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Genetics in Primary Care

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Presentation on theme: "Genetics in Primary Care"— Presentation transcript:

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

2 The Genetics Explosion
30 articles in the BMJ in the last 3 months 65 articles in the Guardian in the last 3 months Range of issues: Genes for common diseases e.g. ‘The Fat Gene’ PIGD GM crops Forensic DNA database HFEA bill – human / animal hybrids

3 The Daily Telegraph Genetic breakthrough hails new cancer research era
From The Times September 7, 2009 Genetic breakthrough brings cure for Alzheimer’s a step closer                                  December 16th 2009 Genetic breakthrough hails new cancer research era By Richard Alleyne, Science Correspondent The genetic code of two of the most deadly cancers has been cracked by British scientists in a world first that opens up a whole new era in the treatment for the disease. (Science Photo Library) Inflammation seen in the brains of Alzheimer's sufferers was thought to be a secondary effect of the disease. The new findings suggest that it might actually be a primary cause David Rose, Health Correspondent Supporting Genetics Education for Health

4 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

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

6 What would you like to know?

7 Family History – why do we do it?
Think of the patient you most recently asked for a family history – what was the situation / presenting problem? What did you do with that information?

8 Family History – why do we do it?
To aid with accurate risk assessment - likelihood of developing a certain disease To identify those who have an underlying genetic condition who would benefit from further information and services To identify other members of the family who may be at risk This leads to appropriate management strategies

9 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!

10 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

11 Multifactorial Inheritance
Increased risk due Genetic to family history Condition Environmental factors Genetic Factors ‘nurture’ ‘nature’

12 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

13 A typical morning surgery…

14 A ‘typical’ morning surgery…
Mrs. B, aged 52, attends for a blood pressure check as she has had 2 raised readings over the last few months. Today it is 152 / 96. She says she’s not surprised it is raised as she has just heard that her sister has been diagnosed with ovarian cancer – this has come as a shock as she has been supporting her other sister through a course of chemotherapy for breast cancer. What else would you ask?

15 Of the general population will develop cancer during their lifetime
Cancer is common 1 in 3-4 Of the general population will develop cancer during their lifetime Breast cancer: 1 in 9 women Ovarian cancer: 1 in 35 women Bowel cancer: 1 in 18 men, 1 in 20 women Incidence increases with age (risk factor)

16 Multifactorial Inheritance
Increased risk due Genetic to family history Condition Environmental factors Genetic Factors ‘nurture’ ‘nature’

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

18 Hereditary Cancer 1 in 20 cases of breast, ovarian, CRC cancer are hereditary. Breast/ovarian cancer syndromes: BRCA 1 + 2 Ass. cancers: Male Breast Cancer, Prostate Cancer, Certain melanomas, association with CML / renal cell carcinoma Colorectal cancer syndromes: FAP / HNPCC HNPCC associated cancers: ovarian, endometrial, gastric, biliary, urinary tract

19 Autosomal Dominant Inheritance

20 Risk assessment 40-50 patients age per 2000 patients in GP have 1 first degree relative with CR, breast, ovarian or uterine cancer (UK) Familial Cancer: Primary Care Management of patients at risk of breast, ovarian or colorectal cancer Based on NICE and BSG guidelines OPERA – tool for patients via MacMillan website


22 Useful information to include in referral:
Name , DOB, address, NHS number, (telephone number) Whatever family history available Name(s) of affected family members if seen by any genetics team (Pregnant or non-pregnant)

23 Genetic Services Yorkshire Regional Genetic Service (based at LGI: switchboard ) 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

24 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

25 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

26 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’

27 Familial / hereditary cancer
Family History is used to assess risk Population risk: should be reassured and managed in Primary Care Moderate / high risk (i.e. above population risk): Additional screening (mammogram +/- MRI) Risk-reducing surgery i.e. prophylactic mastectomy / oophorectomy High risk: may be offered testing for a particular syndrome

28 ‘Typical’ patient no. 1 – Mrs. B
Could / Should be offered referral to Genetics High risk for breast and ovarian cancer Offered screening: Yearly Mammogram +/- MRI from 35-50 18 monthly mammogram from 50 onwards Ovarian screening via research study Offered risk-reducing measures: Prophylactic Bilateral Mastectomy Prophylactic Bilateral Oophorectomy Offered testing: Given information and testing discussed

