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A family history of cancer: How to find it and what to do about it.

A family history of cancer: How to find it and what to do about it.

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A family history of cancer: How to find it and what to do about it.

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  1. A family history of cancer: How to find it and what to do about it. Lynn Greenhalgh Macmillan Cancer and General Consultant Clinical Geneticist

  2. Cancer • 1 in 3 of us develop cancer • We all know someone who has had cancer

  3. Family history of cancer • Most us of have a family history of cancer • Does is matter?

  4. Cancer Genetics • Cancer that may have a genetic basis • That is there may be an inheritable component to the cancer

  5. Cancer Genetics • If we know that someone is more likely to develop a cancer then…… • Can we offer that person options about how they want to manage that risk?

  6. Cancer Genetics • 5-10% of cancers have a genetic component • Fewer still have a single gene cause

  7. How do we identify those at risk of an inherited cancer? • We need to ask people about their family history of cancer. • Then we need to calculate and stratify their risk.

  8. Golden rules of cancer genetics • Is there more cancer than we would expect to happen by chance? • Are the cancers the same or related cancers? • Are the cancers occurring at a younger age than we would expect? • Are the cancer seen in different generations?

  9. Risk groups • Low risk • Moderate risk • High risk

  10. Low risk • Approximately that of the general population • No extra screening • May need emotional support

  11. Moderate risk • Increased risk above that of the general population • Extra screening recommended • Gene testing not appropriate (yet) • Avoid environmental exposures

  12. High risk • At high risk of developing cancer • Extra screening recommended • Gene testing sometimes available • Risk reducing surgery sometimes appropriate

  13. Management of risk groups • Low risk - Primary Care • Moderate risk – Secondary Care • High risk – Clinical Genetics

  14. What sort of cancers can be inherited? • Many different sorts. • Breast/Ovarian cancer • Bowel cancer • Endocrine cancers • Childhood cancers • Many more…

  15. Some examples of families • Breast cancer family • Bowel cancer family

  16. Breast Ovarian Cancer Family Tree

  17. Initial observations • Cancer happening at a younger age than we would expect • In different generations • Same or related cancers • More than we would expect

  18. Assessment • This family meets the high risk criteria • Put DNA forward for BRCA1 and BRCA2 analysis

  19. Results • BRCA1 mutation

  20. What the results meant for the proband • She is now aware that she is at increased risk of developing • Another breast cancer • Ovarian cancer • We discuss how she wants to manage her risk • Screening • Risk reducing surgery

  21. What the result means for family members • Mutation confirmed her affected sister • Given her access to a chemotherapy trial • Other family members can now have predicitve tests if they wish

  22. BRCA 1 • High risk breast/ovarian cancer predisposition gene • 80% lifetime risk of developing breast cancer • 40-60% chance of developing ovarian cancer • 30-50% chance of developing a second primary – breast or ovary

  23. BRCA2 • Recognition that this is a much more multisystem disorder than BRCA1 • 40-60% chance of developing breast cancer • 20% ovarian cancer if mutations are found in OCCR • 16% chance of prostate cancer • 5% chance of male breast cancer

  24. HNPCC family tree

  25. Back to basic principles • More cancer than we would expect to happen by chance? • Younger age? • Same or similar cancers? • Different generation? • Suspicious family…….

  26. Gene testing • MLH 2 mutation

  27. What now for the family? • Predicitve gene testing • Ensuring that at risk individuals are offered appropriate screening • Discussion of risk reducing surgery

  28. HNPCC – Modified Amsterdam criteria • Three individuals with colon cancer • First degree relatives of each other • One with colon cancer under the age of 50 years • Two other HNPCC related cancers • Large bowel, small bowel • Endometrial, ovarian, stomach, • uro-epithelial………

  29. HNPCC genes – MLH1 and MSH2 • Male • lifetime colon cancer risk of 80% • Female • lifetime colon cancer risk of 40-60% • lifetime endometrial cancer risk of 40-60% • lifetime ovarian cancer risk of >10%

  30. HNPCC genes – MSH6 • Colon cancer lifetime risk of > 10% • Endometrial cancer lifetime risk of 70-75%

  31. How to identify at risk families

  32. Ask about a family history of cancer

  33. Who and when…. • Wait for a patient to ask • Wait for a cancer to occur • Be proactive…

  34. Be proactive where.. • When a patient presents with a cancer? • When a patient presents with other problems? • When a patient presents for screening?

  35. Cancer Genetics Wish List • Equitable opportunity for all patients to consider their family history of cancer • Guidelines about who has a significant family history of cancer • Clear patient pathway for those with a significant family history of cancer

  36. Sefton Cancer Family History Project Sarah Reynolds, Commissioning Manager, NHS Sefton

  37. Finding out about family histories? • Patient initiated enquires • Known high risk families in general practice • Symptomatic patients • Other consultations eg hormonal contraception

  38. Best opportunity to be proactive…….. THE NEW PATIENT QUESTIONNAIRE AND INTERVIEW

  39. But should we be asking? NICE clinical guideline 41 familial breast cancer “healthcare professionals…. should not in most instances actively seek to identify women with a family history of breast cancer”

  40. Why make changes ? • Some practices ask new patients about cancer FH • Variation in what happened next • Lack of clear guidance for primary care

  41. Why make changes? continued • Breast FH clinics, NICE guidance • Referrals made to Genetics, Gynaecology, Colorectal surgeons • Need to verify reported histories

  42. Aims for the Project • Use the new patient questionnaire /consultation to ask the right cancer FH questions • Provide primary care with tools to make a broad assessment- to refer or not?

  43. Aims for the Project cont… • Put consistent referral criteria and simple pathways in place • Provide supportive patient information


  45. CONTEXT (review) • The Cancer Family History Project-pilot across several practices • Standarised New Patient Questionnaire, focused questions • One of three assessment forms used-based on referral guidelines • Pathway written for equity of service delivery • May result in an enquiry or referral with patients consent • Evaluate

  46. TRAINING NEEDS? • New Knowledge • Forms and pathways • Patient anxiety • How much to say • Limits of knowledge • What happens next?

  47. COMPETENCIES • Already in place -7 in total (Kirk et al) • A framework for practice-standards for practice • What do practitioners feel they need- asking first E.g Genetics of cancer Managing issues arising Anxiety Ethical dilemmas e.g Confidentiality

  48. DELIVERING TRAINING(For the project) Overall Aim; Competent and Confident Practitioners in use of genetics knowledge and skills for benefit of all patients • Modular • Utilising already developed resources-genetics education centre-Birmingham • Face to Face-based around documents developed so far • Include assessment • Evaluate and improve package-

  49. DELIVERING TRAINING(After the project) • Developing an e-learning package-Whats already in place? We don’t want to re-invent the wheel Ideas • Different learning approaches-e.g videos • Fitting with own role pressures • Modular and with ?online assessment tools • Evaluation and constant development