1. The Harvard Health Caucus Genetic 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 HMOPPO POSIndemnity Group Type & SizePremium (Employer/Employee) * Coverage Policy Development “Universal Truths”Scientific Literature Professional CollegesIndividual * BRCA Coverage Policy ACMG GuidelinesGenetic Counseling Genetics “Model”Privacy

3. Genetics & Insurance: Product Options HMO* s HMO* s POS* s PPO s Indemnity (* IPA/PMG/IDS) s (* IPA/PMG/IDS) 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

4. Genetics & Insurance: Product Designs HMO s HMO s POS s PPO s Indemnity 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)

5. Genetics & Insurance: Premiums Premium Pays: s Premium Pays: DoctorHospital PharmacyDME Home CareAdmin s Premium Paid by: Employer EmployeeCo-pay Deductible Monthly Debit % of Services s For Non-Covered Services, Patient pays 100%

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

7. Genetics & Insurance: Coverage Policy * 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 Philosophy

8. Genetics & Insurance: Coverage Policy II * 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) Internal Process a

9. Genetics & Insurance: Coverage Policy III * 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 Medical Genetics

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

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 DiseaseHemoglobinopathies Cystic FibrosisMultiple Marker Screening * The Human Genome Project: BRCA (Hereditary Breast/Ovarian Cancer) Colon CancerHemochromatosis ?

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

13. Genetics & Insurance: ACMG Guidelines Three or more affected 1 st or 2 nd 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, andNecessary to provide accurate risk assessment for at-risk Aetna patients, and Not covered under proband’s insuranceNot covered under proband’s insurance a

16. Genetics & Insurance: Web Resources * CPB #140Genetic Testing * CPB #189Genetic Counseling * CPB #227Breast 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 Caucus Genetic 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