1. 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 #DP , funded by the Centers for Disease Control and Prevention

2. 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.

3. 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

4. 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

5. 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.

6. 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).

7. 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

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

10. 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

11. 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.”

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

13. 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

14. 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

15. 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

16. 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

17. Evidence-based HBOC recommendations guiding care
BRCA-related breast and/or ovarian cancer syndrome BRCA mutation positive management

18. 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

19. 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

20. 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

21. 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

22. Cases

23. 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

24. 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

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