a review of past medical history. Portions of this evaluation will be repeated on a yearly basis. Iowa Neuromuscular Program: Educational Activities There has been an exponential increase in the understanding of neuromuscular disease with limited dissemination of knowledge to the general public and healthcare providers. Utilization of this scientific information is even more limited. The INMP personnel are regularly involved in teaching activities at local, state and national levels, in addition to the education provided to individuals and families in clinics. Formal and informal educational activities are described below. Clinic based teaching The INMP is based at the University of Iowa. As a result, healthcare trainees attend every clinic. Trainees rd th attending the clinic include 3 and 4 year medical students; residents in pediatrics, adult neurology, and psychiatry; genetic counseling students; advanced practice nursing students; and physical therapy students. This clinic-based teaching is a very effective way to show individual students the scope of medical care that patients with NM diseases may require. 10 Formal educational lectures K. Mathews and C. Trout give a number of lectures about neuromuscular diseases each year in Iowa and nationally. Lectures are provided by request to MDA and other patient organizations, the Area Education Agencies, teachers, therapists, school nurses, and others involved with students to plan for educational programming, as well as building accessibility. There are many opportunities to provide education to healthcare students. NM Clinic personnel provide lectures through the College of Medicine to first year medical students in genetics courses. Similar lectures are provided to nursing and physical therapy students through the College of Nursing and Physical Therapy. Dr. Mathews is also a small group leader for the medical ethics course taught to second year medical students. Educational needs of the patient and family An essential component of each neuromuscular appointment includes education about the individual’s medical diagnosis, related complications and potential interventions. This includes information about genetic diagnosis and inheritance. Knowledge is power for families who are making critical healthcare decisions throughout their lifespan. Clinical healthcare in the INMP is constantly being updated based on advances in science. The ability to remain on the cutting edge of technology and information is part of what separates the INMP from general healthcare. These advances significantly impact the ability to establish a diagnosis quickly and accurately, evaluate ongoing medical concerns with the interventions that make the greatest impact and provide genetic counseling for future generations. Although not listed on the surveys as an aspect of clinical healthcare, the neuromuscular patients are uniformly interested in research updates and opportunities. These diseases are debilitating and untreatable. Patients’ and families’ hopes rest on research advances. We have recently facilitated patient participation in studies of cardiac function in various forms of muscular dystrophy, studies delineating forms of limb-girdle muscular dystrophy, studies of fascioscapulohumeral dystrophy, biochemical and genetics studies of congenital muscular dystrophy, psychological aspects of respiratory illness in males with DMD, and expect to begin offering participation in therapeutic trials for LGMD and DMD. Written materials Written material is extremely helpful to supplement the verbal teaching of patients and phone consultations from the community. The INMP has developed a collection of teaching materials that are handed out as appropriate. Some of these materials come from the MDA, PPMD, Families of SMA, FSHD Society, etc, and still others have been developed specifically for the INMP clinics. This has become increasingly difficult, as the INMP does not have a budget to pay for patient education materials. Televised interviews The clinic personnel are interviewed annually as part of the MDA Telethon activities regarding the impact of neuromuscular disorders on Iowa communities, current diagnostics and treatment and the future of research. The interviews are aired on local news channels as health updates. Educational Needs of the INMP Personnel As the neuromuscular personnel represent a unique educational resource for the state, INMP staff education is very important. The personnel must be able to attend professional meetings and continuing education conferences to stay current on issues. Knowledge is gained and experiences shared with other experts in neuromuscular healthcare that increases the ability to care for Iowans. National meetings of this caliber are most often held out of state. This is an expense that is currently covered by the University of Iowa, Department of Pediatrics, or as out-ofpocket expenses for INMP personnel. Acknowledgements We would like to thank Karen Boatman, Brittany Dichraff and Jessica Nelson in the Division of Child Neurology for their time and expertise in collecting and maintaining the neuromuscular database. This information is used to report our patient numbers and clinics each year. Their efforts and talents are greatly appreciated! 11 Table 1. Patient Visits to UIHC* Neuromuscular Clinics, 12 Year Data /06 /07 07 /06 -06 /08 07 /07 -06 /97 /99 /96 /98 /00 /01 /02 /03 /04 /05 Fiscal Year Clinics New visits Return visits Total visits 50 32 182 216 43 59 176 241 45 63 184 251 40 56 175 234 40 72 167 239 44 54 183 237 40 75 192 267 41 78 210 288 48 63 279 342 55 71 267 344 07 /05 -06 7/0 3-6 7/0 4-6 49 93 252 356 51 80 251 331 *UIHC clinics are held weekly at the University of Iowa Hospitals and Clinics in Iowa City. Table 2. Patient Visits to Neuromuscular Outreach Clinics, 12 Year Data 07 /05 -06 /06 07 /06 -06 /07 07 /07 -06 /08 -6/ 99 -6/ 96 -6/ 97 -6/ 98 -6/ 00 -6/ 01 -6/ 02 -6/ 03 -6/ 04 7/9 7 7/9 5 7/9 8 7/9 9 7/9 6 7/0 0 7/0 1 7/0 2 7/0 3 Fiscal Year Clinics New visits Return visits Total 7 10 53 63 8 19 83 104 8 31 91 123 8 34 83 117 13 35 112 147 11 36 126 162 10 34 138 172 12 35 183 218 11 40 157 197 7/0 4 12 28 153 181 -6/ 05 13 34 190 225 13 23 187 210 Outreach clinics are held at Des Moines Pediatric and Adolescents Clinic, St. Luke’s Regional Medical Center in Sioux City, People’s Clinic in Waterloo, and North Iowa Mercy Health Center, West Campus in Mason City. Table 3. Total Neuromuscular Program Patient Visits, UIHC and Outreach; 12 Year Data /07 07 /06 -06 /08 6 7 9 8 0 1 2 3 4 5-6 /9 6-6 /9 0-6 /0 8-6 /9 7-6 /9 9-6 /0 1-6 /0 2-6 /0 5 3-6 /0 7/9 7/9 7/9 7/9 7/9 7/0 7/0 7/0 4-6 /0 Fiscal Year Clinics New visits Return visits Total 57 42 235 279 51 78 259 345 53 94 275 377 48 90 258 351 53 107 279 386 55 90 309 399 50 109 330 439 53 113 393 506 59 103 436 539 7/0 67 99 420 525 7/0 7/0 62 127 442 581 5-6 /0 6 64 103 438 541 07 /07 -06 7/9 7-6 7/9 8-6 7/9 5-6 7/9 6-6 7/9 9-6 7/0 0-6 7/0 1-6 7/0 2-6 45 81 268 349 12 28 188 216 57 109 456 565 Table 4. Total Neuromuscular Program Visits, UIHC and Outreach, New & Return New and Return Patient Visits 500 450 400 350 300 250 200 150 100 50 0 New visits Return visits 7/ 95 -6 7/ /96 96 -6 7/ /97 97 -6 7/ /98 98 -6 7/ /99 99 -6 7/ /00 00 -6 7/ /01 01 -6 7/ /02 02 -6 7/ /03 03 -6 7/ /04 04 -6 7/ /05 05 07 - 6/ 0 /0 6- 6 07 06/ 0 /0 7- 7 06 /0 8 13 INMSP Annual Case Management Report July 2007 to July 2008 Table of Contents Congenital Hypothyroidism - Borderline Cystic Fibrosis Rejected Screens Early Collection Transfusions Metabolic Hemoglobinopathy Education Attendance and Presentations Page 2 6 8 9 10 11 14 18 1 Congenital Hypothyroidism Borderline Value Report July 2007- July 2008 Month Values and Number of Reported Cases - Initial Screen20.0-29.9 20 12 9 13 12 7 17 15 9 13 30.0-39.9 11 9 4 9 2 2 3 6 4 6 40.0-.49.9 1 1 2 1 1 0 3 0 0 0 50.0-59.9 1 0 0 1 0 0 0 2 1 0 Mo. Case Totals 33 22 15 24 15 9 23 23 14 19 AMA * LTFU * July-2007 August September October November December January February March April May June -2008 Value Totals 0 0 0 2 1 0 0 0 0 0 1 0 0 1 0 1 0 0 0 0 Monthly Narrative Regarding Congenital Hypothyroidism – Borderline Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases Month July-2007 2007078253-Letter undeliverable LTFU August None September 2007104287-Deceased October 2007102102-AMA-Cert Letter sent to verify PCP 2007103148-AMA-Family refused to repeat NBS per PCP 2007078253-LTFU-Cert Letter undeliverable November 2007112816-AMA-Cert Letter sent to mother-mother did sign. December 2007108503-LTFU-Cert Letter undeliverable January None February None March None April None May June -2008 2 Borderline Congenital Hypothyroidism Cases -Diagnosed Positive UHL Number Age Screened 2007090999 2008001611 January 08 2008006826 2008003434 2008001611 2 days 4 days 53.8 15 days 2 days 1 day Age to lab 2days 1 day Initial Value 34.0 33.7 Age Confirmed 15days 32 days Treatment Medication started by PCP Synthroid 37.5mcg started by PCP Synthroid 25mcg/QD Synthroid 25mcg/QD Medication started 3 Congenital Adrenal Hyperplasia Borderline Value Report December 2007- July 2008 Month Weights Values Weights/Values and Number of Reported Cases - Initial Screen<1250 >1250>1750>2250 <1750 <2250 >200>170>150>80<250 <190 <170 <120 1 0 0 0 0 0 0 0 0 0 1 1 1 1 0 10 18 17 15 14 Mo. Case Totals LTFU* AMA * December 17 January February March April May June -2008 Value Totals 12 19 18 16 14 0 0 0 0 0 2 0 0 0 0 Monthly Narrative Regarding CAH– Borderline Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases Month December 2007128863-AMA signed 01/22/2008 2007127540-AMA signed 01/25/2007 January 2008002306-1st screen borderline CAH-repeat screen PP CAH. Followed by UIHC Peds Endo February None March None April None May June -2008 Borderline CAH Cases -Diagnosed Positive 4 UHL Number Age Screened Age to lab Initial Value Age Confirmed Treatment CYSTIC FIBROSIS July 2007- July 2008 5 Month TotalIdentified Cases (TI) Definite/ Possible Result AMA/ LTFU* Sweat Tests/ Counseling at Accredited CF Centers Total Cases – Diagnosed CF Disease (TC) Percentage CasesCF Disease (TC/TI) July-2007 9 August 12 September 2 October 5 November 10 December 12 January February March April May June-2008 Yearly Total 6 14 5 7 0/12 0/2 0/5 2/8 2/10 0/6 0/14 1/1 0/7 0 0 0 1 18 6 10 3 0 0 2 0 0% 0% 100% 0% 10 0 0 7/1 8/4 3 1 See below 20% Monthly Narrative Regarding Cystic Fibrosis Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases Month July-2007 August September October Cert. letter sent to mother-VNA sent to home November December January February March April One equivocal awaiting further testing May June -2008 CYSTIC FIBROSIS CONFIRMED CASES 6 UHL Number 2007076497 Equivocal 2007085553 Equivocal 2007090581 Atypical CF 2007096975 CF 2007105384 CF 2007112750 CF 2007118542 CF 2007125771 CF 2007128154 CF 2007128915 CF 2007132090 CF 2008000335 CF 2008000334 CF variant Age Screened 2 days 1 day 2 days 1 day 1 day 1 day 3 days 1 day 1 day 1 day 1 day 1 day 1 day Age to lab 2 days 2 days 2 days 2 days 2 days 3 days 3 days 2 days 1 day 4 days 2 days 2 days 2 days Mutation Δ F508/ R117H 5T9T Δ F508/ 5T9T Δ F508 Δ F508 G542X/ 5T9T Δ F508/ R117H no5T Δ F508/ Δ F508 Δ F508/ R117H 5T9T Δ F508/ Δ F508 Δ F508/ R553X Δ F508 Δ F508/ R117H no5T R117H/ 5T7T Age Confirmed 19 days 27 days 23 days 19 days 50 days 21 days 12 days 20 days 12 days 19 days 22 days 29 days 29 days Treatment UIHC-CFC UIHC-CFC DSM-CFC DSM-CFC UIHC-CFC Sioux FallsCFC DSM-CFC UIHC-CFC DSM-CFC UIHC-CFC UIHC-CFC UIHC-CFC UIHC-CFC Cystic Fibrosis Parent Screening 7 Month Total Parent Screens 1 0 5 2 0 0 3 3 2 3 INMSP Genetic Counselor Services 0 0 1 0 0 1 2 3 1 4 Comments July -2007 August September October November December January February March April May June Yearly Total REJECTED SCREEN WITHOUT REPEAT REPORT Fiscal Year 2007-2008 Reject Screens Total Cases Identified Pending Cases Repeat Screen Cases Lost to Follow-up* Cases Lost AMA* Jul 10 4 5 0 1 Aug 19 7 10 0 2 Sept 15 6 8 Oct 23 8 Nov 32 10 Dec 23 6 Jan 42 10 32 Feb 47 18 29 Mar 51 10 Apr 38 11 27 May Jun 25 0 1 0 3 32 1 2 22 0 0 1 0 0 0 41 0 0 0 0 Monthly Narrative Regarding Rejected Screen Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases Month 8 July-2007 August September October November December January February March April May June -2008 #2007100089- Certified letter sent. Closed AMA 2007083262-AMA-Cert Letter 2007086438-AMA-Incorrect PCP-Cert Letter 2007099161-AMA-Incorrect PCP-Cert Letter 2007114312-AMA-Cert Letter-signed ARNP-NO REPEAT SCREEN DONE 2007117566-AMA-Cert Letter- ARNP-NO REPEAT SCREEN DONE 2007088088-Lost to Follow up-Unable to Forward Letter-NO REPEAT SCREEN DONE 2007124889-Closed as other d/t adoption out of state. NO REPEAT SCREEN DONE 2007129164-AMA-Cert Letter-signed (father)-NO REPEAT SCREEN DONE EARLY COLLECTION CASE REPORT Fiscal Year 2007-2008 Early Collection True Early Collections Cases Lost to Follow-up* Cases Lost AMA* Pending Cases Total Cases Identified Jul 6 0 0 6 25 Aug 6 0 0 4 24 Sept 8 0 0 9 30 Oct 2 0 0 0 30 Nov 2 0 0 1 24 Dec 5 0 0 6 28 Jan 1 0 0 4 23 Feb 3 0 0 5 23 Mar 11 0 0 4 35 Apr 2 0 0 1 28 May Jun Monthly Narrative Regarding Early Collection Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases 9 Month July-2007 August September October November December