Kristen Zarfos, MD Linda Steinmark, MS, LCGC Enhancing the Role of Primary Care in Hereditary Breast and Ovarian Cancer (HBOC) Syndrome Identification and Management Kristen Zarfos, MD Linda Steinmark, MS, LCGC This activity is supported by Cooperative Agreement #DP5355-03, funded by the Centers for Disease Control and Prevention

Mentoring Cancer Genomics in Primary Care (MCGPC) Project Overview Connecticut Department of Public Health Genomics Office (DPH-GO), with funding from the Centers for Disease Control, will advance cancer genomic best practices to ultimately reduce the burden of breast and ovarian cancer in Connecticut. As a consequence of these efforts, DPH expects to: Increase knowledge about breast cancer genomic best practices among primary care providers; Increase awareness of hereditary cancers and appropriate genetic services among the public and targeted subpopulations; and Increase awareness about the importance of family health history among the general public. In large part due to the high national breast cancer ranking we just noted, the Connecticut Department of Public Health was awarded CDC funding to work toward the objectives you see here. Efforts include the project that brings us here - specifically educating health care providers by placing cancer‐focused, board- certified genetic counselors in adult primary care practices. It will also educate the public about the importance of knowing their family history, with a special focus on the Ashkenazi Jewish population. The state will also enhance existing statewide surveillance systems, and do policy work that will focus on promoting health plan coverage of recommended clinical practices and hospital cancer program standards.

Why Focus on Primary Care Providers? Continuity of care Contact with patients over time; assess changes in family history Monitor appropriate screening Cascade screening starting with BRCA carriers in their practice; helping with advice about informing relatives of increased risk Discuss new testing techniques, changes in interpretation of variants of uncertain significance Update patients on preventive options available

Learning Objectives Overview of family history and red flags for HBOC Importance of genetic counseling and testing New developments in testing Evidence based HBOC recommendations guiding care

CDC Tier 1 Evidence Based Applications for Practice Hereditary Breast and Ovarian Cancer Syndrome (HBOC) The United States Preventive Services Task Force (USPSTF) recommends offering genetic counseling and consideration of genetic testing to women with a strong family history of breast/ovarian cancer. Lynch Syndrome The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) recommends genetic testing of all newly diagnosed colorectal cases to reduce morbidity & mortality in family members through testing, surveillance, etc.

HHS Healthy People 2020 A federal initiative that sets 10-year national goals and objectives for health promotion and disease prevention Genomics Goals: To increase healthcare provider’s awareness, knowledge, and adoption of evidence-based recommendations for hereditary cancers. G – 1 Increase the proportion of women with a family history of breast and/or ovarian cancer who receive genetic counseling. G – 2 Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes).

USPSTF: Family patterns associated with an increased risk of BRCA mutations Breast cancer diagnosis before age 50 years Bilateral breast cancer Family history of breast and ovarian cancer Presence of breast cancer in ≥1 male family member Multiple cases of breast cancer in the family ≥1 or more family members with 2 primary types of BRCA-related cancer Ashkenazi Jewish ethnicity

Family history concerning for HBOC Eastern European / Jewish Eastern European/ Jewish 35 37 28 60 58 Breast, dx 40 Ovarian, dx 52

Additional Considerations Personal history of breast cancer < 45yrs, < 50yrs with family history of breast/ovarian cancer Personal or family history of ovarian cancer Personal history of prostate cancer (Gleason score >7) and family history of breast cancer <50yrs, ovarian, prostate cancer (Gleason score >7) or pancreatic cancer Personal history of pancreatic cancer and family history of breast cancer <50yrs, ovarian, and/or pancreatic cancer Triple negative breast cancer diagnosed <60yrs Family history of other cancers in combination with breast cancer: Breast, uterine, thyroid, hamartomas Breast, soft tissue sarcoma, ACC, brain, leukemia Breast, diffuse gastric cancer

Affordable Care Act Mandates Coverage Q: Does the recommendation for genetic counseling and evaluation for routine breast cancer susceptibility gene (BRCA) testing include the BRCA test itself? A: Yes. HHS believes that the scope of the recommendation includes both genetic counseling and BRCA testing, if appropriate, for a woman as determined by her health care provider. PHS Act section 2713 addresses coverage for evidence-based items or services with a rating of “A” or “B” in the current recommendations of the USPSTF, as well as coverage for preventive care and screenings as provided for in comprehensive guidelines released by HRSA. The USPSTF recommends with a “B” rating that “women whose family history is associated with an increased risk for deleterious mutations in the BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing.”

www.hhs.gov/familyhistory www.nchpeg.org/hboc/red-flags-checklist

Genetic Counseling Patient's medical and family history Address concerns Discussion of appropriate testing Discussion of impact of results on healthcare, family Exploration of options for risk reduction Facilitate testing Interpretation of results in context of personal and family history

Informed consent process Benefits: Provides explanation for cancer in family Results may assist with medical management Provides information for family members Risks: Psychological impact Negative result could give false reassurance Insurance or employment discrimination: GINA Limitations: Negative result is most informative when familial mutation is known Testing may not be able to detect all genetic changes Variants of unknown significance

Role of the Genetic Counselor Psychosocial considerations Communicates and facilitates understanding of risk Awareness of medical/family history affecting perception of risk Provides psychosocial assessment and support for possible outcomes of testing Supports patient’s decision-making regarding testing Facilitates appropriate management of risk General, moderate, high Promotes understanding of VUS results Provides survivor/previvor support resources Promotes access to services Explores impact of enhanced monitoring and risk reducing strategies Supports family testing as appropriate, including supporting family communication about results

New developments in testing Many laboratories now offering genetic testing Multi-gene panels (next generation sequencing) More genes discovered related to cancer risk Variants of uncertain significance more common

Evidence-based HBOC recommendations guiding care https://www.nccn.org BRCA-related breast and/or ovarian cancer syndrome BRCA mutation positive management

Women – breast health: Young women: breast health awareness and clinical breast exam Age-appropriate breast screening Option of risk-reducing mastectomy (QOL issues) Consider risk-reducing medications

Women – ovarian health: Risk-reducing salpingo-oophorectomy Discovery of occult cancers Residual risk of primary peritoneal cancer Insufficient evidence to recommend ovarian cancer screening Screening may be appropriate for women not ready to consider surgery Chemoprevention with oral contraceptives Quality of life with RRSO

Reproductive concerns Men: Breast self-exam and clinical breast exam Early prostate cancer screening Men and women: Skin screening Research protocol eligibility pancreatic cancer Reproductive concerns

Guidelines are available for management for patients with LiFraumeni and Cowden syndromes Guidelines are available for Lynch Syndrome, CHEK2, NBN, NF1, PALB2, RAD51C, RAD51D, STK11 gene mutation carriers Recommendations may change as more is learned about these risks

Cases

Role of the PCP PCP plays a vital role in the genetic counseling referral process Identifies at-risk families Educates patients Makes the genetic counseling referral Makes appropriate referrals post-genetic counseling Coordinates care with specialists Provides long-term follow-up care, and reinforces patient compliance with recommendations

Role of the PCP When a gene mutation is identified, primary care providers can help families understand who is at risk discuss appropriate ways to approach and inform relatives develop a follow up plan for the family

Thank you! DPH.Genomics@ct.gov http://www.ct.gov/dph/genomics This activity is supported by Cooperative Agreement #DP5355-03, funded by the Centers for Disease Control and Prevention