Ethical & Legal Issues in
Alzheimer’s Disease
Alzheimer’s Program 2010
National Press Foundation
Dan Vorhaus
December 7, 2010
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The Personal Genomics Landscape
Clinical
Application: clinical / patient care
Delivery: licensed healthcare
provider
Research
Application: improve genomic
understanding
Delivery: variable (researchers,
clinicians, direct or not at all)
Consumer
Application: informational,
educational (but not clinical)
Delivery: direct to individual
Unintended
Common Feature: unintended
exposure to genetic information
Clinical
Research
Consumer
Unintended
Your Doctor’s Office
Your Living Room
Your Own Research Project
And Countless Other Ways
• Donor identification
• Paternity testing
• Genetic genealogy
• Family planning
Genetic Testing for Alzheimer’s Disease
•
Two Types of Alzheimer’s Disease
 Early-Onset AD (also known as “Familial Alzheimer’s Disease” or FAD)
associated with mutations on chromosomes 21,14, 1. Autosomal dominant.
 Late-Onset AD predicted by APOE mutations (ε2 < ε3 < ε4). However, not
perfectly predictive. Other markers available.
•
Availability of Genetic Testing
 Clinical testing to confirm AD and, in some situations, to evaluate
cardiovascular disease (CVD) risk.
 Research settings (e.g., REVEAL study, PGP).
 Commercial settings (e.g., Smart Genomics, DTC sequencing).
 Unexpected in a variety of contexts (e.g., whole-genome sequencing).
•
Impact of Genetic Testing (specifically APOE status)
– A good direct predictor of nursing home admission and indirect predictor of
long-term care need/use.
– Alters individual long-term care insurance behavior (adverse selection).
The Personal Genomics Landscape & the Law
Blurring Boundaries, Rapid Change
Make This Inevitable….
Genetic
Information
Are DTC genomic products Consumer or
Clinical personal genomics? (What about
products targeted at Consumers but not
delivered DTC?)
What about findings of Clinical significance in
genomic Research? (And if the data isn’t
returned to participants?)
If genomic Research is monetized, is it now
Consumer personal genomics?
Federal Regulation
Congress Legislates
CLIA
FDCA
HIPAA
GINA
Common
Rule
Patent
Act
Hatch?
GPMA?
OPH?
Agencies Interpret and
Enforce
GINA’s Uncertain Impact
•
Significance: Only piece of federal legislation
specifically targeting genetic information.
•
Prohibits: health insurers from using genetic
information to deny coverage or set premiums
or payment rates (Title I) and employers from
requesting genetic information or using it in
hiring, firing and other employment decisions
(Title II).
•
Not Covered: Long-term care, life & disability
insurance. Military, VA.
•
Not Yet Known:
•
How will GINA impact employers, insurers and individuals? Enforcement?
•
Will GINA be extended (e.g., long-term care)? Is it necessary to do so?
•
How will future healthcare reform (e.g., the CLASS Act to create public long-term care
insurance) interact with GINA, genetic information?
State Positive Law
• Nondiscrimination and Privacy
– Genetic/medical privacy statutes overlap with existing federal and
state regulations of medical, genetic information (e.g., GINA,
HIPAA)
– For example, a 2008 NCSL study identified 9 states that restrict
discrimination in long-term care insurance on the basis of genetic
information (even though GINA does not)1
• Direct to Consumer Testing
– Regulated by roughly half of the states, inconsistent definitions
– Significant differences in substantive terms, application and
enforcement (e.g., clinical laboratory regulation, CLIA vs. NY)
1 http://www.ncsl.org/IssuesResearch/Health/GeneticNondiscriminationLawsinLifeDisability/tabid/14283/Default.aspx
State Common Law
•
Theories of Tort Liability
 Breach of duties to warn of risks, disclose complete and accurate
information
 Wrongful life / birth (carrier screening), products liability (sperm banks)
 General negligence
•
Medical Malpractice – the Doctor / Patient Relationship
 Duties to patients much greater than duties to research subjects
 Line becomes blurred as non-traditional advisory relationships between
individuals, providers and companies develop
•
Evolving Standards
 Duties to third parties (i.e., genetic relatives)?
 Duty to report, interpret “incidental” findings?
The $1,000 genome is coming…
…and the law is not ready
AD: Uniquely Important, Challenging
• Impact: 5.3 people have AD, 7th leading cause of death costs $172 BN
annually (and all of those numbers are rising).
• Fairness: how do we treat people fairly in an age of ubiquitous personal
genomic information? Is the goal actuarial fairness (accurate risk
prediction, insurance pricing) or moral fairness (individuals lack control over
their genes)?
• Utility: if we employ a “risk-based approach” to genetic testing regulation,
how is utility incorporated? Do we regulate (e.g., grant access) on the basis
of clinical utility or personal utility?
• Third Parties: Should third parties (e.g., genetic relatives, caregivers) have
a right to know (or to avoid knowing) genetic information affecting longterm wellness? Whose consent is required to access, share genetic
information?
Questions or Comments?
dvorhaus@rbh.com
or
Genomics Law Report
http://www.genomicslawreport.com/