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Genetics: For this Generation and the Next

Genetics: For this Generation and the Next. Andrea Forman, MS, LCGC Fox Chase Cancer Center Risk Assessment Program Department of Clinical Genetics. Common Diseases. Cancer Heart disease Diabetes Hypertension Stroke Alzheimer's Arthritis Osteoporosis. Common Risk Factors. Age

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Genetics: For this Generation and the Next

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  1. Genetics:For this Generation and the Next Andrea Forman, MS, LCGC Fox Chase Cancer Center Risk Assessment Program Department of Clinical Genetics

  2. Common Diseases • Cancer • Heart disease • Diabetes • Hypertension • Stroke • Alzheimer's • Arthritis • Osteoporosis

  3. Common Risk Factors • Age • Family history • Ethnicity • Lifestyle • Diet • Alcohol • Smoking

  4. Top 5 Reasons to Know Your Family History 5. Family recipes should be kept secret — family medical history should not. 4. Knowing your risk might save your life. 3. It’s free and you don’t have to leave home. 2. It’s a priceless gift to leave to your children. 1. Because every family has a story, but not every family has YOUR story. https://www.yahoo.com/health/10-reasons-you-should-dig-into-your-family-medical-118232923367.html

  5. Genetic information is key

  6. What is a Gene?

  7. DAD MOM

  8. Cancer and Genetics

  9. Fortune Cookie Tip #1 Family history was the first genetic test

  10. Clues:Genetic Risk for Cancer • YOUNG • Breast <45, Colon <50 • RARE • Examples include Ovarian, Male Breast, Pancreatic • MULTIPLE • Two or more different cancers in the same person • FAMILY • Two or more family members with the same or related types of cancer. • Breast/Ovary. Breast/Thyroid/Uterine. Breast/Sarcoma/Brain

  11. Sporadic Family History Colon, 72 Risk for cancer is AVERAGE

  12. Familial Family History Lung, 65 coal miner Stomach, 55 H. pylori Lung, 58 smoker Prostate, 75 Basal Cell sun exposure Liver, 50 alcohol abuse Cervix HPV, smoker Risk for cancer is MODERATE

  13. Hereditary Family History Breast, 55 Prostate, 59 Breast, 50 Breast, 34 Ovarian, 44 Risk for cancer is HIGH

  14. Fortune Cookie Tip #2 Don’t forget to look at both sides of the family!

  15. Why would I want to know? • Possible risk of another, new cancer • Risks to your children • Risks to other family members • Screening and prevention are often available and may save a life

  16. Family history of breast cancer? Who is the best person to test? New yellow apple Red apple tree growing red apples Red apple tree growing one yellow apple Courtesy of Kallie Weinan, MS, CGC

  17. Fortune Cookie Tip #3 When searching for something rare, start the search with the most likely target.

  18. Does not want testing BRCA1 - BRCA1 + BRCA1 + BRCA1 -

  19. Cancer Risks with HBOC

  20. What Can You Do? Increased screening Prevention Medication Tamoxifen (breast cancer risk) Birth control pills (ovarian cancer risk) Surgery Risk reducing mastectomy Salpingo-oophorectomy (removal of ovaries and fallopian tubes) • Start Earlier • 25yo for breast screening • More Often • Alternating imaging every 6 months • More Aggressive • Mammogram + Breast MRI

  21. Guess what?

  22. You won’t be seeing many tests for just BRCA1/2 anymore

  23. Multi-Gene (NGS) Panels • Genetic tests to look at dozens of genes related to cancer • Similar cost and turn around time as gene specific testing • Higher risk of uncertain results

  24. NGS Panels- Breast Walsh et. al. 2013 (ASHG Platform Presentation) • 800 families with negative BRCA1/2 testing • 206 tested positive with NGS BROCA panel (26%) • Of the 26% with a new positive results • 39% (80/206) had BRCA1/2 mutations • 37% carried mutations in CHEK2, PALB2, or TP53 • 20% carried mutations in 10 less characterized genes

  25. Ms. Smith • 46 year old woman with a newly diagnosed left breast cancer • ER/PR+ invasive ductal carcinoma • Referred to Risk Assessment as patient wants risk estimate to help her make a decision about bilateral mastectomy

  26. NGS Test Result Positive for a gene mutation • CHEK2 Variants of Uncertain Significance • BRCA 2 • STK11

  27. Fortune Cookie Tip #4 Sometimes, in our quest for answers, we end up with more questions

  28. Moderate Risk Genes • Cancer risks may not be very high • How high does risk need to be before we pursue surgery or medications? • Cancer risks may be unclear • How do we make medical decisions when we don’t know the risks? • We’re still learning • The recommendations you get today may be different in 5 years

  29. NGS Test Result Positive for a gene mutation • CHEK2 Variants of Uncertain Significance • BRCA 2 • STK11

  30. N=398

  31. Rates of Uncertain Variants Eggington et. al. Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM), March 2012, ACMG Poster Presentation.

  32. Isn’t it just a blood test? • Positive results with limited information • Inconclusive results • Results that don’t “fit” • Worry/anxiety

  33. Consider This… Unclear results Limited data Limited usefulness Changes in technology Anxiety/ distress Privacy Appropriate follow-up? Clarification of risk Guidance for medical management Information for family RISKS BENEFITS LIMITATIONS

  34. What can you do? • Know your family history • Educate your family about its history • Talk to your doctor or a genetic counselor

  35. What is a Genetic Counselor?

  36. I am a translator

  37. NSGC: www.nsgc.org

  38. Questions? Andrea Forman, MS, LCGC Genetic Counselor Department of Clinical Genetics, Fox Chase Cancer Center 1-877-627-9684 www.fccc.edu/rap rapinfo@fccc.edu

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