Genetic testing is one of the most groundbreaking technologies of the modern age. The advent of human genome sequencing has expanded medical research and enabled services such as 23andMe to offer affordable and accessible snapshots of an individual’s genetic risks. Despite the newfound ease of testing, concerns about privacy and fears of discrimination have stopped many people from getting tested or participating in medical research. The laws currently in place to guard against genomic discrimination have glaring loopholes, and out of their own financial interest, health insurance providers and employers have argued for scaling back those protections. However, genetic testing’s potentially revolutionary effects on modern medicine and individual health are too great for the fear of genetic discrimination to stand in its way. The government, rather than scaling back protections, should work to expand genetic privacy rights to encourage the testing necessary to achieve the promises of personalized medicine.
Predictive genetic testing was first offered to the population on a broad scale in the 1990s, when breast cancer was found to correlate with a mutated BRCA1/2 gene. This specific discovery led to testing for the mutation in millions of women with a familial history of cancer. Once the human genome was fully sequenced in 2003, the possibilities for genetic testing exploded: Rather than testing for just one specific gene, individuals could test for risks in patterns spanning multiple genes. Start-ups like 23andMe, founded in 2006, rushed to the marketplace with inexpensive at-home tests, promising to identify the genetic risk of cancer and Alzheimer’s in exchange for two milliliters of saliva and a few hundred dollars.
Knowing the genetic risk of medical conditions can be life-saving. A woman who tests positive for the BRCA1/2 gene, for instance, can undertake hormonal therapy or undergo a prophylactic mastectomy to reduce her odds of developing breast cancer. A test revealing the cystic fibrosis TCR gene mutation could tip someone off on whether it is safe to have children.
Despite the great potential of genomic testing, concerns over privacy and discrimination based on the results persist. In 2008, rapid advancements in genetic sequencing prompted Congress to pass the Genetic Information Nondiscrimination Act (GINA), which prohibited discrimination based on genetic information by health insurance providers and employers. Yet GINA only shields individuals from discrimination in health insurance without extending protections to other aspects of life.
In fact, GINA fails to protect against genetic discrimination in schooling, housing, mortgage lending, and even other types of insurance. Today, life insurance companies are legally able to deny applications on the basis of the applicants’ genetic testing results. For this reason, it is not uncommon for genetic services and counselors to advise clients to secure any desired life insurance before undergoing testing. The same is true for commercial transactions. In California, genetic information can legally be used as a basis for approving or denying real estate transactions. The mortgage application of a woman who has tested positive for the BRCA gene may be denied on the grounds of her predicted shortened life span and subsequent inability to pay the loan in full.
While GINA explicitly targets health care and employment, loopholes exist in protection from genetic discrimination in those industries. Though employers are technically barred from requiring access to genetic test results, they are able to gain access after an employee’s request for disability accommodation. Under the Americans with Disabilities Act of 1990, an employer is permitted to obtain the health records of an employee, which include results of genetic testing. Employers may also inadvertently gain access to genetic information when notations referencing genetic testing are included in other medical records within the employer’s access. For example, a woman undergoing hormonal therapy in response to testing positive for the BRCA mutation could have a reference to that testing in her medical records. In cases where genetic testing results are accidentally revealed, the protections in GINA do not apply.
These loopholes fuel concerns about genetic testing—concerns which may be slowing medical advancements. In 2015, President Obama launched the Precision Medicine Initiative to advance genetic testing and research on the human genome. Obama had worked on this bill since 2007, but refused to allow the bill to progress until genetic discrimination was regulated. The plan, which today is called “All of Us,” aims to collect genetic information and DNA samples from one million Americans by 2019. The plan is designed to develop patient-personalized procedures, as opposed to the one-size-fits-all approach of today’s medical methods. The advancements from such a program would be beneficial to modern medicine by providing more accurate diagnoses and effective medical treatments. Recently, however, the project faced a major setback when 30 percent of those who volunteered to provide their genetic material for the study refused to also provide access to their health records. Many cited concerns of privacy as the basis for their refusal.
Unfortunately, Congress seems to be working to limit the existing protections instead of closing the loopholes. This year, Congress is trying to pass the Preserving Employee Wellness Act (H.R. 1313), which would eliminate certain protection rights under GINA, in favor of genetic testing in workplace wellness programs. These programs, which were originally developed during the Obama administration to encourage healthy living, incentivize employees to turn over medical information—which sometimes includes genetic testing results—in exchange for discounted rates on health insurance.
While these wellness programs are not mandatory, businesses can offer participation incentives that border on coercion. Though employers would not legally be able to force employees to undergo genetic testing as part of these programs, employees who refuse could face four-figure penalties. As part of current workplace wellness programs, employers have charged employees 30 to 50 percent more on their health insurance for not participating in health surveys. These additional costs are a powerful motivator, so many employees may undergo testing and provide the results to secure affordable insurance. Upon obtaining genetic information indicating that an employee had a risk of a disease, an employer would be free to use that information to discriminate against the employee. H.R. 1313 would force Americans to choose between the privacy and safety of their medical records and affordable healthcare—potentially having a chilling effect on voluntary genetic testing.
The threat of a GINA rollback comes when genomic medicine is blossoming. Scientists continue to look for ways to improve genetic knowledge, acquire more genetic samples, and recruit more underrepresented groups to contribute to the databases. At a time when more protections against discrimination are needed, a bill like H.R. 1313 erodes the existing protections and obstructs the advancement of modern medicine; the focus of genetic policy reform should rest on increasing protection rights instead of eliminating what little privacy and safeguards left under GINA. The benefits of genetic testing should not be curtailed by the fear of genetic discrimination.