Genetic Testing

1. Genetic Testing

2. Agenda • Bring Awareness • Case Study • Genetics –Family History defined • ACLI/GINA Update • Legal/Compliance –where are we? • Adding question to the LTCi application • Developing guidelines • 3 bucket category

3. Case • 40 year old female • Family hx Huntington’s Disease • APS indicates testing done (+ result) • Application does not ask about FH • Guidelines do not exist • Contract state is MD • Pan Design

4. Genetics 101 • Family History • Concept of increased risk: well understood/accepted • Heart disease • Cancer • Cholesterol • Diabetes • Breast cancer • Multiple genes likely play a role • Environment may affect the risk of disease • Obesity • Smoking

5. Genetic Disease 101 (cont’d) • Single Gene Disease • Autosomal Dominant • Huntington’s chorea • Adult polycystic kidney disease • Hypertrophic cardiomyopathy • Inherited breast cancer • Leiden Factor V deficiency • Marfan’s • Inherited colon cancer (HNPCC) • Autosomal Recessive • Hemochromatosis • Cystic fibrosis

6. Autosomal Dominant Diseases • 50/50 chance of inheritance of gene if parent has the gene/disease • Huntington’s: • 100% chance individual will get the disease. • Appears at older age than application age • No early diagnostic test other than genetic marker • Apoe4 associated Alzheimer's • 45-60% risk of developing the disease • No early diagnostic test other than genetic marker • APKD • Variable risk of clinical course • Diagnostic studies can detect disease early • Inherited breast cancer • ~50% chance of manifesting disease

7. Huntington’s Chorea • Symptoms usually begin between age 30 -50 (can begin up to age 70-80) • Progressive deteriorating course over 15-20 years • Symptoms: • Movement disorder – undulating motion of the limbs and then other muscles • Progressive dementia • Psychiatric and behavioral disturbances (can be initial manifestation) • Lack of motivation • Aggression • Depression

8. Legal/Compliance • Genetic update • Use of genetic information

9. In other words, Genetic Information May Include the Following • John Doe has over 40 CAG repeats in the HTT gene • John Doe’s sister has over 40 CAG repeats in the HTT gene • John Doe’s mother has Huntington’s disease • John Doe was tested for the genetic mutation associated with Huntington’s disease (whether or not results are known) • John Doe or his sister participated in clinical research that includes genetic services • John Doe’s wife is pregnant, and the fetus was tested for an expanded HTT gene (whether or not the results are known)

10. Regulating the Use of Genetic Information • Federal Law • Statute: GINA (Genetic Information Non-Discrimination Act) • Regulations promulgated by: • Health and Human Services • Department of Labor • Department of Treasury • State Law • State statutes and regulations vary and can be stricter than federal law

11. HIPAA Privacy Rule • LTC carriers are “covered entities” • Covered entities must protect PHI (Protected Health Information) • "individually identifiable health information" held or transmitted by a covered entity or its business associate • Health information arguably includes genetic information, but it is not specified in the definition 45 CFR Part 160

12. GINA • Genetic Information Nondiscrimination Act (2008) requires certain revisions to HIPAA • (Applies to LTC) Revise definition of “health information” to clarify that genetic information is health information • Recall that "individually identifiable health information" is PHI • (Does not Apply to LTC) Prohibit the use and disclosure of genetic information by “covered health plans” for underwriting. Covered health plans may not use genetic information for: • eligibility determinations, • premium computations, • applications of any pre-existing condition exclusions Pub. L. 110-233, 122 Stat. 881, enacted May 21, 2008

13. Status of GINA • Statute was passed in 2008 • Proposed rule revising HIPAA was promulgated in 2009 • The Final rule, i.e. the “mega rule” is expected in June 2012 • The so-called “Mega Rule” actually contains four rules; the 4th rule revises HIPAA as required by GINA • Expected effect on LTC Carriers • Must protect individually identifiable genetic information along with other PHI • No effect on use of genetic information in LTC underwriting

14. Use of Genetic Information at State Level

15. State Law Impact on Use of Genetic Information • Federal law provides a floor, not a ceiling • 50 states = possibility for 50 state laws • 4 General Categories of State Law on the Use of Genetic Information in Underwriting • No guidance • Liberal: Permitted • Moderate: Permitted, with restrictions • Restrictive: Prohibited

16. Liberal Maine • Insurer may use genetic test results in issuing, withholding, extension or renewal of policy • Insurer may require genetic testing • Insurer must comply with certain requirement, such as obtaining authorization • In using genetic information, insurer may not unfairly discriminate based on genetic information or the results of a genetic test • Unfair discrimination: applying test results or genetic information in a manner not reasonably related to anticipated claims experience • Genetic information: information concerning genes, gene products or inherited characteristics that may be obtained from an individual or family member 24-A M.R.S.A. § 2159-C

17. MaineApplication to Test Case

18. In-between Massachusetts • Insurer may notrequire a genetic test to issue or renew policy • Insurer may ask on application whether the applicant has taken a genetic test • Applicant not required to answer the question. • Insurer may use genetic information submitted by applicant • Insurer may not unfairly discriminate based on the results of a genetic test or the provisions of genetic information • Unfair discrimination: Using information that is unreliable or not reasonably related to insured's mortality or morbidity, based on sound actuarial principles, or actual or reasonably anticipated experience • Genetic Information: a written recorded individually identifiable result of a genetic test or explanation of such a result Massachusetts General Laws Annotated, 175 § 108I

19. MassachusettsApplication to Test Case

20. Restrictive Maryland • Insurer may not request orrequire genetic test, the results of a genetic test, or genetic information to deny coverage or raise premium • Insurer may not use a genetic test, the results of a genetic test, genetic information, or a request for genetic services to deny coverage or raise premium • Genetic information: includes information “about chromosomes, genes, gene products, or inherited characteristics that may derive from an individual or a family member” MD Code, Insurance, § 18-120

21. What exactly is Genetic Information?The definition of Genetic Information varies by jurisdiction and by law Genetic information may include the following: • Information about an individual’s genetic tests • Information of genetic tests of an individual’s family members • Information about the manifestation of a disease or disorder in an individual’s family members (i.e. family medical history) • An individual's request for, or receipt of, genetic services • The participation in clinical research that includes genetic services by the individual or a family member of the individual • Genetic information of a fetus carried by an individual or by a pregnant woman who is a family member of the individual • Genetic information of any embryo legally held by the individual or family member using an assisted reproductive technology

22. Product • Group to develop question • U/W guideline for Huntington’s disease

23. Claims • Rescind?