Human genetics and insurance

SIGNIFICANCE: Due to the rapid growth of the available genetic tests and the use of genetic testing in recent years, it has become an integral part of health care. According to the National Institutes of Health, by the 2020s genetic tests had been developed for certain cancers, Parkinson's Disease, bipolar disorder, obesity, and thousands of other conditions, and the corpus of the more recent testing advances is in the area of common diseases. With this rapid advancement, an overarching concern of many social policy analysts and public health advocates is that as more genetic tests and screening become available, individuals who are considered high risk may be denied various types of insurance coverage such as life insurance. On the other hand, if such information is withheld from insurance companies, individuals might purchase extra life insurance, causing insurance companies to unknowingly carry unacceptably high risks. Some kind of balance between appropriate disclosure and privacy rights must be established.

High-Risk Individuals and Preexisting Conditions

In the 1990s and early twenty-first century, as tests for a steadily increasing number of genetic defects were perfected, a number of ethical concerns were raised about the possible effects of these tests. One major concern among both health experts and the general public was that negative results could lead to the denial of health insurance coverage to individuals identified as being at high risk. In 1995, provocative federal legislation was passed to prevent the misuse of genetic information. This legislation was thought to be very progressive given the little sequencing that had been performed on the human genome. Both before this legislation and afterward, a number of individuals began opting out of genetic testing due to concern that test results would be used against them by health insurance companies. The insurance industry has always been reluctant to insure people identified as being at high risk or who suffer from preexisting conditions, a reluctance that has intensified as health care costs have increased. For example, people with a family medical history of coronary artery disease have long been considered a higher risk than members of the general population. As a consequence, based on information provided through disclosures of family histories, these people occasionally have been denied health insurance coverage or have been required to pay higher premiums.

Similarly, people who suffer from conditions such as diabetes or hypertension and who change jobs or insurance carriers occasionally discovered that their new medical insurance would not pay for any treatment for medical conditions that had been diagnosed prior to obtaining the new insurance. Such “preexisting” conditions were considered ineligible for payment of benefits. While some insurance companies would put a time limit on the restrictions for coverage of preexisting conditions of a few months or a year, providing there are no active occurrences of the disorder, other insurers might exclude making any payments related to a preexisting condition for an indefinite period of time. A person with a chronic condition such as diabetes might discover that while a new insurer would pay for conditions unrelated to the diabetes, such as a broken leg, the individual would be solely responsible for any diabetes-related expenses for the remainder of his or her life. Alternately, a person with a chronic condition might discover that health insurance is available, but only at a much higher premium. Thus, participants were grouped according to various types of risk, each of these groups reflecting the probability of claims being made. In sum, when an insurance company calculated this probability, there inevitably had to be some kind of risk discrimination. Using this reasoning for how health insurance premiums would vary between people with different genetic testing results led to building public concern. (Note that under the 2010 Affordable Care Act, insurers can no longer exclude people or charge more on the basis of preexisting conditions.)

Because of the widespread view held by the American public that an individual’s genetic information should be protected from insurance and employment discrimination, new and relevant legislation was passed. The Genetic Information Nondiscrimination Act (GINA) of 2008 was passed as an effort to lesson fear of genetic discrimination, to encourage further genetic research, to promote genetic testing, and to advocate for scientific development. Additionally, many state laws have been passed to address the issues of insurance discrimination based on a person’s genetics.

The GINA legislation protects Americans from certain forms of discrimination based on information derived from genetic tests, whether taken through traditional medical providers or direct-to-consumer kits. The act prohibits insurance companies from discriminating by reducing coverage or increasing pricing and also prohibits employers from making decisions whether to employ individuals based on their genetic code. Furthermore, under the law, insurers and employers are prohibited from requesting or demanding any genetic test. However, a health insurer may request that an individual provide genetic information if coverage of a particular claim may be appropriate only if there is a known genetic risk. Similarly, the Equal Employment Opportunity Commission (EEOC) has ruled voluntary employer-sponsored wellness programs may request genetic information under GINA, but employers may not reward or penalize workers for providing or withholding such information.

Many questions still remain unanswered by the GINA legislation. For example, it has been noted that people should be given objective information about the limitations of any test in terms of any potential medical or health benefits, the reliability of the test, and its predictive value. Also, possible issues regarding the test results include the ability to procure life insurance and whether some of the genetic tests or preventive measures resulting from them should be covered by an insurance company. In addition, some proponents of the legislation had hoped that GINA would include protection for those individuals for whom a genetic illness has been diagnosed. There are major problems with creating legislation and protecting only those with genetic illnesses. For example, under the current system, insurance companies are allowed to underwrite for any diagnosed disease. Further, it raises the question of special treatment: Why would it be appropriate to treat people with genetic diseases differently from those whose diseases are nongenetic or have unknown causes?