January February March April May June -2008 2007125034-Letter returned undeliverable None None None TRANSFUSION CASE REPORT Fiscal Year 2007-2008 Transfusion Jul Transfusion Cases Transfusion Unknown Cases Total Cases Identified Cases Lost to Follow-up* Cases Lost AMA* Pending Cases 32 34 66 0 Aug 19 41 60 0 Sept 16 28 44 0 Oct 23 35 58 0 Nov 20 42 62 0 Dec 21 30 51 0 Jan 20 26 46 0 Feb 20 22 42 0 Mar 20 30 52 0 Apr 4 59 63 0 May Jun 0 18 0 10 0 13 0 7 0 12 0 18 0 6 0 0 6 0 11 Monthly Narrative Regarding Transfusion Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases Month 10 July-2007 August September October November December January February March April May June -2008 Metabolic Screening PRESUMPTIVE POSTIVE CASES Annual Report July 2007 – July 2008 Biotinidase Month Galactosemia Amino Acids Acylcarnitines Mixed Amino Acids & Acylcarnitines Total AMA * LTFU * NICU -TPN July -2007 August September October November December January February March April May June -2008 Totals 1 0 2 1 2 1 1 0 0 1 2 1 1 0 1 0 1 0 1 0 11 5 9 12 5 11 5 3 6 8 10 4 7 9 12 11 7 4 6 2 0 0 1 0 1 0 0 0 1 0 24 10 20 22 18 23 14 7 14 10 1 1 6 3 8 10 6 6 5 1 7 7 Monthly Narrative Regarding Metabolic Cases * Narrative regarding all Lost to Follow-up and Against Medical Advice Cases 11 Month July-2007 August September October November December January February March April May June -2008 Deceased babies x 2 Mth dx with CUD Closed Feb ‘07 case as AMA-certif. letter sent Closed July ‘07 case as AMA-certif. letter sent (recommended f/u was then done) 2007-2008 Confirmed Presumptive Positive Cases 20072008 Total Mixed Amino Biotinidase Galactosemia Amino Acylcarnitines Acids/Acylcarnitines Acids Diagnosis and UHL Number Diagnosis Abbreviation Classification Of Disorder Age Scree ned Repeat screen Age to lab Age TX Began Age Confirmed Treatment 2007075165 Duarte Galactosemia 2007083572 Methylmalonic Acidemia 2007085048 Duarte Galactosemia 2007095772 Phenylketonuria 2007104184 Medium Chain Acyl-CoA Dehydrogenase DG MMA (Cob C Def) DG PKU GALT Organic Aciduria GALT Amino Acid Fatty Acid Oxidation 7 2 4 2 8 4 7 7 21 9 38 29 diet Hospitalized at 4 days diet diet 4 1 3 1 MCADD 2 2 3 33 diet 12 Deficiency 2007080131 Medium Chain Acyl-CoA Dehydrogenase Deficiency 2007101367 Very Long Chain AcylCoA Dehydrogenase Deficiency 2007113779 Very Long Chain AcylCoA Dehydrogenase Deficiency 2007105790 Duarte Galactosemia 2007122875 Duarte Galactosemia 2007120006 Partial Biotinidase Deficiency 2007127108 Medium Chain Acyl-CoA Dehydrogenase Deficiency 2007133591 Partial Biotinidase Deficiency 2008003497 Profound Biotinidase Deficiency 2008005437 Duarte Galactosemia 2008002313 Short Chain Fatty Acid Oxidation 123 daysafter skin bx results MCADD 1 1 2 diet VLCADD carrier Fatty Acid Oxidation 1 2 3 83 diet VLCADD carrier Fatty Acid Oxidation 1 2 3 54 diet DG DG Partial BT GALT GALT Biotinidase 2 3 2 3 4 2 4 5 30 43 31 28 diet diet Biotin MCADD Fatty Acid Oxidation Biotinidase 1 4 5 62 diet Partial BT 1 3 27 32 Biotin Profound BT DG Biotinidase 2 3 7 20 Biotin GALT 1 2 3 12 diet 13 Acyl-CoA Dehydrogenase Deficiency 2008008188 Phenylketonuria 2008009292 Isovaleric Acidemia 2008016010 Medium Chain Acyl-CoA Dehydrogenase Deficiency SCADD PKU IVA Fatty Acid Oxidation Amino Acid Organic Aciduria 2 2 3 3 2 3 4 5 7 18 diet diet 16 diet MCADD Fatty Acid Oxidation 1 2 3 9 diet Hemoglobinopathy Annual Report July 2007 – July 2008 Hemoglobinopathy Trait Cases Identified Trait Jul FA + Bart’s ACB: Trait + Bart’s AEB: Trait + Bart’s ASB: Trait + Bart’s AC Trait AD Trait AE Trait AG Trait AS Trait AV Trait A>F Trait Monthly Total 9 0 0 0 7 0 6 0 16 2 0 39 Aug 10 0 0 0 9 0 5 0 23 8 0 54 Sep 9 0 1 0 5 0 10 0 20 9 0 54 Initial Screen Oct 9 0 0 0 5 3 2 0 16 6 0 41 Nov 7 1 0 0 5 0 1 0 12 6 0 32 Dec 9 0 0 0 4 1 5 0 15 5 0 40 Jan 10 1 0 0 1 1 2 0 24 5 0 44 Feb 7 0 0 0 6 0 3 0 18 4 1 39 Mar 6 0 0 0 1 0 8 0 18 6 0 39 Apr 6 0 0 0 3 1 4 0 20 8 0 43 May Jun *This is tracked by date of birth Monthly Narrative Regarding Hemoglobinopathy-Trait Cases 14 * Narrative regarding all unusual cases Month July-2007 August September October November December January February March April May June -2008 #2007085846-IA initial screen was actually a repeat for a screen drawn in IL. #200708795,#2007081214-AS Trait #2007127506-baby was born in NE and they will do follow up N/A #2007125532-baby is deceased AV trait #2007132233-FF (fetal hemoglobin only) on initial screen, repeat was normal which means the initial result was due to prematurity. N/A #2008020517-IA screen is a repeat for an initial Illinois case. #2008025882-IA screen is a repeat for an initial South Dakota case. Number and Type of Cases Managed by Genetic Counselor Month Number & Type of Cases July-2007 August September 1 AS trait; 1 AC trait October 1 AC trait; 1 Bart’s November 1 AE trait; 1AD trait In clinic: 1 CC disease; 3 SS disease (one new diagnosis) December 1 AC trait January 2 AS trait; 2 AV trait; 3 Bart’s February 2 AS trait; 1 AV trait March 2 AS trait; 1 Bart’s; 1 AC trait; 1 AE trait April 7 AS trait; 2 Bart’s; 2 AC trait; 1 AE trait May June 2008 Total *This is tracked by service date ** The genetic counselor attended 2 outreach hemoglobinopathy clinics in November. (Davenport & Waterloo) Total 2 2 2 4 1 7 3 5 12 Hemoglobinopathy – Disease Cases 15 Diagnosis 2007069084 Sickle Cell Anemia 2007113363 Sickle Cell Anemia 2007116041 S/Beta Thal 2007117655 Sickle Cell Anemia 2007101014 Hgb VV Disease 2008001823 – Hgb EE Disease 2008017395 – S/Beta Thal 2008020323 – Hgb VV Disease Age Screened 1 day 1 day 1 day 1 day 1 day 1 day 2 days 2 days Age Lab Received 2 days 2 days 3 days 2 days 2 days 1 day 3 days 4 days Age Confirmed 17 days Diagnosed prenatally pending 16 days 19 days 19 days Age treatment started Type of treatment N/A No treatment recommended since EE disease is benign. No treatment since this is two fetal variants in an infant with both Fetal and Adult hemoglobin present. 