Accurate genetic testing stands to transform modern medicine by offering effective, personalized treatment. Last week, the U.S. Food and Drug Administration (FDA) authorized marketing of the first direct-to-consumer (DTC) genetic health risk (GHR) tests. Individuals in the US can now purchase DTC tests and gain potentially useful information on their genetic predisposition to 10 diseases or conditions, such as late-onset Alzheimer’s or Parkinson’s disease.
The stated aim of DTC tests is to help individuals to make decisions about their health and support informed treatment. The FDA authorized tests indicate individual risk of developing conditions like Parkinson’s disease, Late-onset Alzheimer’s disease, Celiac disease, Alpha-1 antitrypsin deficiency, Early-onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, Glucose-6-Phosphate Dehydrogenase deficiency, Hereditary hemochromatosis, and Hereditary thrombophilia. Individuals will be able to gain direct access to personal genetic risk information by purchasing the kits over the counter. They then send a saliva sample to the company, and after 6-8 weeks receive the results to their inbox.
Despite past concerns about the reliability of DTC tests, the FDA has now approved specific tests for sale as medical devices on the basis of scientific literature that established a link between specific genetic variants and each of the 10 health conditions. Still, they are not “diagnostic” tests, instead the results indicate genetic risk, not whether one has or will develop a disease. The results do not take individual lifestyle factors into account, meaning that their reliability will vary.
The Right to Know
23andme promotes the tests as “intended to inform users of lifestyle choices and/or encourage conversations with a healthcare professional”. Ideally, individuals will make positive health choices based on their results and as a result, general health and wellbeing will improve, thereby bringing down the cost of treatment and insurance. Yet, this premise assumes that we make rational decisions based on available information. An opposing body of research argues that individuals tend not to make decisions based on long-term health. Clearly, we already know that, for instance, eating vegetables and engaging in physical activity are associated with better health outcomes, yet we often go against health advice.
Traditionally, genetic tests have only been available through healthcare providers, who should ensure that the individual is provided with adequate support should the results confirm a susceptibility to a particular disease. By cutting out the so-called middle man, individuals affected by their results may have to address the personal ramifications without professional support. Furthermore, individuals may misinterpret a susceptibility to mean that they will develop a particular disease. Another factor is whether individuals will communicate their results to their primary care providers, and whether healthcare professionals are adequately trained to provide tailored medicine based on these results.
Should individuals be able to independently access information on the risk of developing genetic diseases? As the tests do not diagnose an individual with a particular condition, there is a risk that they will needlessly lead to worry and anxiety about a condition that may not develop. A further question is what should we do with information on genetic susceptibility? Could the information that one doesn’t carry a genetic risk encourage unhealthy behavior? Indeed, these tests may increase unnecessary doctors’ visits, thereby increasing healthcare costs. Further, while one family member may feel they have a right to know, others may not want this type of information. Also, the manner in which family members communicate these risks to each other may cause unintentional distress. However, it should be noted that there is little evidence that DTC genetic tests have long-term negative psychological impacts.
Still, in 2004, the American College of Medicine Genetics Board of Directors advised against direct to consumer genetic testing:
“Potential harms include inappropriate test utilization, misinterpretation of test results, lack of necessary follow-up, and other adverse consequences”
In 2015, the Board updated its position to encourage minimum requirements for genetic testing such as: adequately accredited laboratories should be used to process the results, a genetics expert should advise consumers on the implications of the results and privacy concerns must be adequately addressed.
Finally, there is a risk that GHR promotes inequity as only those with sufficient means will be able to access the information.
US law provides certain protections from discrimination based on genetic information. The Genetic Information Nondiscrimination Act of 2008 (GINA) protects individuals from discrimination on the basis of their genetic information in relation to health insurance and employment. Under GINA, employers are prohibited from refusing to hire, or from firing any employee, or otherwise discriminating due to genetic information. Employees must not be deprived or treated in such a way that would adversely affect their status as an employee.
Also, usually employers cannot request or require genetic information. However, there are certain exceptions, including if health or genetic services are offered as part of a work wellness program. Indeed, Congress is currently considering a bill – the Preserving Employee Wellness Program Act – which would allow employers to penalize employees that don’t join workplace wellness programs that collect health and genetic data. As workplace wellness programs are often operated by third parties, there is a risk that such companies may sell employees’ genetic data without informed consent. Further, GINA does not apply to life, disability and long-term insurance, although certain states restrict the use of genetic information in determining coverage.
Genetic testing is certainly here to stay. Greater genetic awareness and information could encourage patient mobilization and demands for personalized medicine. 23andme is the world’s largest bio/databank and individuals are given the option to donate samples. So beyond individual information, research breakthroughs may be on the horizon should individuals choose to donate their samples for further study.
The views reflected in this blog are those of the individual authors and do not necessarily represent those of the O’Neill Institute for National and Global Health Law or Georgetown University. This blog is solely informational in nature, and not intended as a substitute for competent legal advice from a licensed and retained attorney in your state or country.