Insurance and Genetic Screening

Insurance companies are just beginning to confront the problems of genetic tests for genetic predisposition to disease. In one court case, Katskee v. Blue Cross Blue Shield of Nebraska (1994), the plaintiff had been diagnosed with a 50 percent chance of developing breast and/or ovarian cancer. Consequently, she was seeking payment from her insurance company to cover the costs of prophylactic removal of her ovaries. Initially, the insurance company approved the surgery, but later it reversed that decision, saying that the plaintiff was not covered because her condition was not a “disease” or “bodily disorder.” The suit occurred because the plaintiff proceeded with the surgery anyway and then looked to the courts to help her collect from her insurer. The first ruling was in favor of the insurance company, but it was reversed on appeal, the higher court considering a 50 percent predisposition as meeting the definition of a disease.

One response from the insurance industry as cases like these become more common is to cover prophylactic treatments as a way of cutting long-term costs associated with development of the genetic diseases. There are many challenges for an insurance company in assessing benefits and harms of the genetic tests. For example, many benefits of genetic screening may be determined only years after taking the test. Thus, some of these predicted health effects can be overestimated. One obstacle for patients is that their adherence to a preventive measure may decrease, causing them to lose all or some of the perceived benefits of the preventive therapy. Additionally, treatment of disease may improve over time.

If the courts decide to require that insurers must fund prophylactic or preventive treatments, then another quandary occurs: At what percentage predisposition will insurers be required to cover the costs? A predisposition of 50 percent seems like a reasonable number, but what about 45 percent, also high? Covering any level of predisposition would be unreasonable, as it would bankrupt the system, so a line must be drawn, but where? Much more information will be needed before such lines can be drawn without being arbitrary.

In the case of degenerative disorders such as Alzheimer’s disease or Huntington’s disease, for which there is no prophylactic treatment available, patients may live for many years following the initial diagnosis of the disease while they become progressively more incapacitated and eventually require extended hospitalization or custodial care. It is now possible to detect the genetic markers for many conditions for which no effective preventive treatment exists. Alzheimer’s disease provides a particularly poignant example. As of the late 1990s, the connection between genes identified as appearing in some early-onset Alzheimer’s disease patients and the disease itself was still unclear. People who underwent genetic screening to discover if they carried that particular genetic marker could spend many decades worrying needlessly about their own risk of developing Alzheimer’s disease while knowing that there was no way to prevent it. At the same time, the identification of the genetic marker would have identified the patient as a high risk for medical insurance.

Huntington’s disease represents an even more serious case, in which the test is nearly 100 percent predictive. In fact, Huntington’s disease was the first autosomal dominant genetic disease for which a predictive test was developed that allows people at risk to know with certainty whether they have inherited the causative mutation before they become symptomatic. Thus, a positive test is essentially a guaranteed prediction of early death. Because of the severity of these diseases and the lack of cure, a number of geneticists and other analysts have suggested that despite the new GINA legislation, there may still be genetic discrimination. One survey study was conducted to assess the nature and prevalence of discrimination experienced by people at risk for Huntington’s disease, which included patients who had and had not undergone genetic testing. The study concluded that reported discrimination experiences occurred most often in insurance (29.2 percent), family (15.5 percent), and social (12.4 percent) settings. These results provided evidence that GINA has room for improvement.

In some cases, however, there are many benefits of genetic screening. For example, certain cancers have long been recognized as running in some families. Doctors routinely counsel women with a family history of breast cancer to have annual mammograms and even, in cases where the risk seems particularly high, to undergo prophylactic mastectomy or lumpectomy. The discovery of genetic markers for breast cancer suggests that women who are concerned that they are at higher-than-average risk for the disease can allay their fears through genetic screening rather than subjecting themselves to disfiguring surgery. Many patients with a high-risk family profile previously feared that even if the screening turned out negative, their request for the test would serve as a flag to health insurers. The GINA legislation now promotes such testing, which is highly advantageous in this type of case. In a climate of rising medical costs and efforts by both traditional insurance providers and health maintenance organizations to reduce expenses, many people feel there is good reason to fear that genetic screening will serve primarily as a tool to restrict preventive care or other types of related insurance. In response to these concerns, a number of government studies have been undertaken to assess potential remedies. Some possible solutions include making the results of many genetic tests confidential or enacting laws to limit their availability in certain instances.

Impact of Medical Genomics

With the mapping of the human genome completed in 2003, it suddenly became clear that nearly all human disease—from complex chronic conditions such as cancer, Alzheimer’s, and diabetes to the predisposition for infectious disease and even trauma—has some genetic basis. Although genome sequences are essentially the same among all individuals, what variation there is accounts for many of the differences in disease susceptibility and other health-related differences. All of this has made the drive to study human genomics as it affects human health a burgeoning new field, medical genomics, that promises to affect every medical field. The basis for this discipline is data gleaned from large, well-designed, and controlled clinical studies that are being developed and implemented in several nations to provide information on how genes influence a wide range of traits, from disease states to behavior.

Given some of the new situations and unknowns that are outlined above, other areas of our society must be investigated in which it might be tempting to abuse or misuse genetic information. GINA addresses only employment and health insurance; the act does not address life insurance, disability insurance, or long-term care insurance, or discrimination in other realms of life, such as housing, mortgage lending, education, or government programs. Nor does it apply to military or government agencies or to small businesses with fifteen or fewer workers. Additionally, other protections for the proper use of genetic information will have to be legislated and put into practice.

