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Supporting Genetics Education for Health www.geneticseducation.nhs.uk Practical Genetics for Primary Care 6 th February 2013 Marie-Anne O’Reilly Genetic.

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Presentation on theme: "Supporting Genetics Education for Health www.geneticseducation.nhs.uk Practical Genetics for Primary Care 6 th February 2013 Marie-Anne O’Reilly Genetic."— Presentation transcript:

1 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Practical Genetics for Primary Care 6 th February 2013 Marie-Anne O’Reilly Genetic Counsellor Nottingham Clinical Genetics Service Email: nuhnt.clinicalgenetics@nhs.net

2 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Overview Introduction to genetics for GPs Taking a family history Family cancer genetics Making a referral to the genetic department Sources of further information Ethical dilemmas

3 Supporting Genetics Education for Health www.geneticseducation.nhs.uk When might a GP see genetics in practice? Clinical management Communicating genetic information Identifying patients

4 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Chromosomal disorders Syndromes: Down, Turner, Klinefelter. Chromosomal Translocations Autosomal dominant disorders Adult polycystic kidney disease Neurofibromatosis Huntington Disease Hypercholesterolemia Marfan Syndrome Familial Cancer Bowel/Uterine/Ovarian ?Lynch Breast/Ovarian/Prostate ?BRCA1/2 Autosomal recessive disorders Cystic Fibrosis Haemoglobinopathies Haemochromatosis X-Linked disorders Duchenne and Becker Muscular dystrophies Haemophilia A Fragile X Variable inheritance patterns Deafness Muscular dystrophies Common / important conditions

5 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Other common referral reasons Developmental delay Autism / Asperger / Autistic spectrum Seizures FH hearing loss / visual problems Recurrent miscarriage Pregnancy issues (e.g. differences noted on scan)

6 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Questions a patient may ask What’s wrong? What does the future hold? Is there a cure? Why did it happen? Will it happen again? Will it be as bad or worse? Whose fault is it? Are there any tests? Who else is at risk?

7 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Why is the patient asking their question now?

8 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Why is the patient asking their question now? Recent diagnosis? Anniversary of a birth/death of an affected family member? Approaching the age others became affected? Screening becoming available? Planning marriage/beginning a family/buying a house? Pressure from family/friends? Religious aspects? Media reports about the condition?

9 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Genetic family history 1. Why is family history information important to my practice? 2. How do I collect and record family history information? Factsheets, animations, slides and videos ‘Medical Family History Drawing Tool’ Worksheets for practising drawing pedigrees 3. How do I interpret family history information? Factsheets and slides on ‘Understanding Modes of Inheritance’’ Factsheets and worksheets on ‘Interpreting a Family History’

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

11 Supporting Genetics Education for Health www.geneticseducation.nhs.uk SB Unaffected person, sex unknown Twins: identical; non-identical Double line shows consanguineous couple Stillborn baby, unknown sex Therapeutic abortion Affected male Unaffected female who has died Affected female Spontaneous abortion

12 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Is my baby at risk of cystic fibrosis?

13 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Scenario… Watch a video of a GP being consulted by Jane Hobson. She is in the early stages of pregnancy and is consulting him about the risks to her baby of having cystic fibrosis. Her nephew, Richard Whitehead, was diagnosed as having cystic fibrosis as a result of the neonatal cystic fibrosis screening programme. The medical family tree (pedigree) will be taken from Jane Hobson. Please draw out the pedigree as it is being taken.

14 Supporting Genetics Education for Health www.geneticseducation.nhs.uk CF video family history clip

15 Supporting Genetics Education for Health www.geneticseducation.nhs.uk George Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10

16 Supporting Genetics Education for Health www.geneticseducation.nhs.uk From the family pattern, who must be carriers for cystic fibrosis? George Whitehead Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10

17 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Is the probability of Jane Hobson being a carrier for cystic fibrosis sufficiently high to offer testing? or George Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10

18 Supporting Genetics Education for Health www.geneticseducation.nhs.uk 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? George Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10

19 Supporting Genetics Education for Health www.geneticseducation.nhs.uk At what stage should specialist genetic advice be sought? George Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10

20 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Now! -Need to identify familial mutations -Need to test partner to clarify risks

21 Supporting Genetics Education for Health www.geneticseducation.nhs.uk George Died age 65, 2007 Joan 63 John Whitehead 27 Jane 29 Christine 30 Richard Born 2004 Cystic fibrosis 9 weeks Christopher Hobson 29 William 60 Joan 63 P 6 weeks Julie 27 David 10 N/N N/dF508 dF508/dF508

22 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Pre-conceptual Counselling Is the ideal situation- facilitates optimal counselling and choice. Patient will want to know: –Inheritance pattern –Might they be affected? –What is the risk for the future children? –What options are available for pregnancy? Prenatal diagnosis Fetal sexing on blood for X-linked conditions PGD for monogenic conditions and chromosome translocations (NHS service if no healthy child) –What are the pros and cons of the options? –What will happen during a pregnancy? At what gestations? Who will organise tests and give results?

