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Maine Dartmouth Family Medicine Residency

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					Cancer in the Family: Caring for
   Survivors and Families

               Cancer in the Family:
               Primary Care Matters
               The Jackson Laboratory
               April 13, 2012
               Susan Miesfeldt, MD
               Maine Medical Center
               Objectives:
•Impact of cancer genetic risk assessment on care
of women with hereditary breast and ovarian cancer
• Impact of cancer genetic risk assessment on care
of individuals with hereditary colorectal cancer
(Lynch syndrome and FAP)
• Awareness of impact on genetic testing decision-
making for children and on reproductive decision-
making (preimplantation genetic diagnosis)
•Cancer genetic services in Maine
               Objectives:
•Impact of cancer genetic risk assessment on care of
women with hereditary breast and ovarian cancer
• Impact of cancer genetic risk assessment on care of
individuals with hereditary colorectal cancer (Lynch
syndrome and FAP)
• Awareness of impact on genetic testing decision-
making for children and on reproductive decision-
making (preimplantation genetic diagnosis)
•Cancer genetic services in Maine
         HBOC: Compliance with management
          recommendations (breast cancer)
              NCCN                       Compliance      Citations
              Guidelines                 (BRCA+)
Mammo         Yearly alternating with 68-95%             Botkin 2003, Lerman 2000,
              MRI beginning age                          Phillips 2006, Claes 2005,
                                                         Metcalfe 2008
              25 or per family
              history
MRI           Yearly a/w mammo           31%             Metcalfe 2008
              beginning age 25 or
              per family history
RRM           Discuss option on          9-54%           Beattie 2009, Tercyak 2007,
              case-by-case basis                         Scheuer 2002, Phillips 2006,
                                         (US range       Claes 2005, Lodder 2002,
                                         14.9-48%)       Meijers-Heijboer 2000, Metcalfe
                                                         2008, Metcalfe 2008, Feibel 2007

NCCN-National Comprehensive Cancer Network 2011; HBOC-Hereditary breast and ovarian ca
     HBOC: Compliance with management
      recommendations (ovarian cancer)
          NCCN Guidelines            Compliance      Citations
                                     (BRCA+)
TVUS+/-   Consider TVUS and CA-      21-100%         Beattie 2009, Uyei
          125 q 6 mos beginning                      2006, Schwartz
CA-125                               (US range 21-   2003, Botkin 2003,
          35 years or based on       72.9%)
          family history for those                   Scheuer 2002,
          not electing BSO                           Lerman 2000,
                                                     Phillips 2006, Claes
RR BSO    Recommended ideally     13-75%             2005, Lodder 2002,
          between 35 and 40 years (US range 13-      Meijers-Heijboer
                                                     2000, Madalinska
                                  51%)               2007, Metcalfe 2008,
                                                     Friebel 2007
Uptake of HBOC Recommendations
 • Compliance with breast cancer screening often improves
   after notification of +BRCA result
 • Few studies have examined compliance with MRI
 • Ovarian cancer screening not widely adopted
 • Risk reducing mastectomy
    – Decision influenced by personal risk factors (young age, strong
      family history, cancer), psychological issues (cancer-distress),
      recommendations of provider, cultural (country), health care
      system
 • Risk reducing BSO
    – Decision influenced by age (older), personal history of breast
      cancer, perceived risk, cultural (country), provider
      recommendation
     HBOC Care : MMC Experience*
                    Uninformative (n=36)      BRCA+ (n=7)
                    or untested (n=26)
   MRI              4%                        N/A

   TVUS/CA125       17%                       N/A

   RRM              13%                       72% (5/7)

   RR BSO           23%                       100%

   Tamoxifen        35%                       N/A
*(n=69;31% response rate)
                            Morgan et.al., Familial Cancer 2009
           Objectives:
•Impact of cancer genetic risk assessment on care
of women with hereditary breast and ovarian cancer
• Impact of cancer genetic risk assessment on care
of individuals with hereditary colorectal cancer
(Lynch syndrome and FAP)
• Awareness of impact on genetic testing decision-
making for children and on reproductive decision-
making (preimplantation genetic diagnosis)
•Cancer genetic services in Maine
        Lynch syndrome: Compliance with
         management recommendations
                  NCCN Guidelines          Compliance      Citation
                                           (MMR gene+)
Colonoscopy       Every 1-2 years          53-100%         Halbert 2004,
                  beginning age 20-25      (US range 53-   Hadley 2004,
                  years or per family      73%)            Collins 2005,
                  history                                  Claes 2005
Uterine/ ovarian Annual endometrial        Some gyn        Claes 2005,
screening        sampling may be           screening in    Collins 2005,
                  useful                   53-85%          Wagner 2005
                  TVUS considered at
                  clinician’s discretion
    Lynch syndrome: Compliance with
     management recommendations
             NCCN Guidelines     Compliance           Citation
                                 (MMR gene+)

