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Practical Genetics for Primary Care

Practical Genetics for Primary Care. 6 th February 2013 Marie-Anne O’Reilly Genetic Counsellor Nottingham Clinical Genetics Service Email: nuhnt.clinicalgenetics@nhs.net. Overview. Introduction to genetics for GPs Taking a family history Family cancer genetics

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Practical Genetics for Primary Care

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

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

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

  4. Common / important conditions 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 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 Supporting Genetics Education for Health www.geneticseducation.nhs.uk

  5. 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) Supporting Genetics Education for Health www.geneticseducation.nhs.uk

  6. 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? Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

  8. 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? Supporting Genetics Education for Health www.geneticseducation.nhs.uk

  9. 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’ Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

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

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

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

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

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

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

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

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

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

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

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

  22. 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? Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

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

  25. Autosomal Dominant Inheritance Parents Gametes At conception Unaffected Affected

  26. Hereditarygene change 1 Somatic mutation Somatic mutation Cancer Normal Tissue

  27. Hereditarygene change Somatic mutation 2 Somatic mutations Cancer Cancer

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

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

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

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

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

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

  34. 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! Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

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

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

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

  39. Case 5 55 49 69 42 George 80 75 48 78 Endometrial cancer 39 Polyps 30 Martin 42 Colorectal cancer

  40. Case 5 • Refer –high risk • Young age of onset • Endometrial and bowel cancers (other related cancers include ovarian, ureteric, renal pelvis, gastric) • Two generations • Polyps 55 49 69 42 George 80 75 48 78 Endometrial cancer 39 Polyps 30 Martin 42 Colorectal cancer Refer to Wendy Chorley - diagnoses would be confirmed, offer genetic testing to George. Bowel screening would be offered to at-risk family members. Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

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

  43. 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!) Supporting Genetics Education for Health www.geneticseducation.nhs.uk

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

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

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

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

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

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