23 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Familial Cancer Genetics Inheritance patterns When to make a referral Who to refer to Sources of information and advice

24 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Dominant breast cancer genes BRCA1 and BRCA2 identified and clinical testing available. Possibly others? Lifetime risk of breast cancer 50 - 85%) Carry risk of other cancers; ovary (BRCA1 44%, BRCA2 27%), and a slightly increased risk prostate and some other cancers

25 Parents Gametes At conception Autosomal Dominant Inheritance AffectedUnaffected

26 Cancer Hereditary gene change 1 Somatic mutation Normal Tissue Somatic mutation

27 Cancer Hereditary gene change Somatic mutation Cancer 2 Somatic mutations

28 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Assessing risk where there is a history of cancer Cases

29 Supporting Genetics Education for Health www.geneticseducation.nhs.uk What factors do you think may indicate a woman is at higher risk of breast / ovarian cancer?

30 Case 1 55 Breast cancer 46 Kay 65 76 49 51 53 70

31 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 1 55 Breast cancer 46 Kay 65 76 49 51 53 70 Low risk – manage in primary care Older age of onset Different sides of the family Reassure and explain population risk, advise on symptom awareness and to report any changes in family history

32 Case 2 32 Janet Breast cancer Ovarian cancer 35 48 breast cancer 56 ovarian cancer 42

33 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 2 32 Janet Breast cancer Ovarian cancer Refer –high risk Different generations Young age onset Equal transmission through men Multiple tumours in one individual Breast and ovarian cancer 35 48 breast cancer 56 ovarian cancer 42 Refer – to Wendy Chorley (familial cancer service) – Royal Derby Hospital. They will offer a referral to genetics where indicated.

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35 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Familial Colorectal Cancer Colorectal cancer common – 1 in 25 5-10% strong genetic contribution The most important of these genetic syndromes are: - familial adenomatous polyposis(FAP) - Lynch Syndrome, or hereditary non-polyposis colorectal cancer (HNPCC) Most dominant – not all!

36 Case 3 73 52 Peter 75 60s 78 73 63 77 35 died in war 68 Colorectal cancer

37 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 3 73 52 Peter 75 60s 78 73 63 77 35 died in war 68 Colorectal cancer Low risk –reassure- advise on symptom awareness and reporting. FOB testing from 60y.

38 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 4 73 40 Peter 75 60s 78 73 43 77 35 died in war 68 Colorectal cancer

39 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 4 73 40 Peter 75 60s 78 73 43 77 35 died in war 68 Colorectal cancer Refer –moderate risk Young age of onset (under 45) Refer –to Familial Cancer Service Royal Derby Hospital. 1 st degree relatives offered bowel screening. Tumour investigations may be possible to clarify condition.

40 Case 5 Colorectal cancer Endometrial cancer 8075 69 55 78 48 42 George 49 42 30 Martin 39 Polyps

41 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Case 5 Colorectal cancer Endometrial cancer 8075 69 55 78 48 42 George 49 42 30 Martin 39 Polyps Refer –high risk Young age of onset Endometrial and bowel cancers (other related cancers include ovarian, ureteric, renal pelvis, gastric) Two generations Polyps Refer to Wendy Chorley - diagnoses would be confirmed, offer genetic testing to George. Bowel screening would be offered to at-risk family members.

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43 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Assessing cancer risk Young age of onset, pattern of similar tumours in a family (or multiple primaries in one person) Related tumours Remember ethnicity e.g. Chinese, Indian, Ashkenazi Jewish ancestry Use national / local guidelines e.g. NICE familial breast cancer Over 200 hereditary cancer syndromes described – individually rare Contact the CGS if you are unsure

44 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Cancer referrals Family cancer team (01332 785771) –Wendy Chorley: breast and bowel –Diana Mayor: breast –Samantha Crockett: ovary Direct referrals to genetics: –Known gene in the family –Unclear pattern of cancers / rare cancers Other cancer cases: –Refer to family cancer team initially

45 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Making a referral to clinical genetics Information needed –Patient’s name, D.O.B, address, GP –date of last period or due date (if pregnant) –Details of concern, name of affected person and D.O.B if possible and how they are related to your patient. –Patient’s CURRENT telephone number – home and daytime contact (check mobile!)

46 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Making a referral to clinical genetics Most referrals can be sent by post or C&B Urgent referrals should be made by telephone A referral is urgent if –The patient is pregnant –The patient is in the last stages of a terminal illness

47 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Sources of information Local or national guidelines e.g NICE Discussing with a colleague Contact the local CGS Internet

48 Supporting Genetics Education for Health www.geneticseducation.nhs.uk National Genetics Education and Development Centre

49 Supporting Genetics Education for Health www.geneticseducation.nhs.uk

50 Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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53 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Other things we do Provide open access for questions (will still need re-referral for new episode of care) Support groups if appropriate (Contact- a-family) Refer on e.g. for screening, CAMHS Offer research participation (BOCS/CORGI/DDD)

54 Supporting Genetics Education for Health www.geneticseducation.nhs.uk To refer or not refer? Please call Nottingham Regional Clinical Genetics Service for advice and information Tel: 0115 962 7728 email: nuhnt.clinicalgenetics@nhs.netnuhnt.clinicalgenetics@nhs.net See our website for referral guidelines: https://www.nuh.nhs.uk/our- services/services/genetics/clinical- genetics/