RR TAH-BSO   Consider risk       •69% would
             reducing TAH-BSO    consider TAH-
                                                      Lynch 1997
             when childbearing   BSO if genetic
                                 test +; 46% would
             completed
                                 consider
                                 colectomy if + (no
                                 post-test f/u)
                                 •Among 21 LS-
                                 affected women:
                                 2/5 with previous    Collins 2005
                                 hysterectomy
                                 underwent BSO
Factors associated with f/u colonoscopy in
            Lynch syndrome

• Strongest factor is receipt of +genetic
  test result
• Older age
• Greater perceived control over CRC
     FAP: Compliance with management
            recommendations
            NCCN Guidelines Compliance   Compliance Citation
                            (APC+)       (high-risk)

Colonoscopy FAP: Annual   52%            46%         Kinney
            flex sig or                              2007
            colonoscopy
            beginning 10-
            15 years
            AFAP:
            Colonoscopy 58%              33%
            beginning age
            20 years
Psychological impact of cancer genetic testing

• Systematic review of 15 papers: including 3 studies of HBOC
  and 1 of FAP (carriers vs non-carriers)
• Assessed subjects at baseline and up to 6 mo post-test
• No study showed increased distress (general distress, anxiety,
  depression) post-test
• Both carriers and non-carriers had reduced distress post-test
  (greater and more rapid among non-carriers)
• Result (positive or negative) rarely predictive of distress more
  than 1 mo post-test
• Pretest emotional state predictive of distress

                     Broadstock Eur J Hum Genet 2000
    Psychological impact of cancer
          genetic testing II
• Studies suggest that those undergoing testing do
  not suffer significant adverse psychological
  consequences
• However, studies included self-selected
  participants followed for limited periods of time
• Studies show that there should be a pre-test
  assessment of emotional state so that post-test
  counseling can be targeted to those in greatest
  need of support
• More research needed in this area

           Broadstock Eur J Hum Genet 2000
              Objectives:
•Impact of cancer genetic risk assessment on care
of women with hereditary breast and ovarian cancer
• Impact of cancer genetic risk assessment on care
of individuals with hereditary colorectal cancer
(Lynch syndrome and FAP)
• Awareness of impact on genetic testing decision-
making for children and on reproductive decision-
making (preimplantation genetic diagnosis)
•Cancer genetic services in Maine
Arguments for and against cancer genetic
           testing in children
• Arguments for testing      • Arguments against testing
  – Access to early preventive – Absence of immediate
    strategies                   benefits and potential for
  – Removes uncertainty, can     many healthy years before
    prepare child                medical implications
    psychologically and for    – Psychological burden on the
    the future                   child and parent (“dark
  – Parental right to know       future”) and danger of
    because it is their child    stigmatization
                               – Child’s personal autonomy-
                                 his/her right to decide as adult

                                              Borry 2007
   Genetic testing in children/adolescents:
          Policy recommendations

• Timely medical benefit to the child should be
  the primary justification for genetic testing in the
  child (e.g.,FAP, retinoblastoma versus HBOC,
  Lynch syndrome)
• If medical or psychosocial benefits of a genetic
  test will not accrue until adulthood, testing
  should be deferred


                    ASHG/ACMG 1995; ASCO 2003
Genetic testing in children/adolescents:
                Policy II
• If balance of benefits and harm are uncertain,
  provider should respect decision of competent
  adolescent and their families
• Testing should be discouraged if harms outweigh
  risks; the provider is obligated to advocate on behalf
  of the child/adolescent
• Education and counseling of the parents and child
  (based on maturity) should precede testing and f/u
  medical, genetic and psychosocial care should be
  readily available to families

                  ASHG/ACMG 1995; ASCO 2003
              Impact on Children
• Despite recommendations that genetic testing for adult
  onset cancer-related conditions be restricted to those
  18 years and over:
  – Survey of parents show more interest in testing children for
    HBOC than in undergoing testing themselves
  – In general population survey, 71% would test 13 year old
    daughter if they had BRCA mutation
  – Among a cohort of HBOC-affected women, 66% had
    disclosed result to one or more of their children/adolescents
  – These data emphasize the need for education and
    counseling and for more research on family communication

   Bendendorf 1997, Tercyak 2002, Borry 2007, Bradbury 2012
Reproductive decision options among those
 with hereditary cancer-related disorders
   • Remain childless
   • Have child and accept 50% risk to offspring
   • Adopt
   • Gamete donation
   • Prenatal diagnosis with potential pregnancy
     termination
   • Preimplantation genetic diagnosis
     Preimplantation Genetic Diagnosis

•   Requires documentation of mutation in parent
•   Involves IVF
•   3-day-old embryo tested for known mutation
•   Only unaffected embryos transferred to uterus
•   Has been performed in nearly all major
    hereditary cancer susceptibility disorders,
    including HBOC


                       Lammens 2009
   Preimplantation Genetic Diagnosis II
• Limited studies of awareness and interest among
  those with or at risk for HBOC
   – Awareness of technology low (20-30%)
   – Study among women with or at risk for HBOC
     revealed 33% interest in technology; interest
     associated with desire to have more children,
     previously undergoing prenatal genetic testing,
     awareness of PGD
   – Another study of those with or at risk for HBOC
     revealed that 13% would consider using PGD