29 A ‘typical’ morning surgery…
Mrs T. attends, and after telling you about her athlete’s foot she bursts into tears and tells you her mother has just been diagnosed with cancer – ‘everyone in the family has it and I’m bound to get it’ What else do you ask? She tells you: Mother had breast cancer aged 64 Sister had cervical cancer in her 30’s Her grandfather had prostate cancer and died in his 80’s Her uncle developed lung cancer in his 60’s – he had been a heavy smoker all his life

30 Role of Primary Care (NICE 2006)
Women at or near population risk should be cared for in Primary Care They should receive standard information (see box in PACE Guidelines) ‘Be Breast Aware’ (NHS Breast Screening Programme and Cancer Research UK) ‘Are you worried about Breast Cancer?’ (Cancer Backup)

31 Communication… How would you try to reassure her that she wasn’t at any greater risk than the rest of the population?

32 Aled


34 John

35 Other resources for patients
Can access via macmillan website

36 The story so far… Our job is to identify the 1 in 20 patients with cancer (and their relatives) with a genetic basis PACE guidelines can help Only some patients will be offered a genetic test – management is mainly information giving, extra screening, risk-reducing surgery.

37 A typical morning surgery…

38 When to think about it: A 34-year-old lady with a history of depression comes to see you. Her sister died very suddenly 2 weeks ago at the age of 42. She also happens to be your patient, and when you look in her notes, the cause of death from PM is Myocardial Infarction

39 Familial Hypercholesterolaemia
1 in 500 people have Familial Hypercholesterolaemia 50% CVD risk by the age of 50 in men 30% CVD risk by the age of 60 in women 110,000 cases in the U.K. Only around 10,000 identified so far

40 Familial Hypercholesterolaemia
Hot Topic at present… NICE guidelines: Familial Hypercholesterolaemia (August 2008)

41 When to think about it: Simon Broome Diagnostic Criteria
TC >7.5, LDL >4.9 AND Definite FH: Tendon xanthomas in 1st or 2nd degree relative Possible FH: Family history of IHD <60 y.o.a. in 1st degree relative, and <50 y.o.a. in 2nd degree relative Family history of TC >7.5 in 1st or 2nd degree relative

42 Fig. Disease box 11 ©Scion Publishing Ltd
Cholesterol deposition in patients heterozygous for familial hypercholesterolemia. (a, b) Tendon xanthomata, and (c) corneal arcus. Fig. Disease box 11 ©Scion Publishing Ltd Photos courtesy of Dr Paul Durrington.


44 How to manage it: Manage other risk factors
Aggressively control cholesterol to lower LDL <50% level at initial measurement If not controlled with 2 agents, refer: Donald Whitelaw (Diabetes and Endocrinology Consultant, BRI) Julian Barth / Mike Mansfield (Lipid clinic, LGI) Consider referral to cardiologist for assessment of possible IHD

45 What about the Genetics?
Autosomal Dominantly Inherited Mutation in LDL receptor gene Individuals should be referred for genotyping.

46 What about the rest of the family?
‘Cascade Screening’ of all 1st and 2nd degree relatives – several pilot projects underway to figure out how to do this. Controversies: How do you assess for possible IHD? Children should be started on a statin as early as possible, around the age of 10

47 The story so far… If someone has a family history of premature heart disease or presents with a cholesterol over 7.5: Think Familial Hypercholesterolaemia

48 Other inherited cardiac conditions
Specialist clinic at LGI FH of sudden cardiac death FH of arrythmia, cardiomyopathy or connective tissue disease Can refer directly Any queries: Kath Ashcroft or mobile

49 A typical morning surgery…

50 A ‘typical’ morning surgery…
A 36-year-old man comes in ‘tired all the time’. He has several non-specific symptoms including palpitations and general aches, and you are aware he is having a stressful time at work. He is concerned, and asks you to do some blood tests.

