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GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician

GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician Clare Gibbons, Genetic Counsellor Cathy Gilpin, Genetic Counsellor. Funded by CIHR. GenetiKit Project. Purpose:

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GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician

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  1. GenetiKit Workshop Given by: Dr. Sean Blaine, Family Physician Dr. June Carroll, Family Physician Clare Gibbons, Genetic Counsellor Cathy Gilpin, Genetic Counsellor Funded by CIHR

  2. GenetiKit Project • Purpose: • To help family physicians think “genetically” • To increase knowledge about genetic testing for common disorders • To give family physicians a framework for assessing the usefulness of new genetic tests Funded by CIHR

  3. GenetiKit Project Protocol Step 1: Questionnaire #1 – already completed Step 2: Workshop • Introduce tools to help integrate genetics into practice - case example Step 3: Use project tools over next 6 months Step 4: Questionnaire #2 • $250 to compensate for your time at completion of Q2 We want to see: • What you think of our project materials • Do they help you in practice? Please do not share this information with your colleagues

  4. Workshop Outline • Why is genetics important? • Case example • GenetiKit tools • Study protocol • Gene Messenger • GenetiKit Web site

  5. Genomic medicine will change medical practice • By 2010: • Predictive genetic tests for a dozen common conditions • “$1000 genome sequencing test” • No longer only the domain of geneticists and genetic counsellors

  6. Prediction of risk of disease Individualized screening, surveillance, and prevention Safer and more effective drug therapy Individualized environmental risk factor assessment The Promise of Genetics:

  7. Genetic testing available for very few common adult onset hereditary diseases Gene-environment interaction responsible for most common diseases Lack of evidence for effective interventions The reality – Is this “genohype”?

  8. Why should family physicians know about genetics? • Common diseases • Public interest • Media coverage of genetic testing • Direct marketing of genetic testing • Patients will turn to family physicians for information and advice

  9. FP’s patients asked: Where would you go for more information about genetic testing? Carroll, Blaine et al 2002 Unpublished data

  10. What Makes Genetic Testing for Adult-Onset Diseases Different from Other Types of Testing? • Uncertainty • Will the condition develop? • When? • How severe? • Will interventions make a difference? • Direct implications for family members • Ethical, legal and social issues

  11. Case Example - Breast Cancer • 35 year old investment banker • asked her busy family doctor to refer her for genetic testing • history of breast cancer in grandmother • has heard of BRCA testing • looked at Myriad website • would like genetic testing…..

  12. Legend Breast Maternal family history 76 d. MI Breast Ca Dx 72 63 George HTN 60 Irene A&W 58 Jean ↑ Chol 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W

  13. Legend Breast Family history assessment

  14. Legend Breast Family history assessment

  15. Legend Breast Family history assessment

  16. Ontario Physician’s Guide to Referral of Patients with a Family History of Cancer to a Familial Cancer Genetics Clinic or Genetics Clinic Sources: • MOH 2002 Bulletin http://www.health.gov.on.ca/english/providers/program/ohip/bulletins/4000/bul4381.html • Ontario Medical Review (Nov 2001) www.oma.org/pcomm/OMR/nov/01genetics.htm

  17. Let’s continue the case….

  18. Pearls – Red flags for hereditary disorders • Multiple affected relatives • More than 1 generation affected • Closely related • Early age of onset

  19. Who should be offered referral for genetic counselling and/or genetic testing? • Multiple cases of breast and/or ovarian cancer in family • closely related relatives • more than one generation • Br Ca diagnosed at < age 50 • Breast cancer diagnosed at age < 35 • Family member with both breast and ovarian cancers • Ashkenazi Jewish + relatives with breast or ovarian cancer

  20. Who should be offered referral for genetic counselling and/or genetic testing?… • Family member with primary cancer in both breasts • especially if diagnosed < age 50 • Family member with invasive serous ovarian cancer • Male breast cancer • Family member with an identified BRCA1 or BRCA2 mutation

  21. Legend Breast Ovarian Ovarian Ca Dx ? Bilateral Breast Ca Dx ? Adding paternal family history 76 d. MI Breast Ca Dx 72 63 George HTN 60 Irene A&W 58 Jean ↑ Chol 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W

