Genetic testing is essential for the evolution of medicine into a personalized and targeted field. Results of genetic testing can alter medical treatment, adapting the course of action to individual risk levels. For example, mutations in the BRCA1 and BRCA2 genes increase the risk of breast and ovarian cancer [1]. Patients with BRCA mutations may undergo preventative surgeries or begin annual screening for breast cancer at age 25, while patients without increased risk typically wait until age 45 to begin screening [1,2]. By tailoring screening to results of genetic testing, breast cancer is more likely to be found in early stages when survival rates are higher [3]. Unfortunately, genetic testing can also come with a dark side: the potential of becoming uninsurable.
Genetic testing and preventative measures should be encouraged to promote health and lower the overall cost of health care. According to a study published in American Health & Drug Benefits, patients with stage 4 breast cancer pay an average of 64% more in healthcare costs compared to patients with stage 1 or 2 breast cancer [4]. While genetic information is highly valuable for patient outcomes, it can also be a source of vulnerability. To prevent the use of genetic information for discrimination, the Genetic Information Nondiscrimination Act (GINA) was passed in 2008 [5]. GINA prevents use of genetic information in health insurance and job-related decisions [6]. For example, GINA prevents employers from charging more for health insurance premiums or firing employees based on genetic testing results [7].
However, current laws protecting the privacy of genetic information are inconsistent, leaving patients and consumers open to discrimination. Results of genetic tests ordered by doctors are entered into a patient’s medical records, and are accessible to insurance companies [8]. While GINA defends patients against genetic discrimination from health insurance agencies, GINA protections do not apply to long-term care, disability and life insurance policy decisions [9]. For instance, patients may be denied long-term care insurance coverage, or receive higher premiums if they have a genetic predisposition for conditions such as Alzheimer’s disease. Patients may be denied life insurance if they have a mutation that increases their risk of developing cancer. Reporting by Fast Company found that the life insurance application was denied for a 36-year-old woman who tested positive for a BRCA1 mutation [10]. GINA protections also exclude small businesses with fewer than 15 employees, military service members, and veterans receiving health care through the Veterans Health Administration [11]. These exceptions leave patients most susceptible to developing diseases uninsured and unable to receive the resources they need. Because of this risk, patients may opt out of genetic testing that could enable prevention or early detection of disease.
Early conceptions of GINA also prohibited genetic discrimination in all insurance decisions, but lobbying on behalf of insurance companies whittled the final bill down to health insurance alone [6]. Alternative types of insurance companies argue that their business model differs from that of health insurance companies. They reason that their business would crumble if they could not use genetic information to determine coverage and/or premium rates because fewer people purchase life insurance. In 2020, 91.4% of Americans had health insurance, while only 54% had life insurance and less than 4% had long-term care insurance [12-14]. This enables health insurance companies to offset costs with healthy, young customers [10]. On the other hand, patients who discovered they had a predisposition to developing Alzheimer’s disease were five times more likely to purchase long-term care insurance than patients without the mutation [10]. This self-selection enriches the smaller pool of customers with long-term care and life insurance policies for people who are more likely to need the services. Because of this, insurance companies argue that they should be able to deny coverage for applicants with genetic mutations that predispose these individuals to need coverage the most.
If patients have been denied long-term care insurance, they may pay the cost of these services out of pocket or require unpaid help from family and friends. The average cost of a non-medical home health aid is $52,624 per year [15]. The average price of a semi-private room in a senior living facility is $90,155 per year [15]. While Medicare does not cover long-term care costs, Medicaid is an option for some individuals [15]. However, to qualify for long-term care coverage using Medicaid, patients must make less than $842 per month, including social security and withdrawals from retirement accounts [16, 17]. Patients can also deduct medical spending from their monthly income to qualify for Medicaid coverage, meaning they could still be spending thousands of dollars per month out of pocket. These costs are unaffordable for most Americans, with the average retirement savings totaling less than $100,000 [18].
