genetics in primary care.ppt

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 retardationASD / HOCM

IcthyosisSparse Hair

High ForeheadProminent 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

What would you like to know?

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!

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

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

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

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: [email protected] 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)

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

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

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

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)

Cancer is common

1 in 3-4Of 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)

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

Recognising Hereditary/Familial Ca

Younger age at diagnosis of cancer Multiple family members affected Same cancers Bilateral, or multiple primaries Related cancers.... (unusual cancers)

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)

When to ‘think’ family history

OpportunisticallyBreast symptomsHRTCOCPOther…

New Patient Health Check??practice nurses

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)

Who to refer

Family history of breast / ovarian / colorectalPACE guidelines

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

Resources for doctors

[email protected] 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

Genetics Basics - Chromosomes

Offspring

Sperm & eggs

AffectedCarrier

Parents

CarrierCarrier

CarrierNormal

Recessive Inheritance

Offspring

Sperm & eggs

AffectedAffected

Parents

NormalAffected

NormalNormal

Dominant Inheritance

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:

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

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