Updates on Genetic Testing and Screening During COVID19

Updates on Genetic Testing and Screening During COVID-19 Jill Stopfer MS, LGC Associate Director, Genetic Counseling *** CONFIDENTIAL – FOR INTERNAL USE ONLY ***

We are Jewish We are BRCA+ We are 1: 40 What we all need to know about BRCA gene mutation risk.

Updates on Genetic Testing and Screening During COVID-19 § Genetics 101 § What is hereditary cancer risk and when do we suspect it? § The link between the BRCA genes and Jewish ancestry § Clinical significance of having a mutation in a BRCA gene § Testing and screening in times of COVID-19

Chromosomes, DNA, and Genes Gene Cell Nucleus Chromosomes Protein

An error in the genetic code is a “mutation” T H E A T E R T H X Q T E R

Founder BRCA 1 and BRCA 2 Mutations in the Ashkenazi Jewish Population BRCA 1 187 del. AG Prevalence = ~1% 5385 ins. C Prevalence = ~0. 15% BRCA 2 6174 del. T Prevalence = ~1. 5% Even in the setting of a known mutation test for all three founder mutations at a minimum!

How Much Cancer is Due to Strong Hereditary Risk? 10 %

Hereditary Cancer “Clues” • More cancer than expected in family • Multiple generations of cancer • Younger ages of diagnosis • Rare types of cancer • Ovarian cancer • Pancreatic cancer • Metastatic prostate cancer • Male breast cancer • Person with more than one cancer • Cancers that can be seen together (such as breast and ovarian) • Ashkenazi Jewish Ancestry – Jews of Eastern European descent

BFOR (BRCA Founder Outreach Registry) Study • Population-based testing for founder mutations in individuals of Ashkenazi Jewish ancestry (1: 40 v 1: 400) • 4500 participants - Enrollment completed • DFCI with BIDMC, MSKCC (NY), UPenn (Phila), Cedars Sinai (LA) • Involvement of Primary Care Physicians • Testing for three common (founder) mutations in BRCA 1 and BRCA 2 only • Accounts for 90% of detectable mutations in BRCA 1 and BRCA 2 • Those with significant family history offered more comprehensive testing

BRCA 1 and BRCA 2 -Associated Cancers: Lifetime Risks BRCA 1 BRCA 2 Average Risk Female Breast CA 50 -80% 12 -13% Second Primary Breast CA 50% 1% per year Ovarian CA 30 -45% 10 -20% 1 -2% Melanoma 1% 3 -5% 1% Pancreas CA 2 -3% 3 -5% 1% Male Breast CA 1 -5% 5 -10% . 001% Prostate CA 16% 15 -25% 16%

Risk Management for those with BRCA Mutations Surveillance § Breast MRI beginning at age 25 § Mammogram beginning at age 30 § Clinical Breast Exams § Men: PSA + DRE beginning at age 40 § Certain Families: Investigational pancreatic imaging: EUS and MRCP Preventive Surgery § 90% Bilateral mastectomy § ~90% Removal ovaries & fallopian tubes Chemoprevention § Tamoxifen, Raloxifene, Exemestane. . . § Birth Control Pills

11. 8% of men were mutation positive 84/692

SPAN Study Matt Yurgelun, MD

Medical Care during COVID-19 § Minimize need for in person encounters § Rapid adoption of telemedicine / videoconferencing – now covered by insurance § All major Boston Medical Centers § No visitors for oncology patients at Dana-Farber § Deferral of routine screening § Screening at BWH to being June 1 § Others to follow – check with local providers § Prioritization of those at high risk § Deferral of elective surgery – coming back § Do not delay reporting a symptom – services still available! § Check with your local providers for personalized advice

How to Find a Genetic Counselor • National Society of Genetic Counselors • www. NSGC. org • Find a genetic counselor search tool • Ask your physician or nurse • Online companies: • Invitae Genetics • Color Genomics • Informed DNA – telephone GC

Remotely arranged genetic testing

Inherited Genetic Conditions Associated with High Cancer Risks Cancer type Average Risk HOXB 13 Prostate 16% 60 -90% Colon 5 -6% Breast 12 -13% Lynch Syndrome BRCA 1 BRCA 2 increased 20 -55% 50 -80%

• • Why Population Screening? Reduce cancer diagnoses – interventions can be lifesaving Gives families agency Makes economic sense – just one AJ grandparent • Genetic testing can be focused (Founder Mutations) or broad (Multi-Gene Panel Testing) Results are relevant for you and your family members over a lifetime •

Thank you! QUESTIONS?