31 days N/A Monthly Narrative Regarding Hemoglobinopathy-Disease Cases Month July-2007 August September October November December January February March April May June -2008 CHORI testing detected no beta thalassemia mutations on Hgb EE disease case (2008001823). Hemoglobinopathy Six Week Follow-up Calls 16 Jul Total Number of Calls # Repeat Screen # Electrophoresis Cases AMA* Cases LTFU* Aug Sep 34 7 1 3 Oct 30 12 Nov 24 6 1 3 Dec 8 4 Jan 15 5 1 Feb 19 5 Mar 12 1 Apr 2 May Jun 2 0 1 ** Tracked by Month of Service * Narrative regarding Cases Lost to Follow-up or Against Medical Advice Month July-2007 August September October November December January February March April May June -2008 #2007081214,#2007060060,#2007071576-unable to locate families #2007093729,#2007087955, unable to contact parents #2007118489-Adoption,#2007100885-moved to Mexico,#2007108900-Adoption #2007132635-cert. letter sent to parent, no repeat done #2008002649-cert. letter sent, no green card back 2007-2008 Education Attendance and Presentations 17 DATE July 2007 August 2007 • September 2007 • October 2007 • • • • November 2007 December 2007 January 2008 EVENT ATTENDEE Heartland Regional Conference, Oklahoma City North American CF Conference CF Management Educ. to medical students CF Educ. to pharmacist and nurse from Czech Republic NSGC Conference ,Kansas City, MO NICU orientation at UIHC, Iowa City, IA Sara Copeland, Arlena Pugliese Beth Dowd Jenny Marcy Pam DeBoer, Tammy Hatland TMS Training @ Duke February 20008 March 2008 April 2008 May 2008 June 2008 Genetics Division Journal Clubpresented Training at UHL in Ankeny Heartland 2008 NBS Workshop – Jefferson City, Missouri Genetics Division Journal Clubpresented Kim Turner Jenny Marcy Kim Turner Kim Turner Jenny Marcy Hemoglobinopathy Education 18 July 29-August 3, 2007 – Sickle Cell Camp November 11, 2007- Dr Loew and Myrl Holida, PA, provided education to patients and families at the Waterloo Outreach Clinic. November 29, 2007- Dr Loew and Myrl Holida, PA, provided education to patients and families at the Davenport Outreach Clinic. 19 REGIONAL GENETIC CONSULTATION SERVICE ANNUAL REPORT FY 2008 In collaboration with the Iowa Department of Public Health and the Department of Pediatrics, Division of Medical Genetics University of Iowa Hospitals & Clinics Page 2 Regional Genetic Consultation Service Annual Report FY 2008 This document will report on the activities of the Regional Genetic Consultation Service (RGCS) and the individuals served by this program for fiscal year 2008. Areas of success, areas of concern, new initiatives, changes in program activities, and areas for future attention will be highlighted. Program Activities Clinical Clinical aspects of the RGCS program revolve around the activities necessary to provide genetic consultation, evaluation, and counseling to patients and their families. Following is a brief description of some of the current clinical activities and changes that have occurred in FY 2008. A more complete detailed review of clinical activities can be found in the June 2004 Needs Assessment. The number of RGCS clinics held FY 2008 and the previous 4 years, the number of patient visits scheduled and completed during each year including numbers of new and follow-up patients seen, and the number of families served during this time are displayed in Table 1. The total number of CLINIC ACTIVITY REGIONAL GENETIC CONSULTATION SERVICE FY 2004-2008 Table 1 CLINIC ACTIVITY Total # Clinics Held Patients Processed and Scheduled Total Number Evaluated New Patients Follow-Up Patients No Shows Individuals Present for Counseling Sessions Families Served FY 2004 79 922 757 469 289 94 (10.2%) 1874 691 FY 2005 77~ 896 701 471 230 77 (8.6%) 1827 643 FY 2006 85# 953 797 493 304 66 (6.9%) 2003 727 FY 2007 81* 920 815 515 300 46 (5%) 2070 744 FY 2008 79^ 916 825 463 362 51 (5.6%) 2016 737 ~Three clinics cancelled, 2 due to snow and one due to physician illness- 2 rescheduled. New ½ day Cedar Rapids clinic started. # Three clinics cancelled, 2 due to snow and one due to family emergency, 2 of the 3 clinics rescheduled. Three clinics adversely affected by snow storms. * Two clinics cancelled, 1 due to illness and 1 due to snow-both rescheduled. Another clinic shortened due to physician illnesspatients rescheduled into other clinics. RGCS counselor began staffing regional metabolic clinics in May. ^2 clinics cancelled, 1 due to illness and 1 due to flood- neither rescheduled in FY 08; Two clinics adversely affected by illness and weather. Page 3 clinics and the number of patients scheduled and seen has remained almost the same in FY 2008 even with the continued reduction in the number of Geneticists available to staff the clinics. This was made possible by the outstanding efforts of the physicians and nurse/counselors this past year. In FY 2008 four geneticists provided part time clinical support totaling .9 of one FTE to staff the 79 RGCS clinics. Recruitment continues to hire at least one more physician to replace the 2 that resigned in 2006 and 2007. Five genetic counselors/nurses were employed in FY2008: three full-time, one 30% time, and a fulltime program coordinator with administrative and clinical responsibilities. Together these individuals make up a total of 4 full time position/equivalents (FTE’s) to provide the clinical and educational activities for the program. Each full-time counselor/nurse staffs 20 clinics as the primary counselor and another 3-4 clinics as the second counselor/registration person. Kim Horton continues to staff/provide genetic counseling in the Metabolic RGCS clinics. The RGCS program also continues to employ part-time local staff, CHSC staff, and University students to do the clinic registration in the majority of clinic sites. These individuals are a valuable resource, decreasing the number of out-of-office days for full time counseling staff. Currently part-time registration staff is available in Burlington, Cedar Rapids, Davenport, Des Moines, Dubuque, Ottumwa, and Waterloo. During FY 2008 a November Sioux City clinic was cancelled due to physician illness and a May Cedar Rapids clinic was cancelled due to the flood. Sioux City patients were rescheduled into other clinics and the Cedar Rapids clinic was rescheduled in July when Mercy Hospital was again able to provide space for the RGCS clinic. Four physician staffed and four nurse practitioner staffed Des Moines Metabolic RGCS clinics were held in FY 2008. The patient “No Show” rate at clinics for this year continued at a low 5.6%. This is monitored monthly by the RGCS coordinator in order to identify new problems or trends that need to be addressed. Activities that were initiated a few years ago to deal with this issue are continuing and include: reminder calls to all scheduled patients the day before each clinic, counselor/nurse telephone confirmations of the time and location of patient appointments with specific directions as needed, new clinic appointment letters with specific directions and maps and a policy requiring patients who are “No Shows” to be re-referred by their physician in order to be scheduled another appointment in an RGCS clinic. The demand for genetic services continues to remain high. Table 2 displays the number of new referrals for genetic evaluations received by the genetics schedulers from mid June of 2002 through June of 