           Quinn 2008, Staton 2008
Preimplantation Genetic Diagnosis III

• Overall respondents believed
  – Those at risk for HBOC should be offered PGD
  – PGD is acceptable for those at risk for HBOC
  – PGD information should be given to those at risk
  – Endorsement that PGD benefits having children
    without genetic mutation and reduces risk for
    subsequent generations


 Staton 2008, Quinn 2009, Vadaparampil 2009, Quinn 2009
PGD knowledge and experience among
          Gynecologists

• Included 373 Gyn and Gyn-Onc physicians
• 68% of clinicians had limited or incorrect
  knowledge of PGD for hereditary cancer
• 80% of Gyn-Oncs and 91% of Gyn physicians
  would refer patients to specialist
• Only 28% had referred patients


                          Brandt 2010
              Objectives:
•Impact of cancer genetic risk assessment on care
of women with hereditary breast and ovarian cancer
• Impact of cancer genetic risk assessment on care
of individuals with hereditary colorectal cancer
(Lynch syndrome and FAP)
• Awareness of impact on genetic testing decision-
making for children and on reproductive decision-
making (preimplantation genetic diagnosis)
•Cancer genetic services in Maine
ASCO Recommendations: Cancer Genetic
            Testing

• Genetic testing should be available to individual
  if:
  – personal or family history suggestive of high-risk
    condition
  – test can be adequately interpreted
  – test has proven clinical utility
  – the results will aid in diagnosis or influence the
    medical or surgical management of the patient or at-
    risk family members
                         JCO 1996, 2003 and 2010
      ASCO Recommendations: Cancer
             Genetic Testing

• Genetic testing should only be done in the setting of
  pre- and post-test counseling, which should include
  discussion of possible risks and benefits of cancer
  early detection and prevention modalities
• Stress importance of confidentiality while noting
  critical importance of counseling patient to
  communicate test results to family members, so that
  they may also benefit
     Commission on Cancer Draft 2012:
      Ensuring Patient-Centered Care
• Cancer genetic risk assessment/counseling are
  becoming standards of care for patients with personal
  and/or family history of cancer
  – The program provides cancer risk assessment and genetic
    counseling on site or by referral
  – Services are performed by a cancer genetic professional
    who has extensive experience and educational background
    to provide accurate risk assessment and empathetic genetic
    counseling
  – Cancer risk assessment and the potential for referral may be
    discussed as part of the multidisciplinary cancer conference

    CoC Working Draft Cancer Program Standards 2012
  Maine Cancer Genetic Services
 Current cancer genetic services
in Maine include:
     Maine Medical Center
     Medical oncologist & certified genetic
     counselor
     Maine Center for Cancer Medicine*
     Genetic counselor
     *only serves MCCM patients
     St. Mary’s Regional Medical Center
     Obstetrician/gynecologist

     Eastern Maine Medical Center
     PhD Geneticist & social worker



Gaps in access to high quality cancer genetic services in Maine are
apparent, particularly for those from rurally remote regions of the state
Cancer Risk and Prevention Program
   •Based in Scarborough
   •Supported by MMC and DHHS
   •Staffed by board-certified cancer genetic
   counselor and medical oncologist
   •Provides cancer risk assessment and genetic
   counseling to individuals and families
   •Offers access to high quality local and national
   clinical trials
   •Conducts research on the most effective ways to
   support and educate those at risk

 Contact or referral: 207-396-7788
Cancer Risk and Prevention Program
Decision Aids in Cancer Genetic Testing
 • Studies limited
 • Study of women considering HBOC testing
   – No effect on informed choice, decisional regret, or
     genetic testing decision
   – Improved knowledge, more informed about testing
 • Study of those pursuing Lynch syndrome testing
   – No effect on post decisional regret or actual testing
   – Lower uncertainty, more likely to classify decision as
     informed


    Wakefield 2008 Br Ca Res Treat; Wakefield 2008 Cancer
PDG Attitudes in VHL and LFS
 • 179 respondents from Netherlands (included
   affected individuals and partners)
 • Among affected individuals, 35% would consider
   using; 27% uncertain; 38% would not use.
 • Among partners, 33% would consider; 11% unsure;
   45% would not use
 • None of the respondents had used PGD
 • Desire to have children strongest predictor of
   interest




                            Lammens 2009
PDG Attitudes in VHL and LFS (n=179)

• Advantages (five choices) % • Disadvantages (five choices) %
   –   Did not endorse any         47   –   Did not endorse any         68
   –   Avoid possible termination 32    –   Long term effects unknown   18
   –   Avoid having affected child 12   –   Low success rate            10
   –   Reduced miscarriage          9   –   Chance of wrong diagnosis   10
   –   No advantages                6   –   Expensive                    8


“Awareness of reproductive options may reduce the number of
‘silent sufferers’ who chose not to have children because of risk of
transmitting risk”


                                    Lammens 2009

				
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posted:9/8/2012
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