Abstract
Protections against genetic discrimination advance genetics research and the clinical use of genetics, as well as ensure the ethical use of genetic data. Ten years after the passage of the Genetic Information Nondiscrimination Act (GINA), the American Society of Human Genetics remains a staunch advocate for GINA’s strong implementation and for other laws that enhance protections for the public.
Main Text
Genetic discoveries should be used for the public good and never used intentionally to cause harm. To that end, the American Society of Human Genetics (ASHG) has long fought for strong legal protections against genetic discrimination because it is inherently unfair to penalize someone for their genetic makeup. As genetics experts, we know that each person’s inherited genome, including genetic variants that increase disease risk or are protective, is the product of chance inheritance of their parents’ genetic material. Because this biological process is elemental to being human and clearly beyond individual control, all persons should be free from discrimination or favoritism due to their individual ancestry or genetic status.
On the basis of our values and scientific knowledge, ASHG has been a leading promoter of the Genetic Information Nondiscrimination Act (GINA),1 which established new protections for Americans against genetic discrimination in the workplace or through health insurance. Since its passage in 2008, ASHG has remained a fierce advocate for robust enforcement, for additional protections against unfair treatment, and for similar protections outside the US.
GINA and Additional Protections
Passed by the US Congress and signed by President George W. Bush in 2008, GINA reassures individuals that participation in research or clinical genetic testing will not harm their opportunities in the workplace or affect their health insurance coverage. In this way, GINA fosters advances in genetics research and genetic medicine. The need for it was identified early in the Human Genome Project, when it was recognized that public fear of unfair treatment based on genetics could limit individuals’ willingness to take part in research or take a genetic test.2, 3 Passage was possible thanks to 13 years of dedication by members of Congress—led by Congresswoman Louise Slaughter (D-NY) and Senator Olympia Snowe (R-ME)—and an advocacy coalition of ASHG, patient groups, researchers, healthcare providers, and legal experts.
GINA prohibits discrimination based on a person’s genetic information, and additional work has expanded its aims. Provisions in the Affordable Care Act (ACA), passed 2 years after GINA, built on its core principles by adding significant additional health insurance protections for patients by prohibiting discrimination based on whether an individual has a manifest disease, or “pre-existing condition,” often caused or influenced by the individual’s genetics.
GINA’s Impact and Value in Research and Medicine Today
GINA anticipated a future when large-scale genome sequencing would be integral to scientific investigations and genome analyses would be part of routine clinical care. Today, this is becoming a reality: we live in the era of the $1,000 genome with a growing array of genetic tools, diagnoses, and treatments that are advancing science and helping patients. GINA’s protections continue to address concerns and enable participants to join important large-scale research studies—such as the All of Us Research Program4—which depend on recruitment and full participation of individuals from all population subgroups. GINA’s protections also reassure patients that they can confidently take genetic tests necessary for state-of-the-art clinical care.
Continuing to build public awareness of GINA’s protections remains key to reducing any remaining public concern.5, 6 Providing informed consent during enrollment for research studies is one important opportunity to build that public awareness.7, 8 Public educational efforts include ASHG’s recent video describing the law in lay terms.1 Additional research could help determine how best to describe GINA’s strong coverage protections and limitations to ensure that communication includes sufficient and accessible detail that does not cause alarm or worry.
It is reassuring that there have been few known attempts at genetic discrimination, perhaps because GINA is an effective deterrent. Claims of GINA violations represent only a tiny fraction of the charges received by the Equal Employment Opportunity Commission (EEOC; 0.2% of all charges received in fiscal year 2017).9 GINA violations investigated by the EEOC typically involve illegal inquiries about employees’ or job applicants’ family medical history (see this press release10 for a recent example). Only rarely have there been claims of blatant discrimination.11 Similarly, there is little evidence that health insurance companies are practicing genetic discrimination. Further, we are aware of no evidence that genetic discrimination has resulted from genetic research participation.
Looking Forward: Ensuring Strong Protections against Genetic Discrimination
As genetic research and medicine advance at an unprecedented pace, it is imperative that we advocate for policies that maximize public benefit and minimize harm.
GINA’s focus on health insurance raises the issue that new laws might be needed to establish similar protections in the life, long-term care, and disability insurance markets.6, 12 ASHG believes in comprehensive protections against any genetic discrimination, as evidenced by its strong support of the all-encompassing Canadian Genetic Non-discrimination Act.13 For insurances other than healthcare in the US, there is no obvious path forward for a federal law, and ASHG supports strengthening the patchwork of state laws that regulate these markets to provide robust protections. ASHG also applauds efforts in other countries to broaden and strengthen laws prohibiting genetic discrimination and will support the leadership of other major human genetics research organizations when their positions are consistent with ASHG policy.
Beyond expansion to new coverage, ASHG will advocate for protection of GINA itself from changes that would weaken the law or limit its implementation.14, 15 The broader genetics community must continue to engage with the public and the medical community about the importance of genetic non-discrimination. ASHG will speak out in support of GINA and related provisions in other laws, such as the protections for patients with pre-existing conditions in the ACA. Far more people will be able to benefit from transformative new genetics knowledge and applications if they can dependably receive that care through health insurance without fear of discrimination.
Acknowledgments
The statement above has been reviewed, edited, and approved by the ASHG Executive Committee on behalf of the ASHG Board of Directors. They alone are responsible for its content. The statement was informed by input from ASHG members with expertise and interest on the topic but does not necessarily represent the views of those members. ASHG thanks them for their contributions, dedication, and input.
References
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