Direct-to-consumer genetic testing poses cybersecurity risks
Genetic testing can also be performed through private companies, such as Ancestry or 23andMe. Private companies that offer genetic testing services have become increasingly popular, with over 30 million customers as of 2020 [19]. GINA-exempt insurance companies have the right to request private genetic testing results to determine policy coverage and premium rates [8]. Furthermore, withholding relevant information from a life insurance application can be grounds for a life insurance company to rescind the policy or deny a claim [8]. However, many customers are unaware that insurance companies have the right to request this information. This casts doubt on whether customers are cognizant of the potential risks associated with taking the test and can provide true informed consent.
Furthermore, genetic testing through a private company comes with additional risks because they are outside the scope of the Health Insurance Portability and Accountability Act (HIPAA) and entirely self-regulated [20]. Their terms and conditions are subject to change, and a 2018 report found that nearly half of the 100 private companies examined lacked even a basic document outlining their privacy policies [21, 22]. Privacy regulations to which customers agree can also be overridden by police warrant for customer data [21]. Moreover, Ancestry, 23andMe and Helix allow customers to download their raw genetic data using their email and profile login [23]. Once customers download their data, it is no longer protected by company security measures. This makes customers potential targets for hackers to acquire raw genetic data still affiliated with identifying factors. The gravity of this potential data breach may not be fully understood by customers, again calling into question the nature of their informed consent.
Customers also have the option to upload their raw data to public databases such as GEDmatch [23]. New genetic information can be uploaded and compared to determine genealogical connections. GEDmatch can be used to find biological parents, or identify bodies and DNA found at crime scenes. Most notably, in 2018 the Golden State Killer was identified by matching crime scene DNA to that of a distant relative in the GEDmatch database [23]. This means that even if an individual has not consented to a genetic test, he or she can still be identified if a distant relative has uploaded their own data. In 2018, 76% of genetic profiles submitted anonymously had a match to a third cousin or closer in GEDmatch [24]. This level of relatedness is likely to lead to an identification. Experts estimate that over 60% of theoretically anonymized genetic profiles of European descent can be identified using these public databases and cross-referencing to public census information [24]. Ultimately, submission of individual genetic information to private companies and public databases affects more than just that individual.
Genetic information is highly valuable and personal. The loopholes in existing laws preventing discrimination, coupled with the self-regulation and privacy risks associated with private genetic testing, represent a serious risk to patients and consumers. The passage of the original genetic privacy legislation in 2008 took thirteen years of tireless effort from lawmakers, patients and science advocacy groups [25]. Another thirteen years has passed since GINA became law, and yet patients remain at risk of genetic privacy breaches and discrimination.
Edited by Elie Goldberg
1. “BRCA1 And BRCA2 Mutations.” ACOG, https://www.acog.org/womens-health/faqs/brca1-and-brca2-mutations#:~:text=Breast%20cancer%20screening%20may%20include,women%20aged%2025%E2%80%9329%20years.
2. “Cancer Screening Guidelines: Detecting Cancer Early.” American Cancer Society, https://www.cancer.org/healthy/find-cancer-early/american-cancer-society-guidelines-for-the-early-detection-of-cancer.html.
3. Jill Jin, MD. “Breast Cancer Screening.” JAMA, JAMA Network, 17 Dec. 2014, https://jamanetwork.com/journals/jama/fullarticle/2040228.
4. Blumen, Helen, et al. “Comparison of Treatment Costs for Breast Cancer, by Tumor Stage and Type of Service.” American Health & Drug Benefits, Engage Healthcare Communications, LLC, Feb. 2016, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822976/.
5. “The Genetic Information Nondiscrimination Act of 2008.” U.S. Equal Employment Opportunity Commission, https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008.
6. Suter, Sonia M. “GINA at 10 Years: the Battle over ‘Genetic Information’ Continues in Court.” Oxford Academic, https://academic.oup.com/jlb/article/5/3/495/5498593.
7. “Examples of Potential Discrimination Prohibited by Gina.” Municipal Technical Advisory Service, https://www.mtas.tennessee.edu/reference/examples-potential-discrimination-prohibited-gina.
8. Davis, Lidia. “How a Home DNA Test Could Complicate Your Life Insurance Application.” Reviews.com, 28 Oct. 2020, https://www.reviews.com/insurance/life/home-dna-test/.
