Genetic discrimination occurs when people treat others (or are treated) differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination. Some legal scholars have argued for a more precise and broader definition of genetic discrimination: "Genetic discrimination should be defined as when an individual is subjected to negative treatment, not as a result of the individual's physical manifestation of disease or disability, but solely because of the individual's genetic composition." Genetic Discrimination is considered to have its foundations in genetic determinism and genetic essentialism, and is based on the concept of genism, i.e. distinctive human characteristics and capacities are determined by genes.
Genetic discrimination takes different forms depending on the country and the protections that have been taken to limit genetic discrimination, such as GINA in the United States that protects people from being barred from working or from receiving healthcare as a result of their genetic makeup. The umbrella of genetic discrimination includes the notion of informed consent, which refers to an individual's right to make a decision about their participation in research with complete comprehension of the research study.
Within the United States, genetic discrimination is an ever-evolving concept that remains prominent across different domains. Emerging technology such as direct-to-consumer genetic tests have allowed for broad genetic health information to be more accessible to the public but raises concerns about privacy. In addition, the COVID-19 pandemic has exacerbated difficulties of those with genetic conditions as they have faced discrimination within the U.S. healthcare system.
The idea of genetic discrimination has been combated since the 1947 Nuremberg Code that was created shortly after WWII, during which thousands of racialized and disabled victims died in tests conducted in Germany. Since then, new issues of racialized genetic discrimination have come to light involving sharing of genetic information to genomic biobanks and subsequent novel treatments. Many countries are still developing policies to combat genetic discrimination in science, law, and everyday life.
Legal status
United States
There are multiple legal protections in place in the United States, such as Genetic Information Nondiscrimination Act (GINA), the Americans with Disabilities Act (ADA), and the Affordable Care Act (ACA), which all help to prevent genetic discrimination in the workplace, public services, and provide some insurance protection. Therefore, by law, those with genetic conditions are protected from possible discrimination and have a right to receive equitable care.
Genetic discrimination is illegal in the U.S. after passage of the Genetic Information Nondiscrimination Act (GINA) on May 21, 2008. It was signed into law by President George W. Bush, and passed in the US Senate by a vote of 95–0 and in the House of Representatives by 414–1. The legislation bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions. GINA also protects individuals from genetic discrimination in healthcare; however, GINA itself does not define what genetic information is, leaving it up for debate. Prior to the 2008 GINA Act, individuals could be denied insurance, either partially or fully, based on genetic tests they had received.
Although it was passed in 2008 there were 201 cases that cited GINA in 2010 and 333 in 2014. It was not until 2013 that a company actually faced penalties under GINA.
Health insurance discrimination In 2008, The New York Times reported that some individuals avoid genetic testing out of fear that it will would impede their ability to purchase insurance or find a job. They also reported that evidence of actual discrimination was rare. In November 2016 insurance company GWG Life was found to be collecting saliva samples in order to offer lower rates to people who are epigenetically healthier than others of their age. While this is positive discrimination, this does suggest future potential classification of clients by genetic data.
While the 2008 GINA Act does protect against genetic discrimination pertaining to health insurance, it does not protect against genetic discrimination under other forms of insurance, such as life, disability or long-term care insurance. Therefore, patients are enjoying less protection against genetic discrimination in comparison with other peer countries, such as France, Switzerland, Australia and the United Kingdom. Additionally, 2008 GINA offers no protection for home/mortgage insurance or when an employer has 15 or less employees. Excluded from the Act are also parties who are covered under Veterans Health Administration or Indian Health Services. Because a variety of medical tests serve as proxies for genetic information, proponents of insurer access to genetic information argue that it does not require specific limiting legislation. However, this represents an important problem for recruiting participants to medical research according to other scholars stressing that protecting American against discrimination may only happen with the advent of a voluntary moratorium by the insurance industry.
