The Harvard Health Caucus Genetic Privacy: Legal & Ethical Frameworks

1. The Harvard Health CaucusGenetic Privacy:Legal & Ethical Frameworks Allan T. Bombard, MD, FACOG, FACS, FACMG Medical Director, Aetna Women’s Health Program Pacific & West Central Regions (925) 543-9720

2. Genetics from the Insurance Perspective * Product Array & Designs HMO PPO POS Indemnity Group Type & Size Premium (Employer/Employee) * Coverage Policy Development “Universal Truths” Scientific Literature Professional Colleges Individual * BRCA Coverage Policy ACMG Guidelines Genetic Counseling Genetics “Model” Privacy

3. Genetics & Insurance: Product Options In-Network Only Few Out-of-Pocket Costs HMO with OON Option Moderate Patient Costs Open Network Large Patient Costs (In vs. OON) Any doctor Huge Patient Costs • HMO* • POS* • PPO • Indemnity • (* IPA/PMG/IDS)

4. Genetics & Insurance: Product Designs Insured vs. Self-Funded Pre-authorization Requirements “Gatekeeper” vs. Direct Access Extent of Preventive Care Benefit? 1st $ coverage by patient (annual deductibles) Few screening tests covered under Medicare; Limited preventive care coverage (Pt has 1st $ coverage) • HMO • POS • PPO • Indemnity

5. Genetics & Insurance: Premiums • Premium Pays: Doctor Hospital Pharmacy DME Home Care Admin • Premium Paid by: Employer Employee Co-pay Deductible Monthly Debit % of Services • For Non-Covered Services, Patient pays 100%

6. Medical Management Paradigm IDENTIFICATION INTERVENTION IMPACT • Identify Patient • Case • Quality of Care Population Management • Quality of Service • Access/Referral • Establish Severity Levels • Cost of Care • Education Severe Moderate Mild • Undiagnosed/ At Risk

7. Genetics & Insurance: Coverage Policy Philosophy * Care or Treatment likely to improve outcomes * Services related to diagnosis of an illness * Information that affects course of treatment * Care, Services, Treatments for Insureds * Guidelines by Professional Organizations, nationally accepted government agencies, and/or peer-reviewed medical literature

8. Genetics & Insurance: Coverage Policy II Internal Process * Decision to evaluate a technology * Requests for evaluation at all medical levels * Comprehensive literature search & review * Consultations for expert medical opinion * Circulation of drafts for review * Integration into coverage policies (CPB) a

9. Genetics & Insurance: Coverage Policy III Medical Genetics * Peer-reviewed medical literature & texts * National Professional Organizations ACMG: American College of Medical Genetics ACOG: American College of Obstetricians & Gynecologists ASCO: American Society of Clinical Oncology * Governmental agencies: Medicare

10. Implementing Clinical Guidelines at Aetna Nationally Accepted Professional Sources Network Expert Review Participant Provider Review (QAC) Guideline Dissemination

11. Genetics & Insurance: Medical Genetics * Genetics Coverage is Not New! Rhesus and ABO Blood Typing HLA Analysis (Immunology, Transplant) * Common Screening Tests in Pregnancy: Tay-Sachs Disease Hemoglobinopathies Cystic Fibrosis Multiple Marker Screening * The Human Genome Project: BRCA (Hereditary Breast/Ovarian Cancer) Colon Cancer Hemochromatosis ?

12. Genetics & Insurance: BRCA * Risk assessment using published algorithms * High-risk family status: 3-generation pedigree * BRCA analysis covered when: • Meets ACMG Guidelines • Information used to improve the medical care of the patient a

13. Genetics & Insurance: ACMG Guidelines Three or more affected 1st or 2nd degree relatives on same side of the family, irrespective of age at diagnosis of breast or ovarian cancer; or There are fewer than affected relatives, but 1. There are multiple primary or bilateral cancers in the patient or one family member; or 2. A family member has been identified with a detectable mutation; or 3. There are one or more cases of ovarian cancer at any age, and one or more members on the same side of the family with breast cancer at any age; or

14. Genetics & Insurance: ACMG Guidelines There are fewer than affected relatives, but (cont’d) 4.There is breast cancer in a male patient, or in a male relative; or 5. The patient is at increased risk for specific mutation(s) due to ethnic background (for instance: Ashkenazi Jewish descent), and has one or more relatives with breast cancer or ovarian cancer at any age; or 6. The patient was diagnosed with breast cancer at 45 years of age or less.

15. Genetics & Insurance: BRCA -II * Genetics is Family-Based Medicine! * Proband BRCA sequencing of non-Aetna patients covered when • Necessary to provide accurate risk assessment for at-risk Aetna patients, and • Not covered under proband’s insurance a

16. Genetics & Insurance: Web Resources * CPB #140 Genetic Testing * CPB #189 Genetic Counseling * CPB #227 Breast and Ovarian Cancer, Management of Women at Risk (BRCA Testing, Prophylactic Surgery, Tamoxifen) (* CPB: Coverage Policy Bulletin) (http://www.aetnaushc.com/cpb/cpb_alpha.html) a

17. The Harvard Health CaucusGenetic Privacy:Legal & Ethical Frameworks Allan T. Bombard, MD, FACOG, FACS, FACMG Medical Director, Aetna Women’s Health Program Pacific & West Central Regions 2409 Camino Ramon; Mail Stop F941 San Ramon, CA 94583 (925) 543-9720