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Updates in cancer genetic testing
Thank you for the presentation on genetic counseling and cancer genetics. I appreciate you sharing your expertise on this important topic.
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Updates in cancer genetic testing
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- 2. I haveno financial relationships or conflicts of interest to disclose in relation to this presentation
- 3. Review ofgenetic counseling and cancer genetics How common is inherited cancer? Red flags in a family history that should prompt a genetics evaluation Overview of hereditary breast and ovarian cancer (HBOC) and Lynch syndrome Update in genetic testing: panel tests
- 4. Assess personaland family history of cancer ◦ Is genetic testing appropriate in the family? ◦ Identify the most informative family member to test ◦ Determine and order the most appropriate genetic test(s) Provide patient-oriented education about hereditary cancer syndromes and genetic testing Interpret genetic test results, help patients and their physicians understand and apply genetic test results to medical management decisions, and assist with patient’s psychosocial adjustment Connect patients to supportive, informative and research- related resources
- 6. Cancers diagnosedyounger than average ◦ Breast cancer <50 yo ◦ Colon cancer <50 yo Multiple family members with similar or related cancers ◦ Breast and ovarian ◦ Colon and uterine ◦ Melanoma and pancreatic Rare cancers ◦ Male breast cancer ◦ Ovarian cancer ◦ Triple negative breast cancer (<60 yo) People diagnosed with cancer more than once Multiple generations affected by related cancers AJ ancestry + breast and/or ovarian cancer
- 7. Hereditary breastand ovarian cancer (HBOC) Lynch syndrome
- 8. Genes: BRCA1,BRCA2 Most significant cancer risk: breast, ovarian Management: ◦ Females: high risk breast cancer screening OR mastectomy, BSO ◦ Males: PSA, breast awareness, consideration of mammograms
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- 10. Recommendations: ◦ Bilateralmastectomy or high risk surveillance following breast cancer tx ◦ BSO ◦ Genetic testing for family members
- 11. Breast cancer Gynecological cancer Cancer, unknownAlso carries the BRCA1 mutation
- 12. Genes: MLH1,MLH2, MSH6, PMS2, EPCAM Most significant cancer risk: colon, uterine Management: Colonoscopy every 1-2 years, consideration of hysterectomy and BSO (females)
- 13. 1994-1995 Myriad patent on BRCA1& BRCA2 2012 Ambry offers NGS, Without BRCA 2013 Supreme Court rules human genes cannot be patented TODAY Many new labs and panels! Which genetic testing lab? Most appropriate test?
- 14. There aremore than 50 well described cancer susceptibility syndromes, many of which can result from mutations in more than one gene
- 16. Benefits Limitations Manygenes analyzed ◦ Higher mutation detection rate Often same cost as single gene tests ◦ Generally cheaper than multiple single gene tests One blood/saliva sample Unknown results Genes without management guidelines
- 17. Benefits Limitations Manygenes analyzed ◦ Higher mutation detection rate Often same cost as single gene tests ◦ Generally cheaper than multiple single gene tests One blood/saliva sample Unknown results Genes without management guidelines
- 18. Breast cancer Intestinal adenocarcinoma Thyroid cancer Uterinecancer Pancreatic cancer Lung cancer
- 20. Studies suggest2-4 fold increased risk of breast cancer in female carriers Possible increased risks of pancreatic cancer Individuals with two ATM mutation have Ataxia Telangiectasia (AT) ◦ Severe childhood onset condition involving progressive ataxia often beginning at age 5yo or earlier, telangiectasia of the conjunctivae, immunodeficiency ◦ Cancer risks: leukemia, lymphoma ◦ Increased sensitivity to radiation
- 21. Recommendations: ◦ Highrisk breast cancer surveillance ◦ Genetic testing for family members NOT a carrier of the ATM mutation Presumably ATM mutation carrier
- 22. Benefits Limitations Manygenes analyzed ◦ Higher mutation detection rate Often same cost as single gene tests ◦ Generally cheaper than multiple single gene tests One blood/saliva sample Unknown results Genes without management guidelines Important to assess personal and family history to determine: Is a panel appropriate? Which genes?
- 23. 68y female recentlydiagnosed with breast cancer
- 24. 68y female recentlydiagnosed with breast cancer. Family history significant for early breast cancer, early colon cancer, and bile duct and intestinal cancer.
- 25. Benefits Limitations Manygenes analyzed ◦ Higher mutation detection rate Often same cost as single gene tests ◦ Generally cheaper than multiple single gene tests One blood/saliva sample Unknown results Genes without management guidelines
- 27. Breast cancerscreening ◦ Oncology care team recommendations Colon cancer screening ◦ Close blood relatives begin colon screening 5-10 years younger than earliest colon cancer diagnosis ◦ Continuation of colonoscopies at the intervals recommended by gastroenterologist aware of personal and family history
- 28. Not alllaboratories’ panels are created equal ◦ # of genes ◦ Sensitivity ◦ Portion of gene analyzed and how thorough ◦ Technology used for mutation confirmation ◦ Prices, billing policies, turnaround time, reporting ◦ VUS rates among labs ◦ Protocols for VUS reporting and reclassification
- 29. Not alllaboratories’ panels are created equal ◦ # of genes ◦ Sensitivity ◦ Portion of gene analyzed and how thorough ◦ Technology used for mutation confirmation ◦ Prices, billing policies, turnaround time, reporting ◦ VUS rates among labs ◦ Protocols for VUS reporting and reclassification
- 30. Not alllaboratories’ panels are created equal ◦ # of genes ◦ Sensitivity ◦ Portion of gene analyzed and how thorough ◦ Technology used for mutation confirmation ◦ Prices, billing policies, turnaround time, reporting ◦ VUS rates among labs ◦ Protocols for VUS reporting and reclassification
- 31. Comprehensive cancerrisk assessment Personalized screening and management recommendations Most appropriate and cost effective genetic testing Supportive resources for your patients Saves you time!
- 33. http://www.cancer.gov/about-cancer/causes- prevention/genetics/brca-fact-sheet http://www.cancer.gov/types/colorectal/hp/colo rectal-genetics-pdq#section/all http://www.nccn.org/professionals/physician_gl s/pdf/genetics_screening.pdf http://www.nccn.org/professionals/physician_gl s/pdf/genetics_colon.pdf Cancer Risks and Mortality in Heterozygous ATM Mutation Carriers http://jnci.oxfordjournals. org/content/97/11/813.short http://www.mills- peninsula.org/cancer/services/genetic- counseling.html