Tests for biomarkers that can identify preclinical Alzheimer’s disease (AD) are raising hopes for earlier treatments but also concerns about consequences associated with test results, according to Jalayne J. Arias, JD, MA, Associate Director of Cleveland Clinic’s NeuroEthics Program. She is principal investigator of a three-year study exploring the legal and ethical consequences of AD biomarker testing in asymptomatic individuals.
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“Initially, we wondered what the consequences would be if a research study tested participants for amyloid biomarker status and if that information were disclosed. Then we expanded our view to consider what the consequences would be if biomarker testing began in the clinical setting and was documented in patients’ medical records,” says Ms. Arias.
Her study, supported by a Mentored New Investigator Research Grant to Promote Diversity from the Alzheimer’s Association, focuses on potential employment and insurance discrimination.
The potential: clinical use of biomarkers
In 2011, the National Institute on Aging and Alzheimer’s Association’s clinical diagnosis update recognized three stages of AD: preclinical, mild cognitive impairment and dementia due to AD.
The guidelines also noted two biomarker categories: amyloid beta (Αβ) accumulation (via amyloid PET imaging or low cerebrospinal fluid Αβ42) and neurodegeneration or injury (such as elevated CSF tau and specific PET patterns).
These biomarkers are being used in research into preclinical AD, and “one may assume they will inevitably be approved for clinical use,” says Ms. Arias.
Limited protection with existing laws
In 2014, Ms. Arias and Jason Karlawish, MD, Professor of Medicine, Medical Ethics & Health Policy at the University of Pennsylvania, published a paper in Neurology outlining concerns that existing laws may not protect individuals from discrimination based on biomarker testing in Alzheimer’s research.
Their concerns included the following:
-The Genetic Information Nondiscrimination Act (GINA), which prohibits insurers and employers from discriminating against individuals with an APOE e4 allele, does not extend to biomarker tests.
-Protections under the Americans with Disabilities Act (ADA) are unclear because case law has not tested whether preclinical Alzheimer’s (based on biomarker status) constitutes a “disability” under the ADA.
-The Patient Protection and Affordable Care Act prohibits health insurers from denying coverage based on pre-existing conditions but contains no protections related to disability or long-term care insurance.
Confidentiality protections are included in research protocols, such as assigning code numbers for anonymity, and by the federal Health Insurance Portability and Accountability Act (HIPAA).
“Yet even with these protections, there is potential risk that information could inadvertently be disclosed,” Ms. Arias says. An individual might tell a work colleague about biomarker status, and the employer might then learn this information. As a result of their paper, Ms. Arias and Dr. Karlawish identified a need for additional research exploring the potential consequences associated with preclinical biomarkers.
Preclinical test’s impact on stakeholders explored
A prior study Ms. Arias conducted during her Cleveland Clinic Fellowship in Advanced Bioethics with Paul J. Ford, PhD, Director of NeuroEthics; Alexander Rae-Grant, MD; and Jeffrey Cummings, MD, Director of Cleveland Clinic’s Lou Ruvo Center for Brain Health, informed her current research.
In the study, 17 family members of individuals diagnosed with mild cognitive impairment were interviewed about the perceived benefits and harms of preclinical biomarker testing. Potential benefits identified included the ability to prepare for future financial needs; potential harms included worry and anxiety about future health. An analysis of the family member interviews, “Stakeholders’ Perspectives on Preclinical Testing for Alzheimer’s Disease,” has been accepted for publication in the Journal of Clinical Ethics.
Study aims to guide policy making
Ms. Arias’ three-year study is examining federal and state laws that affect how insurers and employers may use medical information to make decisions. She and her team are interviewing clinicians, human resource managers and insurance underwriters to explore physicians’ responsibilities when offering preclinical AD biomarker testing, including the potential for inadvertent disclosure. Their findings will be reported to the Alzheimer’s Association in 2017.