Genetic Testing
description
Transcript of Genetic Testing
Genetic Testing
Agenda
Bring Awareness Case StudyGenetics –Family History definedACLI/GINA UpdateLegal/Compliance –where are we?Adding question to the LTCi applicationDeveloping guidelines3 bucket category
Case
40 year old femaleFamily hx Huntington’s DiseaseAPS indicates testing done (+ result)Application does not ask about FHGuidelines do not existContract state is MDPan Design
Genetics 101
Family HistoryConcept of increased risk: well understood/accepted
Heart diseaseCancerCholesterolDiabetesBreast cancer
Multiple genes likely play a roleEnvironment may affect the risk of disease
– Obesity– Smoking
Genetic Disease 101 (cont’d)
Single Gene DiseaseAutosomal Dominant
Huntington’s choreaAdult polycystic kidney diseaseHypertrophic cardiomyopathyInherited breast cancerLeiden Factor V deficiencyMarfan’sInherited colon cancer (HNPCC)
Autosomal RecessiveHemochromatosisCystic fibrosis
Autosomal Dominant Diseases50/50 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
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 musclesProgressive dementiaPsychiatric and behavioral disturbances (can be initial manifestation)
Lack of motivationAggressionDepression
Legal/Compliance
Genetic updateUse of genetic information
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 diseaseJohn 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)
Regulating the Use of Genetic Information
Federal LawStatute: GINA (Genetic Information Non-Discrimination Act)Regulations promulgated by:
Health and Human ServicesDepartment of LaborDepartment of Treasury
State LawState statutes and regulations vary and can be stricter than federal law
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
GINAGenetic 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
Status of GINA
Statute was passed in 2008Proposed rule revising HIPAA was promulgated in 2009The 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 CarriersMust protect individually identifiable genetic information along with other PHINo effect on use of genetic information in LTC underwriting
Use of Genetic Information at State Level
State Law Impact on Use of Genetic Information
Federal law provides a floor, not a ceiling50 states = possibility for 50 state laws4 General Categories of State Law on the Use of Genetic Information in Underwriting
1. No guidance2. Liberal: Permitted3. Moderate: Permitted, with restrictions4. Restrictive: Prohibited
Maine
Insurer may use genetic test results in issuing, withholding, extension or renewal of policyInsurer 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 experienceGenetic 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
Liberal
MaineApplication to Test Case
Massachusetts
Insurer may not require 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 experienceGenetic Information: a written recorded individually identifiable result of a genetic test or explanation of such a result
Massachusetts General Laws Annotated, 175 § 108I
In-between
MassachusettsApplication to Test Case
Maryland
Insurer may not request or require 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
Restrictive
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 membersInformation 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 individualGenetic 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
Product
Group to develop questionU/W guideline for Huntington’s disease
Claims
Rescind?