55 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Referral Address Nottingham Clinical Genetics Service, City Hospital Campus, The Gables, Gate 3, Hucknall Road Nottingham NG5 1PB Tel: 0115 962 7728 Fax: 0115 962 8042

56 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Confidentiality: Ethical Issues in Primary Care Genetics

57 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Huntington Disease Neurological condition affecting cognition and co-ordination and mood Autosomal dominant inheritance Variable onset, (30-50 av). Progressive, life-limiting, time-course 15-20 years

58 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Jane is a healthy, 24 year old patient. She comes to speak to you about her family history of Huntington Disease (HD, an autosomal dominant condition), explaining that her maternal grandmother was affected and died 1 year ago, in her 60s. Jane is aware that genetic testing is available to her family, and Jane wishes to request this, to determine if she will develop the condition herself in the future. You ask Jane how her mother feels about this issue, and Jane tells you that her mother has declined genetic testing. If Jane is tested and shown to have an expansion which causes HD, you will also have clarified that her mother will develop HD. Jane should not be offered genetic testing without first testing her mother. Strongly agree AgreeNeutralDisagreeStrongly disagree

59 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Huntington Disease National protocol for pre-symptomatic testing – blood test on minimum of session three, results at session four We see at-risk family members, along with affected patients with a new diagnosis Support from other sources: –HDA –Dr Vianithranian Consultant neurologists in Derby –Helen James, HDA Family liaison worker

60 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Mr P has been diagnosed with long QT syndrome (a heart condition which can result in sudden death). This is a dominant condition, so his 4 children (aged from 10-19 years) are all at 50% risk. Testing is advised in childhood, as there are health and screening implications for affected family members. Mr P tells you in confidence that one of his children is adopted (and therefore not at genetic risk) but does not know this. How might we proceed?

61 Supporting Genetics Education for Health www.geneticseducation.nhs.uk A similar situation… Cystic fibrosis A couple have a newborn child who is diagnosed with cystic fibrosis. As a routine next step, we counsel them about having carrier testing to confirm their carrier statuses, as this allows testing in future pregnancies and allows carrier testing for the wider family. The wife calls after the clinic to confess that she is uncertain whether her husband is the father of her baby, and does not want us to test him, for fear of disclosure.

62 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder affecting approximately 1 in 3000 male births. Boys with DMD are usually diagnosed between 4-5 years of age. In about two thirds of cases, the boy’s mother is a carrier for the condition, and at risk of having another affected boy. There is no cure for DMD. Neonatal screening of all male births should be performed to identify affected boys so that their mothers can be tested to see if they are a carrier and therefore at risk of having further affected children. Consider the statement above and indicate the extent to which you agree or disagree with it. Strongly agree AgreeNeutralDisagree Strongly disagree

63 Supporting Genetics Education for Health www.geneticseducation.nhs.uk A consanguineous couple attend the genetics clinic as they have a 7 year old son affected by Duchenne Muscular Dystrophy (DMD). Mum had genetic testing and is not a DMD carrier. The risk to future children is around 5% (due to the risk of gonadal mosaicism). They are now pregnant again and request prenatal testing. Fetal sexing was first offered and shows the baby to be female. Female carriers of DMD are healthy, and do not have muscle problems. This couple still request a CVS (with an associated 1% risk of miscarriage) to determine if the baby is a carrier. They say they will end the pregnancy if this child is a carrier. What should you do? TestUncertainNot test

64 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Erica, 35 Eve, BRCA1 No knowledge Strong family history of breast / ovarian cancer (BRCA1)

65 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Erica is 35 and registers as a new patient at her GP surgery. When registering, Erica is asked if she has any family history of concern, and states that she does not. Erica's paternal aunt Eve is also registered with the GP practice, but the two branches of the family have no contact. The GP recognises their unusual surname and remembers speaking with Eve about her strong family history of breast cancer. Upon checking his records, the GP realises that Erica will be at risk of carrying the BRCA1 genetic change in the family. The GP has an obligation to tell Erica, his new patient, information which he knows may affect her health and access to screening in the future. Strongly agree AgreeNeutralDisagreeStrongly disagree Consider the statement above and indicate the extent to which you agree or disagree with it.

66 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Huntington Disease Jordan 8 Jason 10 Mark 36 Julie 42 Michelle 36 Maria 58 Beverley 66 Howard 68 Elizabeth Died 70s

67 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Jordan 13 Jason 15 P Huntington Disease Howard 63 Elizabeth Died 70s Maria 63 Beverley Died 68 Mark 41 Julie 47 Michelle 41 Lucy 32

68 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Cystic fibrosis Homozygous for very rare genetic change

69 Supporting Genetics Education for Health www.geneticseducation.nhs.uk Thanks for your time! Marie-Anne O’Reilly Genetic Counsellor Nottingham Regional Clinical Genetics Service, Nottingham City Hospital Telephone: 0115 9627728 Email: marie-anne.o’reilly@nuh.nhs.uk


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