Transcript
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: 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)
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
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
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
top related