  22. Legend Breast Ovarian Diabetes Ovarian Ca Dx ? Bilateral Breast Ca Dx ? Paternal family history 76 d. MI Breast Ca Dx 72 63 George HTN 60 Irene A&W 58 Jean ↑ Chol 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W

  23. 90’s A&W d. 70’s Breast Ca Dx 69 Legend Breast Ovarian A&W Bilateral Breast Ca Dx 45 Dx ? Paternal family history 76 d. MI Breast Ca Dx 72 63 George HTN 60 Irene A&W 58 Jean ↑ Chol d. 57 Ovarian Ca Dx 56 Diabetes 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W

  24. d. 70’s Breast Ca Dx 69 90’s A&W 76 d. MI Breast Ca Dx 72 Legend Breast Ovarian 63 George HTN 60 Irene A&W 58 Jean ↑ Chol Ovarian Ca Dx 56 Diabetes 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W A&W Bilateral Breast Ca Dx 45 Dx ? Family history

  25. Legend Breast Ovarian Family history assessment

  26. Autosomal Dominant Inheritance Legend B:BRCA gene with mutation b: normal BRCA gene Unaffected Breast Cancer bb Bb bb Bb Bb bb Affected with breast cancer Population Risk Susceptible BRCA gene Population Risk

  27. Consequences of having a BRCA mutation

  28. d. 70’s Breast Ca Dx 69 90’s A&W 76 d. MI Breast Ca Dx 72 Legend Breast Ovarian 63 George HTN 60 Irene A&W 58 Jean ↑ Chol Ovarian Ca Dx 56 Diabetes 32 David A&W 35 PATIENT A&W 30 30 Michael Jason A&W A&W A&W Bilateral Breast Ca Dx 45 Dx ? Family history

  29. Possible Genetic Testing Results

  30. Possible Genetic Testing Results

  31. Possible Genetic Testing Results

  32. Possible Genetic Testing Results

  33. What are the benefits/ harms of genetic testing for hereditary breast/ovarian cancer?

  34. BENEFITS - Mutation Present • Disease Causing Mutation Present • Gene mutation predicted to cause or increase risk for disease • Clinical Benefit • Clear basis for existing clinical interventions that improve outcome • “OK, so I have the gene, what should I do to protect myself and stay healthy?”

  35. BENEFITS - Mutation Absent • Clear Negative Genetic Test Result • Absence of a known gene mutation previously identified in the family • Emotional Benefit • Relief from worry about disease risk • “Thank goodness I don’t have it!”

  36. Benefits

  37. HARMS – Mutation Present • Disease Causing Mutation Present Socio-legal Harms • Insurance premiums may be increased • Other Harms Fear! • Patient may become fatalistic towards health • Other family members may become distressed on patient’s or their own behalf

  38. HARMS – Mutation Present • Variant of Unknown Significance • Emotional harm Uncertainty • What does the mutation really mean? How to handle it? • Remember they are still at high risk on the basis of their family history, so the clinical interventions apply and may carry their own risks

  39. HARMS – Mutation Absent • Clear Negative gene test result • Emotional harm Survivor Guilt • Cannot identify with the disease group • No excuse for life problems

  40. HARMS - Mutation Absent • Uninformative Test Result • Health Behaviour Harm • Complacency • Fatalism towards health • Still need to follow clinical recommendations as family history risk still present

  41. Harms

  42. Surgical options - Bilateral risk-reducing mastectomy - Bilateral risk-reducing oophorectomy -90% risk reduction in high-risk women - hazard ratio for br ca = 0.47 - hazard ratio for ovarian ca = 0.04 Chemoprevention • Tamoxifen • raloxifene, aromatase inhibitors - shows promise in BRCA2 carriers - under study What can be done for BRCA Mutation Carriers to reduce the risk of breast/ovarian cancer?

  43. Genetics clinical pathway • Pattern – is it genetic? • Known gene mutation(s) for disorder? • Evidence for gene mutation = disorder? • What proportion of people with the disorder have the gene mutation? • Can we change disease incidence? • Can we change disease outcome?

  44. Genetic Clinic Resources • Talk to your local genetics clinic • Check whether referral appropriate • Update on new genetic tests or advancements • Contact information in package

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