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					Genetics in Primary Care
Dr. Jude Hayward GPwSI in Genetics, Bradford

The Genetics Explosion
  

30 articles in the BMJ since 01/01/2008 65 articles in the Guardian since 01/01/2008 Range of issues:
 Genes

for common diseases e.g. ‘The Fat Gene’

 PIGD
 GM

crops  Forensic DNA database  HFEA bill – human / animal hybrids  Consanguinity and Anne Cryer

What does ‘genetics’ mean to you?
Craniofaciocutaneous Syndrome Mental retardation ASD / HOCM Icthyosis Sparse Hair High Forehead Prominent ears Depressed nasal bridge

What does Genetics mean to you?
Tricky  Dry  Highly Specialised – sometimes the patients know more than you do  Interesting challenge  Hard to explain to patients
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What would you like to know?

Objectives for today’s session
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To outline the scope of genetics in primary care To identify some useful guidelines and resources for clinicians To identify useful resources for patients To outline the structure of services providing care to patients with genetic issues To touch on common forms of inheritance To discuss some common presentations of patients with genetic issues To encourage ‘thinking Genetics’ where you might not have done before!

Scope of Genetics in Primary Care
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10% of consultations have genetic aspect Mostly multifactorial disease with genetic component e.g. CHD, asthma, Alzheimers, diabetes Single gene disorders e.g. CF, Huntingdon’s, (Pharmacogenetics) Reproductive issues e.g. Hbopathies

Role of Primary Health Care Team (RCGP)
General Practitioners have a key role in identifying patients and families who would benefit from being referred to appropriate specialist genetic services  Management and support of families with / at risk of genetic conditions  Consideration of FH in multi-factorial disease e.g. cancer, DM, CHD
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Genetic Services
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Yorkshire Regional Genetic Service
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Medical Staff: Consultants, Registrars Genetic Counsellors Family History Administrators DNA / Cytology labs

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Other specialties: Paediatrics, Midwives Other services:
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Haemoglobinopathy and Sickle Cell Service

GPwSI in Genetics

GPwSI in Genetics
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DH Genetics White Paper ‘Our Inheritance, Our Future’ (2003) resulted in funding for 10 GPwSI in Genetics pilot roles nationally Many potential aspects to the role In Bradford:
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Education and resources: Judith.Hayward@bradford.nhs.uk Clinical Service – I see asymptomatic patients with family histories of common cancers (breast, ovarian, bowel) Community liaison and awareness

Genetic Counselling
IS NON-DIRECTIVE  Doesn’t always result in a test!
  ‘Genetic Counselling is the process by which patients or relatives at risk of a disorder which may be hereditary are advised of the consequences of the disorder, the probability of developing or transmitting it and the ways in which this may be prevented or avoided’

Genetic Counselling (Peter Rose)
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Information gathering:
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Discuss family history Identify patient concerns / wishes Explain risks and genetic contribution Discuss screening if appropriate Preventative measures Discuss tests if appropriate Guide patient through difficult choices Institute management which patient chooses

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Information provision:
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Decision making:
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Making a referral to the YGS
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Either by letter (is on C+B) Can seek advice from GPwSI in Genetics, or oncall Genetics Dr. via LGI switchboard 0113 243 2799 Include usual patient details including phone no. Names, dates of birth of any other family members that may have been seen by a genetics service Include whether the patient is pregnant or considering pregnancy

What happens when a referral is made?
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Referral received (can be via secondary care) Questionnaire sent out by family history administrators and returned by pt Consultants review referral and FH Triage to Genetic Counsellor / Consultant Often initial contact with Genetic Counsellor Several more contacts as appropriate Appropriate management initiated Follow-up / open invite to phone back dept

Asymptomatic Patients with a Family History of Common Cancers
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NICE Guidelines: Familial Breast Cancer (May 2004) BSG Guidelines: Guidelines for colorectal cancer screening in high risk groups (2003) PACE Guidelines: Familial Cancer (Mar 2007) Not ‘flagged’ up as often as should be 40-50 patients age 35-64 per 2000 patients in GP have 1 first degree relative with CR, breast, ovarian or uterine cancer (UK)

Cancer is common

1 in 3-4
Of the general population will develop cancer during their lifetime
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Breast cancer: 1 in 11 women Ovarian cancer: 1 in 50 women Bowel cancer: 1 in 18 men, 1 in 20 women Incidence increases with age (risk factor)

Familial Cancer – a model for multifactorial disease
Sporadic cancer: 75-85%  Familial cancer: 10-20%  Hereditary cancer: 5%
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

1 in 20 of the common cancers will be hereditary

Recognising Hereditary/Familial Ca
Younger age at diagnosis of cancer  Multiple family members affected  Same cancers  Bilateral, or multiple primaries  Related cancers.... (unusual cancers)
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NICE: Risk stratification
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Low risk: similar to population risk.
 Lifestyle

and risk factor advice  Manage in Primary Care
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Moderate risk, High, Very High: Increased Surveillance
 Early

Mammography +/- MRI

Prophylactic measures:
 Mastectomy

/ oophorectomy / (colectomy)

When to ‘think’ family history
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Opportunistically
 Breast  HRT  COCP  Other…

symptoms

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New Patient Health Check?
 ?practice

nurses

Taking a family history
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Take a 3 generation family history Ask about cancer/polyps for each member If family member has had cancer:
 Type

of cancer (primary)  Smoking history  Age of onset  If one tumour, or more than one  (Jewish ancestry)

Who to refer
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Family history of breast / ovarian / colorectal
 PACE

guidelines

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Multiple relatives affected by same or related cancers at a young age

Resources for doctors
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Judith.Hayward@bradford.nhs.uk www.nelh.nhs.uk/genepool/ NHS specialist genetic library www.ngedc.nhs.uk National Genetics Education and Development Centre – many excellent resources including short summaries of clinical / genetic conditions www.rcgp.org.uk/default.aspx?page=3589 (No 6 RCGP training curriculum) http://www.nice.org.uk/page.aspx?o=CG014 (Familial Breast Cancer) http://www.bsg.org.uk/pdf_word_docs/ccs7.pdf (Familial Colorectal Cancer)

Resources for Patients
www.cancerbackup.org.uk  www.cafamily.org.uk  Bradnet (previously Asian Disability Network) 01274 224444
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Genetics Basics - Chromosomes

Recessive Inheritance
Parents
Carrier Carrier

Sperm & eggs

Offspring
Normal Carrier Carrier Affected

Dominant Inheritance
Parents
Affected Normal

Sperm & eggs

Offspring
Normal Normal Affected Affected

UK Biobank
    

Commenced November 2007 Coming to a centre near you! – Leeds recruitment centre opened 26th February this year National prospective study of causes of many disease including cancer, dementia, DM etc. Aims to build up a database of 500,000 recruits Recruits have:
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A 90 minute interview during which medical history is taken General health measures recorded (BP, urine, BMI) A blood sample taken, which is stored so that DNA can be extracted and analysed

UK Biobank
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Confidentiality issues Issues of what happens to information:
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Recruits are advised if any general measures are abnormal, and advised to attend GP Individual results not available May receive notification of research results if their sample has been included If they do and are worried, advised to contact GP!

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www.ukbiobank.ac.uk Includes letter to GP, and information leaflet


				
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