Direct-to-consumer genetic testing
Background Direct-to-consumer genetic testing was first offered in 1997 by GeneTree, a now defunct family history website. A genetic test is considered a direct-to-consumer test if it is presented to the consumer separate from a health care provider. These tests are easily accessible on the market and popularized by companies such as 23andMe and Ancestry.com. These genetic kits are expensive and disproportionately serve wealthy individuals. As a result, when the data collected from testing is sold to research companies, it represents a biased sample of the population. The Food and Drug Administration additionally halted all 23andMe marketing in 2013 over unsubstantiated claims 23andMe made regarding disease diagnosis and prevention. After an investigation, the FDA approved 23andMe to begin carrier screening in 2015 and to resume genetic health risk screening in 2017. This has led the way for an expansion of the market of direct-to-consumer genetic tests.
Controversy The shortage of knowledge about and awareness of direct-to-consumer genetic testing is one of the contributors to the previously limited purchasing of this kind of service. As technology has progressed, genetic testing has become a more wide scale practice, potentially affecting the privacy of consumers as a result. While some providers of DTC testing destroy the samples after giving the consumer their data, others keep the samples for future data use. The way in which samples that are sent to DTC genetic testing companies are used after analysis is an important point of ethical controversy, as many worry that the creation of biobanks form DTC data creates increased possibility for genetic discrimination. Genomic information is playing an increasingly important role in medical practice and progress. As DTC companies continue to grow, a large obstacle they face is creating a sense of trust with the public in promising to uphold nondiscrimination standards as consumer health data is not currently regulated. Some argue that the clinical utility of results from DTC tests is extremely limited and thus the risk of genetic discrimination is not worth the utility of DTC tests. However, DTC companies argue that the lack of regulation for these companies equip them for a unique position to provide important health related data for contributions to personalized medicine.
One current example of this ethical controversy was demonstrated in the 2018 announcement of 23andMe's partnership with the pharmaceutical company GlaxoSmithKline. In this deal, GlaxoSmithKline purchased a $300 million stake in 23andMe and in return 23andMe would allow the pharmaceutical company access to its biobank of genomic data for their pharmaceutical research. While these companies made this announcement in celebration of the opportunity for progress in pharmacogenomics and drug development, others were wary of the possible breaches of privacy that selling customer's personal genomic data may entail. Privacy concerns include incidental data sharing to third-party companies, such as insurance companies or employers. Privacy concerns with genetic information also extend to family members of DTC customers, having similar genetic make-up to their family member who did consent to data sharing, although these individuals did not consent themselves. GINA protects against genetic discrimination in health insurance and employment; however, there are circumstances of exception. For example, GINA does not protect individuals from genetic discrimination in life insurance, disability insurance, and long-term care or employees in companies with fewer than 15 individuals or in the military. DTC companies are not regulated in the same way as physician genetic testing and the disclaimers of data sharing in DTC companies is not as clear as medical biobanks, such as the All of Us project sponsored by the NIH. However, this does not necessarily mean that the intentions of DTC companies are nefarious. According to a qualitative study published in the Journal of Personalized Medicine, these companies can prevent the feared genetic discrimination from privacy breaches by advocating for updated policy to regulate data privacy and being intentional about only sharing genetic information to sources who intend to contribute to medical discovery with the appropriate ethical standards.
Genetic discrimination during COVID-19 COVID-19, or a coronavirus labeled SARS-CoV-2, is a highly-transmittable, respiratory virus first identified in Wuhan, China, in December 2019. The virus' global spread caused the COVID-19 pandemic. Some research suggests that genetic conditions are among the causes of co-morbid conditions that lead to more severe COVID-19 symptoms, such as death.
Early in the pandemic, many regions experienced shortages of medical resources like PPE and ventilators. Due to the high volume of COVID-19 cases, hospital systems enacted triage protocols to direct the use of limited resources. Some hospitals were accused of enacting discriminatory triage protocols which excluded those with genetic conditions, such as in Tennessee, where those with spinal muscular atrophy, an autosomal recessive disease, or other disabilities were prevented from receiving ventilators or other scarce resources. In other states, like Washington and Alabama, hospitals were accused of broader discriminatory allocation policies which prevented larger groups of individuals with genetic conditions under categorizations of chronic conditions or intellectual disabilities from receiving life-saving treatments, such as ventilators. Many advocacy groups raised complaints about these triage protocols to the Department of Health and Human Services Office of Civil Rights, and after the complaints the guidelines were removed.