2008. These referrals are for all programs in the University of Iowa Genetics Division, with RGCS referrals for FY 2007 and 2008 noted in the parentheses. RGCS patient referrals currently are triaged by the RGCS Coordinator and staff into clinic appointments based on: the urgency/ severity of the referral, the timing of upcoming clinics in the patient’s home region, the wishes of the family and/or referring entity, the family’s willingness and/or ability to travel, and availability of appointments in specific clinics. Most clinic sites are completely booked several months in advance. As a result, newly referred patients often have to wait at least 3-4 months to be seen in clinic. Referrals of patients to the genetics programs provided by the University of Iowa, Division of Medical Genetics, including the RGCS, continued to be received and scheduled by either an RGCS scheduler in the Genetics Division or Pediatric Department scheduler in FY 2008. During the summer of 2008 changes began to move all scheduling to University Pediatric Scheduling Department. Page 4 NEW REFERRALS TO GENETICS SERVICES AT UNIVERSITY OF IOWA JUNE 2002-JUNE 2008 Table 2 DATE 6/20/02-6/25/03 6/6/03-6/1/04 6/1/04-5/27/05 5/31/05-6/30/06 7/3/06-6/29/07 7/2/07-6/29/08 * RGCS referrals in parentheses. #New Referrals 883 865 1058 1006 1069 (614)* 1061 (542)* # Working Days 257 250 251 255 252 251 Average/Day 3.4 3.5 4.2 3.95 4.24 (2.43)* 4.22 (2.16) The number of visits that were the primary responsibility of the counselor for FY 2008 was approximately 118 (not including those seen by the nurse practitioner) which is up approximately 30% from the previous year. These included patient appointments for a variety of problems/issues including presymptomatic Huntington’s disease testing, hemochromatosis, family history of cystic fibrosis, family and/or personal history of breast and/or ovarian cancer, hemoglobinopathies, Duarte galactosemia, PKU, review of test results and collection of tissue/blood samples for further testing. The majority of these appointments were double scheduled (~74%), meaning the staff physician was attending to another patient at the same time. This increase in counselor staffed double booked appointments has had a positive impact on the total number of patients able to be scheduled/seen. Table 3 displays the backlog of patients needing to be scheduled into each clinic site (includes new referrals and follow-up patients) and the dates of the next open appointments. The backlog for most sites continues to be stable or is trending up. The backlog in Des Moines continues to be a major issue. Although 27 or 28 general genetics RGCS clinics have been held yearly FY 2006-FY 2008 (not including metabolic clinics) in this site, the backlog continues to grow. Of particular concern is the fact that all clinic sites are totally booked through 2008 and there are many referrals and followup appointments needing to be made as soon as the 2009 schedule is completed. This is huge a problem when new referrals are received that need to be seen promptly. Every effort is made to quickly work these patients into appointments in an RGCS clinic or in the University of Iowa Genetics clinic. Because of this backlog and the lack of available appointments, the use of the University’s computerized televox system to contact patients due for follow-up was suspended during FY 2008. Counselors/nurses continue to monitor the backlog lists to identify individuals who should be scheduled more quickly for follow-up and those whose files can be closed. Page 5 APPOINTMENT BACKLOG RGCS SITES THROUGH JULY 2008 (does not include metabolic patients) Table 3 SITE Ames Burlington Cedar Rapids Davenport Des Moines Dubuque # Needing Appointments* 22 (11) 17 (22) 31 (33) 79 (52) 240 (90) 51 (46) Next open appointment 2/10/09 No more scheduled 1/27/09 1/13/09 1/7/09 2/12/09 SITE Fort Dodge Mason City Ottumwa Sioux City Spencer Waterloo # Needing Appointments* 16 (12) 20 (15) 34 (36) 15 (6) 24 (9) 51 (37) Next open appointment 4/1/09 2/2/09 No more scheduled No more scheduled No more scheduled 2/19/08 *2007 reported backlog in parentheses The number of patients scheduled and the new and follow up patients seen at each individual clinic site are displayed in Table 4. A typical clinic day currently has 9 forty-five minute appointment slots available to fill. In FY 2008, the average number of patients scheduled for clinic was 11.6. This high number scheduled per clinic is accomplished because of the double scheduling of patients previously discussed. In 8 of the clinic sites, new patients accounted for well over half of the total number of patients seen. This information and the backlog data are used to determine the number of clinics that will be held at each site for the coming fiscal year. Changes in the number clinics per site in FY 2008 included the addition of 1 clinic in Dubuque and 6 Des Moines Metabolic clinics and the reduction of 1 general genetics clinic in Des Moines, 1 in Fort Dodge, 1 in Mason City, 2 in Sioux City, 1 in Spencer and 2 in Waterloo. Page 6 2004-2008 RGCS CLINIC CENSUS Table 4 AMES # Sched pts/ clin day (3 clin/yr. held, 4th clin cancelled 2008 due to flood.) * Dr. ill during clin day. 2004 Sched 11 9 10 30 New 4 6 4 14 2004 Sched 13 13 11 37 New 3 2 5 10 2004 Sched 10 10 New 6 6 2004 2004 11 12 13 11 47 New 6 10 6 5 27 2004 Sched 9 8 17 New 7 1 8 FU 1 6 7 FU 2 1 5 3 11 Sched 13 12 11 7 12 55 FU 1 1 FU 0 5 5 10 Sched 11 11 22 FU 4 1 2 7 Sched 10 10 11 31 2005 New 8 7 8 23 2005 New 4 6 10 FU 4 3 7 Sched 12 12 24 FU 3 1 4 8 Sched 12 10 12 34 2006 New 10 6 6 22 2006 New 5 6 11 FU 3 5 8 Sched 11 11 22 FU 2 1 5 8 Sched 12 10 12* 34 2007 New 9 5 3 17 2007 New 3 7 10 FU 6 3 9 Sched 13 9 22 FU 3 4 2 9 Sched 11 11 9 31 2008 New 7 5 6 18 2008 New 3 7 10 FU 6 2 8 FU 4 2 4 10 TOTAL BURLINGTON # Scheduled patients/clinic (3 clinics in 2004, 2 in 20052008) TOTAL CARROLL # Scheduled patients/clinic (2 clinics/yr. 2003, 1 in 2004) TOTAL CEDAR RAPIDS 2005 New 5 11 9 7 3 35 FU 5 0 3 0 6 14 Sched 8 13 8 12 8 7 12 6 6 80 2006 New 2 8 4 6 2 0 4 2 2 30 FU 3 3 2 4 5 5 7 3 4 36 Sched 12 12 12 16 52 2007 New 7 4 7 6 24 FU 3 8 5 7 23 Sched 16 13 14 43 2008 New 9 7 8 24 FU 2 6 5 13 # Scheduled patients/clinic day (4 clinics/yr 2004, 5 in 2005, 9 in 2006, 4 in 2007reduced due to physician resignation, 3 in 2008- 1 cancelled due to flood) TOTAL CRESTON # Scheduled pts/clinic (2 clinics /yr. 2004) TOTAL Page 7 DES MOINES Sched 12 16 13 16 14 11 12 10 11 11 11 10 10 11 12 # Scheduled patients/clinic 11 day (18 clinics/ year in 2004, 12 23 in 2005, 28 in 2006, 30 in 13 2007-2 Metabolic clinics, 35 in 2008-8 Metabolic) TOTAL 216 