Although GINA was little tested in court in its first fifteen years of existence, advances in genetic science have raised concerns that insurers can take advantage of epigenetic factors to discriminate against patients. Epigenetic factors refer to genetic information found in a person’s environment that could affect their health. Advocacy groups such as the American Civil Liberties Union (ACLU) caution that insurers may use these factors as a loophole to skirt the legal regulations of GINA. The group and other advocates have called for updated GINA legislation to close the potential loophole.

Although the GINA legislation has many advocates, the act also had its share of critics. Specifically, some claim that that act was not broad enough to include an insurance company’s discriminatory use of all health information. Advocates of a broader act claim that a patient who requests a test for any health condition could be discriminated against. Additionally, the differentiation of genetic information from other health information is problematic. For example, a patient with a history of familial hypercholesterolemia might undergo testing to determine low-density lipoproteins (LDLs); in this case, one could argue that this is a genetic test (although it is not defined as one in the act). Finally, critics also note that GINA’s protections do not extend to life insurance, disability insurance, and long-term care insurance.

Key terms

• Alzheimer’s diseasea degenerative brain disorder usually found among the elderly; sufferers gradually lose cognitive function and become unable to function independently
• chronic illnessan ongoing condition such as diabetes or hypertension
• high riskcharacterized by being likely to someday suffer from a particular disease or disabling condition
• preexisting conditiona disease or disorder that is diagnosed prior to a person’s application for insurance coverage

Bibliography

Brody, William R. “A Brave New Insurance.” Wall Street Journal 20 Dec. 2002. Print.

Chen, Angela. "A House Committee Thinks Your Boss Should Be Able to See Your Genetic Information." The Verge, 20 Mar. 2017, www.theverge.com/2017/3/20/14880400/politics-law-bioethics-genetic-privacy-discrimination-gina-workplace-wellness. Accessed 4 Sept. 2024.

"DNA Test & Genetic Testing." Cleveland Clinic, 21 May 2022, my.clevelandclinic.org/health/diagnostics/23065-dna-test--genetic-testing. Accessed 4 Sept. 2024.

“Genetic Discrimination.” Genome.gov. Natl. Human Genome Research Inst., 5 Mar. 2014. Web. 29 July 2014.

Grant, Crystal. "It’s Time for Congress to Update Our Genetic Nondiscrimination Law." ACLU, 23 May 2023, www.aclu.org/news/privacy-technology/its-time-for-congress-to-update-our-genetic-nondiscrimination-law. Accessed 4 Sept. 2024.

Hubbard, Ruth, and Elijah Wald. Exploding the Gene Myth: How Genetic Information Is Produced and Manipulated by Scientists, Physicians, Employers, Insurance Companies, Educators, and Law Enforcers. Boston: Beacon, 1999. Print.

Joly, Y., B. Knoppers, and B. Godard. “Genetic Information and Life Insurance: A ’Real Risk.’” European Journal of Human Genetics 11 (2003): 561–64. Print.

Karsten, Jack, and Darrell M. West. "Defining Pre-Existing Conditions in an Era of Genetic Testing." Brookings, 5 Nov. 2018, www.brookings.edu/blog/techtank/2018/11/05/defining-pre-existing-conditions-in-an-era-of-genetic-testing. Accessed 4 Sept. 2024.

Orin, Rhonda D. Making Them Pay: How to Get the Most from Health Insurance and Managed Care. New York: St. Martin’s, 2001. Print.

Plows, Alexandra. Debating Human Genetics: Contemporary Issues in Public Policy and Ethics. London: Routledge, 2011. Print.

Pulst, S. “Genetic Discrimination in Huntington’s Disease.” Nature Reviews 5 (2009): 525–26. Print.

Rifkin, Jeremy. The Biotech Century: Harnessing the Gene and Remaking the World. New York: Putnam, 1998. Print.

Schultz, David. “It's Legal for Some Insurers to Discriminate Based on Genes.” NPR. NPR, 17 Jan. 2013. Web. 29 July 2014.

US Congress. Senate. Committee on Health, Education, Labor, and Pensions. Fulfilling the Promise of Genetics Research: Ensuring Nondiscrimination in Health Insurance and Employment. Washington, DC: Government Printing Office, 2001. Print.

US Congress. Senate. Committee on Health, Education, Labor, and Pensions. Protecting against Genetic Discrimination: The Limits of Existing Laws. Washington, DC: Government Printing Office, 2002. Print.

"What You Should Know: Questions and Answers about the Genetic Information Nondiscrimination Act (GINA) and Employment." US Equal Employment Opportunity Commission, www.eeoc.gov/eeoc/newsroom/wysk/gina‗nondiscrimination‗act.cfm. Accessed 4 Sept. 2024.

Zallen, Doris Teichler. Does It Run in the Family? A Consumer’s Guide to DNA Testing for Genetic Disorders. New Brunswick: Rutgers UP, 1997. Print.