Genetic Testing
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
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
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
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
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
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
Legal/Compliance
Genetic update
Use 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 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)
Regulating the Use of Genetic
Information
Federal Law
Statute: GINA (Genetic Information NonDiscrimination 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
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
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
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
Use of Genetic Information at
State Level
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
1. No guidance
2. Liberal: Permitted
3. Moderate: Permitted, with restrictions
4. Restrictive: Prohibited
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
Maine
Application to Test Case
In-between
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 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
Massachusetts
Application to Test Case
Restrictive
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
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
Product
Group to develop question
U/W guideline for Huntington’s
disease
Claims
Rescind?