FT. DODGE #Scheduled patients/clinic day (4 clinics/year in 2004, 2 in 2005-2007, 1 in 2008) TOTAL Sched 9 6 11 11 37 2004 New 2 10 6 7 7 5 11 6 8 7 7 4 7 7 8 7 5 3 117 2004 New 5 5 4 5 19 FU 5 1 5 6 17 Sched 9 10 19 FU 7 6 3 7 5 4 1 1 3 2 3 6 1 3 4 3 2 8 69 Sched 11 11 10 10 12 10 11 11 11 11 14 11 8 12 13 12 10 13 13 11 13 12 13 263 2005 New 8 4 4 6 6 5 9 8 9 5 4 9 2 8 7 4 5 5 6 5 7 7 3 136 2005 New 6 2 8 FU 3 2 5 Sched 11 11 22 FU 0 4 2 3 2 2 1 1 2 6 7 2 3 3 3 6 2 4 5 4 3 3 7 75 Sched 11 11 14 10 13 12 12 12 12 11 12 12 13 12 11 16 11 12 11 12 12 11 9 12 12 11 13 11 331 2006* New 8 11 7 6 8 9 9 6 5 6 6 2 4 4 2 15 8 7 1 6 6 7 6 7 4 3 4 9 176 2006* New 6 9 15 FU 2 1 3 Sched 11 10 21 FU 1 0 4 1 2 2 1 4 4 4 4 6 6 5 2 0 3 2 7 5 2 4 0 5 7 7 4 1 93 Sched 11 12 11 13 11 11 11 12 11 11 9 11 11 13 10 11 11 12 11 11 13 10 12 11 13 9 14 14 12 12 344 2007 New 8 7 7 8 6 9 7 9 6 10 5 9 8 12 6 8 9 5 8 3 7 6 6 4 8 7 4 0 6 5 203 2007 New 6 6 12 FU 5 3 8 Sched 12 12 FU 3 4 1 3 2 2 3 1 3 3 2 2 0 0 3 2 2 4 2 7 5 2 4 4 3 2 7 14 3 4 97 Sched 11 8 11 12 11 11 11 14 12 13 11 11 11 11 12 13 13 10 14 15 12 16 10 10 10 10 13 12 11 10 11 10 10 10 10 400 2008 New 3 0 5 6 4 7 7 9 2 0 8 5 4 7 6 8 5 6 5 1 9 11 6 4 8 7 5 0 8 8 6 5 8 6 6 195 2008 New 6 6 FU 5 5 FU 6 8 5 6 7 4 4 5 9 13 3 5 4 2 5 2 7 3 8 14 2 4 4 6 0 0 10 12 4 2 4 5 2 4 4 183 Page 8 MASON CITY # Scheduled patients/clinic day (4 clinics/yr 2004- 2006, 3 in 2007, 2 in 2008) TOTAL OTTUMWA # Scheduled patients/clinic day (3 clinics/yr 2004- 2008) TOTAL SIOUX CITY Sched 12 11 11 12 13 59 Sched 15 13 10 38 Sched 11 11 14 12 48 2004 New 5 6 11 8 30 2004 New 11 9 5 25 2004 New 6 5 3 3 3 20 2004 Sched 11 13 12 36 New 8 8 7 23 2004 Sched 15 11 10 12 13 11 11 10 12 12 11 14 142 New 4 5 6 10 7 6 5 5 4 5 6 8 71 FU 9 4 2 2 3 3 4 5 8 6 5 2 53 Sched 11 11 10 11 10 10 11 12 12 10 8 11 127 FU 6 3 5 14 Sched 13 10 10 10 43 FU 3 2 4 7 5 21 Sched 10 11 10 9 40 FU 3 2 3 8 Sched 11 13 11 35 FU 1 2 2 4 9 Sched 11 11 13 12 47 2005 New 5 5 9 3 22 2005 New 6 7 6 19 2005 New 5 6 6 8 25 2005 New 4 5 8 5 22 2005 New 3 4 4 7 7 3 7 12 8 8 5 4 72 FU 5 2 5 3 2 5 2 1 2 2 2 3 34 Sched 12 10 14 10 11 10 11 12 11 12 11 11 135 FU 6 3 0 2 11 Sched 10 11 10 13 44 FU 3 6 2 2 13 Sched 11 10 10 9 40 FU 2 2 3 7 Sched 10 11 12 33 FU 4 3 1 2 10 Sched 12 11 11 12 46 2006 New 9 10 5 6 30 2006 New 6 7 9 22 2006 New 6 6 6 4 22 2006 New 6 5 5 6 22 2006 New 6 4 7 7 5 5 1 3 5 4 5 4 56 FU 4 4 6 2 5 4 6 7 4 5 3 2 52 Sched 12 9 11 11 10 11 10 12 11 12 13 122 FU 3 3 4 7 17 Sched 8 9 10 27 FU 5 3 5 4 17 Sched 11 11 9 11 42 FU 2 1 2 5 Sched 12 11 11 34 FU 3 1 4 4 12 Sched 11 10 10 31 2007 New 4 4 7 15 2007 New 7 10 8 25 2007 New 8 5 4 10 27 2007 New 3 4 7 14 2007 New 9 5 8 8 7 4 5 8 5 10 4 73 FU 2 1 2 2 3 2 3 1 5 3 4 28 Sched 11 13 13 9 13 11 11 9 16 106 FU 6 4 6 16 Sched 12 11 23 FU 2 3 5 2 12 Sched 11 11 22 FU 4 3 4 11 Sched 11 12 9 32 FU 7 7 2 16 Sched 14 10 24 2008 New 5 7 12 2008 New 7 6 3 16 2008 New 3 3 6 2008 New 8 9 17 2008 New 5 7 4 4 9 6 4 5 8 52 FU 2 6 7 4 3 3 3 2 7 37 FU 3 3 6 FU 6 5 11 FU 2 2 3 7 FU 7 3 10 # Scheduled patients/clinic day (5 clinics/ year 2004, 4 in 2005- 2007, 2 in 2008) TOTAL SPENCER # Scheduled patients/clinic day (3 clinics/yr 2004 & 2007, 4 in 2005 & 2006, 2 in 2008) TOTAL WATERLOO # Scheduled patients/clinic day (12 clinics/ year in 20042006, 11 in 2007, 9 in 2008) TOTAL Page 9 AGE AND GENDER OF PATIENTS EVALUATED 2003-2007* (unduplicated each individual year) Table 5 2003 AGE 1-364 dys 1-4 yrs 5-9 yrs 10-14 yrs 15-19 yrs 20-29 yrs 30-39 yrs 40-49 yrs 50-59 yrs 60-69 yrs 70 &older Totals Female 60 75 57 33 19 30 24 10 13 5 2 328 Male 39 90 56 42 22 18 19 4 5 1 1 297 2004 Female 53 77 70 32 21 24 23 7 6 3 0 316 Male 49 96 68 59 21 11 10 7 2 3 0 326 2005 Female 58 71 65 37 21 32 20 20 12 2 4 342 Male 67 118 77 46 16 14 9 5 4 3 1 360 2006 Female 61 91 49 44 22 29 23 5 7 5 1 337 Male 65 102 92 55 21 13 13 3 4 0 3 371 2007 Female 61 119 44 23 25 23 8 59 9 3 1 375 Male 51 123 48 15 11 14 11 71 4 1 1 350 Total Female 293 433 285 169 108 138 98 101 47 18 8 1698 Male 271 529 341 217 91 70 62 90 19 8 6 1704 Table 5 summarizes the unduplicated age and gender distribution of the patients seen in the RGCS program from 2003 through 2007. During calendar year 2007, 375 females and 350 males were seen, the majority of which (61.5%) were under the age of ten. Data collected from each clinic during FY 2008 on the 282 children seen age 0-3 years indicates that approximately 105 referrals were made and/or recommended for a wide variety of local and/or UIHC medical and educational specialty services including: Area Education Agency, Early Access, Ill and Handicapped Waiver, Department of Human Services, Shriners, Down syndrome clinic, ophthalmology, endocrinology, otolaryngology, orthopedics, neurology, cardiology, urology, immunology, allergy/pulmonary, dermatology, audiology, the Center for Developmental Disabilities, physical and/or occupational therapy, and dentistry. As in the past, the most common referrals by far for this age group continue to be to the AEA and the ophthalmologist. A continuing area of concern identified in the 2004 Needs Assessment relates to provision of high risk cancer counseling. During FY 2008 all of this counseling was provided by the physicians and nurse/counselors within the program with the assistance of two RGCS counselors who have increased expertise in cancer genetics as a result of attending in-depth cancer counseling workshops. In FY 2008, seventeen (9.5%) of the 179 adult (individuals 18 and older) visits in RGCS clinics were for an increased risk for various cancer syndromes. When appropriate, patients are also referred to other high-risk cancer counseling clinics in Iowa and surrounding states. A list of these clinics is maintained and available for staff and schedulers. Page 10 RACE/ETHNIC DISTRIBUTION OF PATIENTS EVALUATED 2002-2007 (Unduplicated each individual year) Table 6 2005 Race 2003 2004 2006 2007 Total White Black American Indian Hispanic Oriental/Asian Other/Isolate Other Unknown Total 482 27 1 26 4 0 24 61 625 512 18 4 30 4 1 28 45 642 522 27 1 47 9 1 33 63 703 529 33 3 37 5 0 23 78 708 521 34 8 34 7 0 19 102 725 2566 139 17 174 29 2 127 349 3403 A number of factors are known to be barriers for patients/families and affect their ability to obtain genetic services, including race/ethnicity, language barriers, geographical accessibility of the clinic from the client’s county of residence, availability and type of insurance coverage, and ability to pay. Table 6 summarizes data regarding the unduplicated racial/ethnic distribution of the individuals seen in the RGCS program from 2003-2007. In order to address the language