9. “American Society of Human Genetics.” ASHG, 2 Dec. 2019, https://www.ashg.org/advocacy/gina/.
10. Farr, Christina. “If You Want Life Insurance, Think Twice before Getting a Genetic Test.” Fast Company, Fast Company, 6 Apr. 2016, https://www.fastcompany.com/3055710/if-you-want-life-insurance-think-twice-before-getting-genetic-testing.
11. Equal Employment Opportunity Commission. “Regulations Under the Genetic Information Nondiscrimination Act of 2008.” Federal Register, https://www.federalregister.gov/documents/2010/11/09/2010-28011/regulations-under-the-genetic-information-nondiscrimination-act-of-2008.
12. US Census Bureau. “Health Insurance Coverage in the United States: 2020.” Census.gov, 18 Oct. 2021, https://www.census.gov/library/publications/2021/demo/p60-274.html#:~:text=Highlights,part%20of%202020%20was%2091.4.
13. Facts + Statistics: Life Insurance | III. Insurance Information Institute, https://www.iii.org/fact-statistic/facts-statistics-life-insurance.
14. Sammon, Alexander. “The Collapse of Long-Term Care Insurance.” The American Prospect, 20 Oct. 2020, https://prospect.org/familycare/the-collapse-of-long-term-care-insurance/.
15. Levy, Lauren. “Paying for Alzheimer's and Dementia Care, According to Financial Advisors.” Care.com Resources, 19 May 2021, https://www.care.com/c/paying-for-alzheimers-dementia-care.
16. Dickey, Elizabeth. “When Medicaid in New York Will Pay for a Nursing Home and Other Long-Term Care.” Www.nolo.com, Nolo, 26 Oct. 2018, https://www.nolo.com/legal-encyclopedia/when-medicaid-new-york-will-pay-nursing-home-other-long-term-care.html.
17. “What's Included as Income.” HealthCare.gov, https://www.healthcare.gov/income-and-household-information/income/.
18. Vega, Nicolas. “Here's How Much Money Each Generation Has Saved for Retirement.” Make It, CNBC, 20 Aug. 2021, https://www.cnbc.com/2021/08/20/how-much-each-generation-saves-for-retirement.html.
19. Molla, Rani. “Why DNA Tests Are Suddenly Unpopular.” Vox, Vox, 13 Feb. 2020, https://www.vox.com/recode/2020/2/13/21129177/consumer-dna-tests-23andme-ancestry-sales-decline.
20. Chung, Jamison, et al. “Privacy Problems in the Genetic Testing Industry.” The Regulatory Review, 6 Aug. 2021, https://www.theregreview.org/2021/01/23/saturday-seminar-privacy-problems-genetic-testing/.
21. Rosenbaum, Eric. “5 Biggest Risks of Sharing Your DNA with Consumer Genetic-Testing Companies.” CNBC, CNBC, 16 June 2018, https://www.cnbc.com/2018/06/16/5-biggest-risks-of-sharing-dna-with-consumer-genetic-testing-companies.html.
22. Brodwin, Erin. “Genetic Testing Is the Future of Healthcare, but Many Experts Say Companies like 23andMe Are Doing More Harm than Good.” Business Insider, Business Insider, 12 Jan. 2019, https://www.businessinsider.com/future-healthcare-dna-genetic-testing-23andme-2018-12.
23. Brodwin, Erin. “After You Spit into a Tube for a DNA Test like 23andMe, Experts Say You Shouldn't Assume Your Data Will Stay Private Forever.” Business Insider, Business Insider, 16 Feb. 2019, https://www.businessinsider.com/privacy-security-risks-genetic-testing-23andme-ancestry-dna-2019-2.
24. Molteni, Megan. “Genome Hackers Show No One's DNA Is Anonymous Anymore.” Wired, Conde Nast, 11 Oct. 2018, https://www.wired.com/story/genome-hackers-show-no-ones-dna-is-anonymous-anymore/.
25. “Genetic Information Nondiscrimination Act (GINA) of 2008.” Genome.gov, https://www.genome.gov/24519851/genetic-information-nondiscrimination-act-of-2008.
