Genetics in Primary Care

1. Genetics in Primary Care Dr. Jude Hayward GPwSI in Genetics Pennine HDR 31/3/09

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

3. 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

4. What would you like to know?

5. Objectives for today’s session • 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!

6. Scope of Genetics in Primary Care • 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

7. 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

8. Genetic Services • Yorkshire Regional Genetic Service • Medical Staff: Consultants, Registrars • Genetic Counsellors • Family History Administrators • DNA / Cytology labs • Other specialties: Paediatrics, Midwives • Other services: • Haemoglobinopathy and Sickle Cell Service • GPwSI in Genetics

9. GPwSI in Genetics • 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: • 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

10. 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’

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

12. Making a referral to the YGS • Either by letter (is on C+B) • Can seek advice from GPwSI in Genetics, or on-call 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

13. What happens when a referral is made? • 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

14. Asymptomatic Patients with a Family History of Common Cancers • 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)

15. Cancer is common 1 in 3-4 Of the general population will develop cancer during their lifetime • 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)

16. Familial Cancer – a model for multifactorial disease • Sporadic cancer: 75-85% • Familial cancer: 10-20% • Hereditary cancer: 5% • 1 in 20 of the common cancers will be hereditary

18. Recognising Hereditary/Familial Ca • Younger age at diagnosis of cancer • Multiple family members affected • Same cancers • Bilateral, or multiple primaries • Related cancers.... (unusual cancers)

19. NICE: Risk stratification • Low risk: similar to population risk. • Lifestyle and risk factor advice • Manage in Primary Care • Moderate risk, High, Very High: • Increased Surveillance • Early Mammography +/- MRI • Prophylactic measures: • Mastectomy / oophorectomy / (colectomy)

20. When to ‘think’ family history • Opportunistically • Breast symptoms • HRT • COCP • Other… • New Patient Health Check? • ?practice nurses

21. Taking a family history • 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)

22. Who to refer • Family history of breast / ovarian / colorectal • PACE guidelines • Multiple relatives affected by same or related cancers at a young age

23. Resources for doctors • 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)

24. Resources for Patients • www.cancerbackup.org.uk • www.cafamily.org.uk • Bradnet (previously Asian Disability Network) 01274 224444

25. Genetics Basics - Chromosomes

26. Parents Carrier Carrier Sperm & eggs Recessive Inheritance Offspring Normal Carrier Carrier Affected

27. Parents Affected Normal Sperm & eggs Dominant Inheritance Offspring Normal Normal Affected Affected

28. UK Biobank • Commenced November 2007 • Coming to a centre near you! – Leeds recruitment centre has opened • 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: • 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

29. UK Biobank • Confidentiality issues • Issues of what happens to information: • 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! • www.ukbiobank.ac.uk • Includes letter to GP, and information leaflet