barrier the RGCS provides interpreters when ever possible. In FY 2008, 18 patients/families needed Spanish interpretive services. The cost of interpretive services continues to be a concern, running from $17-50/hour with most sessions being billed for 1 ½ to 2 hours. In some clinic sites, interpretive services from local hospitals /communities have been made available to RGCS clients at reduced or no cost. Geographic distance to health care/genetic services continues to be a major issue for some families. In some cases, families referred to the RGCS have no transportation, unreliable transportation, and/or no money to purchase gas. Some must rely on family or friends to get them to their appointments. During FY 2008, patients/families were seen from 80 of Iowa’s 99 counties. The counties with the highest numbers of visits continue to be those counties with larger cities and a greater population base: Clinton, Linn, Dubuque, Black Hawk, Scott, Polk, Story, Warren and Woodbury. All but two of these counties have a city that is an RGCS clinic site, and 69 of the 79 clinics for FY2008 were held in these locations. Counties with no visits during FY 2008 include: Adams, Audubon, Cass, Mills, Montgomery, Page, Pottawattamie, and Ringgold counties from the SW corner of the state; Ida counties near Sioux City; Lyon and Osceola counties from the NW corner of the state; Allamakee, Howard, Winneshiek, and Worth counties from NE and north central Iowa; Keokuk and Van Buren counties in SE Iowa; and Iowa and Washington counties near the University of Iowa (genetics services available at this location). Although the 12 RGCS sites are spread throughout much of the state, it is clear that individuals from the far SW region of Iowa continue to be under-served by the RGCS program. The Des Moines site continues to be the closest clinic site for individuals in this region and the number of clinics held at this site have increased substantially over the past 5 years. Page 11 FEE REDUCTION STATISTICS RGCS FY 2003-2008 0% Reduct. 162 201 164 192 200 208 1127 (24.3%) 25% Reduct. 29 18 19 17 25 26 134 (2.9%) Table 7 50% Reduct. 35 34 28 35 33 28 193 (4.2%) 75% Reduct. 56 42 31 26 30 29 214 (4.6%) 100% Medicaid Reduct. 474 453 474 514 527 525 2967 (64.0%) 362 333 375 413 418 432 2333 (50.3%) FY 2003 2004 2005 2006 2007 2008 # Clinics 80 79 79 85 81 79 Hawk-I 8 15 6 11 17 11 68 (1.5%) Total 489 0% Reduction: < 185% of poverty; 25% Reduction: 186-224% of poverty; 50% Reduction: 225-262% of poverty 75% Reduction: 263-300% of poverty; 100% Reduction: >300% of poverty Families with lower socioeconomic levels and the working underinsured poor may not be able to access specialized healthcare for financial reasons. The RGCS program continues to offer families a reduced cost for service based on a sliding fee scale with income guidelines established and revised yearly by the federal government. The sliding fee scale offers a reduction in the physician charge to qualified families based on their annual adjusted gross income, outstanding medical expenses, and the number in their family. Table 7 summarizes the fee reduction statistics and numbers of individuals covered by Medicaid or Hawk-I that were seen in clinic from FY 2003-FY 2008. The majority of the patients seen in the RGCS (64.3%) in FY 2008 qualify for no fee for the service and another 10.2% qualify for at least partial reduction in the fee. Over half (54.3 %) of the patients seen were on Medicaid or Hawk-I, state insurance programs. These numbers have remained constant for many years. Each year a small but significant number of families report problems accessing genetic services because of insurance problems/concerns. RGCS counselors/nurses keep a record of insurance issues/concerns of scheduled patients. In FY 2008 twenty-nine patients/families (3.5% of those seen) reported problems with: insurance denial for recommended appointments and/or tests (6); managed care restrictions regarding testing, approval for consultation only (3); prior approval required before testing can be initiated (9), prior approval desired prior to testing because of high cost/out of pocket expense (9) and high deductibles (2). Genetic tests and recommended evaluations often cost hundreds to thousands of dollars. For many, the deductible and/or co-pay make it nearly impossible for them to have recommended tests and evaluations. These evaluations are recommended to help establish a diagnosis and\or evaluate for potential complications. In some cases the testing is expressly excluded in the insurance plan. Others require prior approval or must have their local physician order testing for it to be a covered Page 12 service. In some cases, considerable time is spent prior to and/or following clinic obtaining prior approvals for visits and/or recommended tests and referrals. This very time consuming for counselors/nurses and administrative staff, requiring multiple communications over several days or weeks, including telephone calls, faxes, and letters. This is not a billable service. Evaluation of the Quality and Effectiveness of Clinical Services The main activity of RGCS program evaluation involves the assessment of patient satisfaction. A “Patient Satisfaction Survey” continues to be used to determine if the needs of the clients are being met and to identify areas for improvement. The survey and a pre-addressed stamped envelope are given to all families/patients at their clinic visit. One hundred and seventy-eight completed surveys were returned from July 2007 through June of 2008, a 24.2 % return rate. Responses on the surveys continue to be overwhelmingly positive regarding the program, its services, and staff. Greater than 99% of those responding indicate they would definitely or probably recommend the RGCS service to others. The patient and family comments are consistently very positive, indicating the patient’s/family’s appreciation for the staff’s attention, helpfulness, caring, support, patience, knowledge, and expertise and the close proximity of the clinics to their home: “The genetic counselor has been extremely helpful with both getting us info from Phil. Research Center and working with our insurance for us! Thanks!”; “Very informative and pleasant experience. Staff exceptionally polite and helpful.”; “Keep clinics out in the area—it means a lot not having to go clear to Iowa City.”; “As always the Dr’s/nurses make what could be a really frightening experience into something manageable. The information is presented in a way that isn’t scary or overwhelming. Thank you for your professionalism.”; “The information provided and the help to contact a facility