51 Hereditary haemochromatosis
High index of suspicion in younger men who present TATT. Autosomal recessive disorders, carrier rate 1/8 – 1/10, prevalence 1/200 – 1/400. Signs, Symptoms and Complications: Non-specific – tatt, joint pain, weight loss, (impotence) Liver disease Diabetes Hypogonadotrophic hypognadism Arthritis Cardiac Disease (heart failure) Venesection improves life expectancy - normal if before development of diabetes and liver cirrhosis

52 Hereditary haemochromatosis
His ferritin came back as What would you do next? Diagnosis: Ferritin: will be raised once iron overload occurring. Can also be raised in acute phase response If ferritin high, or high index of suspicion consider checking Fasting Transferrin (earliest marker of HH) If transferrin > 45%, refer to haematologist Generally, females >50%, males >55%

53 Hereditary Haemochromatosis
Genetics: 2 mutations responsible for >95% in U.K. Many people who inherit the mutations will not develop clinical disease. Genetics dept will offer gene testing / genotyping to 1st degree relatives only.

54 Other examples! A 24-year-old man who is diagnosed with Type 2 Diabetes. He has a normal BMI, is caucasian, and has no family history. A 59-year-old man who is caring for his wife who has just been diagnosed at 57 with early onset Alzheimer’s. Her mother also had dementia of some sort.

55 A typical morning surgery…

56 Recessive Inheritance
Parents Carrier Sperm & eggs With all recessive conditions, the child can only be affected if both parents are carriers. However, rarely new mutations can and do occur The slide is sequenced, at each level explain: Both parents are carriers: they each have one altered and one usual copy of the gene instead of two usual copies. Carriers are usually healthy Each sperm and egg cell (gamete) has a 50% chance of containing the altered copy of the gene, or a 50% chance of containing the usual gene If both parents are carriers, AT CONCEPTION each child has a 25% (1 in 4) risk of being affected with the condition and a 50% (1 in 2) chance of being a carrier Offspring Normal Carrier Carrier Affected

57 Autosomal Recessive Inheritance
Affects one generation Both sexes affected Male – male transmission

58 Resources for patients
Support for families in which there is a rare genetic disorder

59 This is the slide to remember!
Our role is identify patients at risk or who may have a genetic condition and would benefit from input from Genetic Services We do this by taking and using a family history – core examples: A common multifactorial disease (e.g. IHD or cancer) occurring young, strong family history, atypical presentation Early pregnancy, or even pre-conceptually There is lots of information out there regarding individual conditions

60 Supporting Genetics Education for Health

61 Supporting Genetics Education for Health
An on-line resource to support the genetics curriculum statement is the ‘genetics in primary care module’ of the eGP project. Supporting Genetics Education for Health 61

62 Resources: Me!
YGS via LGI switchboard: ‘Recognising the common patterns of inheritance in families’ (apogi sheets

63 Thank you! Any questions?

64 Pedigree Symbols / Male Marriage / Partnership (horizontal line)
Female / Partnership that has ended Person whose sex is unknown P Offspring (vertical line) Pregnancy X weeks Miscarriage Parents and Siblings Affected Male & Female Carrier Male & Female Supporting Genetics Education for Health Supporting Genetics Education for Health

65 Supporting Genetics Education for Health
Family History Jane (28) is 6 weeks pregnant Jane’s husband Christopher (29) is an only child His parents William (60) and Margaret (59) are alive and well Jane has one brother John (34), he had one son David (10) to his first wife Alice (33). Their marriage ended in divorce John’s second wife Christine (29) had a miscarriage at 9 weeks and a son Richard (4) who has CF Jane’s father George Whitehead died at the age of 66 Jane’s mother Joan (64) is alive and well Supporting Genetics Education for Health

66 Supporting Genetics Education for Health
Joan Margaret William Hobson George Whitehead Joan 60 59 Died age 66 64 Christopher Hobson Jane Alice John Whitehead Christine 29 28 33 34 29 P 9 weeks 6 weeks David Richard 10 4 Assume Jane was tested and found to be a carrier. What is the probability that the baby in Jane and Christopher Hobson’s current pregnancy will have cystic fibrosis? (Population risk of being CF carrier for people with North European ancestry = 1 in 25) Cystic fibrosis Supporting Genetics Education for Health

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