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Understanding Genetic Counseling
The document discusses genetic counseling related to breast and ovarian cancer, outlining its goals, processes, and the importance of understanding genetic contributions to these diseases. It emphasizes the need for genetic testing, risk assessment, and the support available for individuals with familial histories of cancer. Additionally, it provides information on how to find a genetic counselor and the different genetic syndromes linked to breast and ovarian cancer.
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Understanding Genetic Counseling
- 1. Understanding Genetic Counseling: Breastand Ovarian Cancer Rania Sheikh, MS, CGC Genetic Counselor
- 2. Today’s Talk • Whatis genetic counseling? • What are the goals? • Who needs a GC and what is the process like? • Hereditary cancers • How are genetic testing results used? • How to find a genetic counselor? • Time for questions
- 3. Genetic Counseling Process ofhelping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. National Society of Genetic Counselors (NSGC) • Founded in 1979 • Prenatal, Cancer, Cardiovascular, Neurology
- 4. Goals of GeneticCounseling • Explanation for personal and family history • Early detection and risk-reduction • Treatment Decisions • Family planning • Provide support networks • Opportunity to participate in research
- 5. Who is referredto Genetics? • Diverse group of referrals: – Patients in active treatment at MSKCC – Patients diagnosed in the past – Individuals without a personal history of cancer • Indications that lead to a genetics referral: – Diagnosis at young age – Multiple diagnoses in single individual – Multiple relatives affected with related cancers – Ancestry – Pathology report (triple negative) *Affected individual is usually the first person in the family to be evaluated*
- 6. Family History Personal History Genetic Testing& Results Risk Assessment Genetic Counseling Process • Education • Psychosocial implications • Informed Consent • Management • Treatment • Risk reduction Exposure History High Medium Low
- 7. How Common areBreast and Ovarian Cancer? 1.3%12% *General population risks OvaryBreast
- 8. How common areHereditary breast and Ovarian cancer? 15% 5-10% Sporadic Familial Hereditary 20% Breast Ovary
- 9. Syndromes often consideredFor Hereditary Breast Cancer • Hereditary Breast and Ovarian Cancer syndrome (BRCA1 & BRCA2) • Hereditary Diffuse Gastric Cancer (CDH1) • Li-Fraumeni syndrome (TP53) • Cowden syndrome (PTEN) • Moderate risk genes (CHEK2, PALB2, ATM)
- 10. Syndromes often consideredFor Hereditary Ovarian Cancer • Hereditary Breast and Ovarian Cancer syndrome (BRCA1 & BRCA2) • Lynch Syndrome(MLH1, MSH2, MSH6, PMS2, and EPCAM) • Moderate risk genes (BRIP1, RAD51C, RAD51D, PALb2, ATM)
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- 13. • BRCA1 andBRCA2 genes • Breast, ovary, prostate, pancreas cancers • Founder mutations in Ashkenazi population Hereditary Breast and Ovarian Cancer Syndrome
- 14. ……………………………………… 185delAG 5382insC 6174delT BRCA1 BRCA2 ……………………………………………………………….. Chr 17 Chr13 Prevalence in AJ = ~1 in 40 BRCA1 and BRCA2
- 15. How Genetic Testing ResultsCan Be Used?
- 16. • Lumpectomy vsmastectomy (Breast) • Targeted therapy (Breast & Ovary) Impact on Treatment
- 17. Risk Management • Screeninginterval – Earlier age – Increased frequency • Additional areas of the body at risk • Preventative surgeries – Risk-reducing mastectomies – Oophorectomy • Information for physicians
- 18. Family Planning: Pre-implantationGenetic Diagnosis (PGD) • Able to make informed childbearing decision • In-vitro Fertilization (IVF) • Testing of single cell from day-3 embryo • Only embryos without mutation are used for implantation
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- 20. Some Factors ThatInfluence Risk Perception
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- 22. Future Directions • Populationscreening – BRCA in Ashkenazi Jewish population (BFOR Study at bforstudy.com) • Personalized Medicine – Refine risks based on an individual’s genetic information • Treatment – PARPi – Immunotherapy
- 23. Find a GeneticCounselor Closer To Home • www.nsgc.org/findageneticcounselor
- 24. MSKCC Clinical GeneticsService • Call to request appointment: 646-888-4050 • 222 East 70th Street • Additional sites: – BAIC/66th Street – 53rd Street:GI and GYN – Basking Ridge – Commack – West Harrison – Monmouth – Bergen
- 25. Clinical Genetics Team KimberlyAmoroso MS, CGC Angela Arnold MS, LCGC Kelsey Breen MS, MSc, CGC Amanda Catchings MS, CGC Megan Harlan Fleischut MS, CGC Jennifer Kennedy MS, CGC Vanessa Marcell MS, LCGC Kelly Morgan MS, CGC Erin Salo-Mullen MS, MPH, CGC Margaret Sheehan MS, CGC Rania Sheikh MS, CGC Beth Siegel MS, CGC Hetal Vig MS, CGC Temima Wildman MS, CGC Kenneth Offit, MD, MPH Mark Robson, MDZsofia Stadler, MD Michael Walsh, MD Karen Cadoo, MD Maria Carlo, MD Elise Fiala MS, CGC Alicia Latham, MD Megha Ranganathan MS, CGC Rosalba Sacca PhD, MS, CGC
- 26. Thank you! Questions? MSKCCClinicalGenetics Service 646-888-4050