we’ve been trying to for some time was great. I felt like my concerns were heard and understood. I feel like my child’s needs will be met.” The biggest area of concern, identified by 9.6% of respondents, was the length of time between scheduling an appointment and the day of the clinic visit. This is an ongoing concern of the RGCS staff as well. Unfortunately, with the current backlog, the fact that all clinic sites are currently scheduling into January 2009 and the planned reduction of clinics for FY 2009 in response to the decreased physician numbers, this long wait time for an appointment is not surprising and is likely to continue until more physicians can be recruited. In the meantime, every effort will be made to get high priority/critical cases seen quickly in an RGCS clinic site or at the University. Some of the survey respondents (~9%) still find it difficult to locate the RGCS clinics within the community and/or hospital or clinic site. In the past few months, a new appointment letter with a map and revised directions to the clinic space began going out for all appointments. Hopefully this will be of help to our patients/families. In addition, nurses/counselors doing telephone preclinic assessments and secretarial staff making reminder calls will continue to review with the family the location of and specific directions to the clinic One final area for attention involves the amount of time patients/families are waiting in the reception area at clinic for their appointment. Five percent of the respondents expressed dissatisfaction with this wait time. Although the physicians and staff strive to keep the clinic on Page 13 schedule, sometimes things happen that cause delays. One respondent mentioned that “It would have been less frustrating waiting 35 minutes for our appointment if we had known during our wait that the couple ahead of us was late to the clinic due to the weather. It is easier to be patient if you know there is a good reason for the long delay.” This person makes a good point and this is something staff could do to help ease this concern when delays are unavoidable. Program Activities Educational Counselors/nurses and physicians in the RGCS program participate in a wide variety of educational activities. The RGCS nurse/counselors documented provision of 36 educational presentations outside the Genetics Division in FY 2008. Individuals in attendance (~1340) included 215 nursing students, 125 oncology nurses, 15 pathology residents and fellows and almost 1,000 high school and college students. Presentations were provided on a wide variety of genetic topics as requested and included general overviews of genetics and genetic counseling, genetic services in Iowa, specific genetic disorders, and genetic research. The RGCS physicians have also been involved in numerous genetics presentations throughout the state and nationally. All genetics staff continue to be involved in presenting at a weekly journal club (each individual presenting ~ every 3 months) where recent articles of interest and information from conferences are reviewed and discussed. All physicians and nurse/counselors continue to participate in the M-1 Genetics course for the 1styear medical students/graduate nurses and genetics PhD students (~150 students). The genetics physicians provide the majority of the didactic lectures for the course and all physicians and nurse/counselors assist with leadership of 4 two-hour small group discussions during the semester. Preceptored students come from a variety of programs including undergraduate and graduate nursing students; undergraduate biology students; medical students; residents; Nurse Practitioners; and Fellows in genetics, pathology and developmental disabilities. These individuals usually observe/attend one or more UIHC and/or RGCS clinics and may have nonclinic contact hours with their staff preceptor. RGCS counselors documented preceptoring 26 individuals in FY2008. These educational endeavors varied from brief 4 hour observations experiences in an RGCS clinic to a very extensive clinical training program with attendance at multiple UIHC and RGCS clinics and over 100 hours of non-clinical contact hours per semester. The RGCS program continues to be promoted on the Iowa Department of Public Health (IDPH) website. This website includes information about the RGCS program, individuals who might benefit from the program, pertinent information to assist clients in accessing the service, and the schedule of upcoming clinics. IDPH staff maintains the website, updating, revising and adding new information as needed. The RGCS brochure completed in FY 2007 continues to be used as a tool for education and promotion. It provides families and medical professionals with information about: the RGCS program and its services, which individuals and families may benefit from RGCS services, Page 14 locations of clinics, and how to make a referral or request someone to provide educational programs. These brochures are distributed at presentations, workshops, health fairs/booths and by other medical professionals through their clinics as a way to explain the services available in the RGCS program. The RGCS staff continue to provide disorder specific information and when available, educational brochures, to patients, caregivers, and medical personnel. Educational brochures are often produced by national support groups and are distributed for a small fee, usually 50 cents to $5. A grant from the Children’s Miracle Network continues to provide funding to purchase folders and many valuable educational brochures for individual patient/family education. With constantly expanding genetic information and testing and the need for local medical professionals to take more responsibility for their patient’s specialized testing and management, it is apparent that more genetics educational opportunities/programs are needed. Although the genetics staff is highly qualified and committed to providing support and education for local medical professionals, we have been unable to give any additional attention to this in FY 2008 with the reduced physician numbers. On request, physicians and/or counselors have continued to provide presentations to medical professionals at clinic sites, medical facilities and conferences. RGCS FY 2008 Annual Report Prepared by: Catherine A. Evers, R.N., M.A. Coordinator, Regional Genetics Consultation Service University of Iowa Hospitals & Clinics 200 Hawkins Drive, W121 GH Iowa City, IA 52242 Val Sheffield, MD, PhD Director, Division of Medical Genetics University of Iowa Hospitals & Clinics 200 Hawkins Drive, W119 GH Iowa City, IA 52242