Introduction
Direct-to-consumer genetic testing is a relatively new phenomenon in the world of genetics and an anticipated consequence of the Human Genome Project. Easy access to information through the internet has empowered the consumer to self-educate in several areas, and especially in the realm of healthcare. A free market economy has opened up a new market for personal genetic information, and companies have already begun offering such a service to meet the demand. This development has afforded some positive aspects for consumers, but there are also several drawbacks to either completely unregulated laboratories offering this service, or laboratories with oversight, but little to no assistance with interpretations of results.
The Human Genome Project was completed in April 2003 (“All about the Human Genome Project,” 2015). The information generated by the project is now available for use by the public and healthcare professionals. New terms, like “personalized medicine”, or “precision medicine”, and “genomic medicine” have sprung from this project, and consumers are aware of it. Healthcare providers can use the information to help pinpoint genetic variants that more precisely define a disease, clarify a diagnosis, or more precisely prescribe medications for a patient with a specific condition. For example, warfarin is commonly used to decrease the risk for thrombus formation in patients with atrial fibrillation. But some people with a VKORC1 genotype will need a lower starting dose, as they are more sensitive to warfarin (http://www.ncbi.nih.gov/books/NBK84174). Patients, as consumers of healthcare, are also beginning to see the value of a personal genetic analysis as a way of exerting control over their own health, and even protecting themselves from potentially harmful therapies.
Benefits to Direct-To-Consumer Testing
The advent of direct-to-consumer genetic testing is beneficial in many ways. It allows patients to get the raw data of a genetic analysis without paying extra (in the form of copays, and insurance companies that are not likely to cover an unnecessary medical test). This is significant, as co-payment costs can be quite expensive. According to Matro et al., (2014), “coverage of genetic testing for hereditary cancer risk by private and federal insurers is neither uniform nor complete”, and co-payments can costs between “$400-1000 or more”. In contrast, an internet company called “23 & Me” offers a DNA analysis package that allows for a sample of DNA to be collected at home, and then sent for analysis to a lab for only $199. The analysis report is then provided to the consumer, and can be brought into a provider’s office for a discussion of the results, if the patient so desires.
One study of more than 1,000 consumers that participated in direct-to-consumer testing found that about a third of the participants believed the results provided could be used to improve their health (van der Wouten et al., 2016). The idea of being “proactive versus reactive” (Burke & Trinidad, 2016) in one’s approach to managing healthcare via a person’s genome is appealing to both providers and consumers alike. Some companies, like “23 & Me” offer only carrier status information, and they have recently been approved by the Food and Drug Administration to market this service (Humer & Steenhuysen). Finding out one’s carrier status for heritable conditions can help inform decisions regarding prenatal testing or the decision to have children at all.
Obtaining a genetic analysis through genetic testing companies allows the consumer to keep the information private, allowing for disclosure to healthcare professionals only if the patient wishes to do so. Although there are laws protecting the public from abuse of genetic information, people are often concerned about sharing their genetic make-up, and any risk to health that an analysis might reveal. The Genetic Information Nondiscrimination Act of 2008 (GINA) was enacted specifically for this purpose. Military personnel are not covered under this act, and this is one group of people that might benefit from the privacy a direct-to-consumer genetic test provides.
Another benefit to direct-to-consumer testing is the opportunity to be part of large research studies that could potentially improve our management of diseases, both common and rare. Each sample collected and analyzed can contribute to an ever-growing database of genetic material, if a consumer opts to allow his or her sample to be included. For instance, the internet service “23 & Me” includes a “ResearchKit” app with the purchase of a sample kit, which allows the buyer to have their health tracked in relation to their DNA sample. If they agree to participate, a consumer can easily enter their own data that can be mined for use by groups like Mount Sinai (the Asthma Health study) and Stanford Medicine (the MyHeart Counts study). These are only a few of the types of institutions that are currently using data from “23 & Me”.
Negative aspects of direct-to-consumer testing
There are also negative aspects of direct-to-consumer genetic testing. Genetic analysis of one’s DNA is personal and sensitive information, but is only one part of a person’s overall risk for disease, especially for common, complex diseases like diabetes and heart disease (Burke & Trinidad, 2016). All results from a genetic analysis should be reviewed in light of other factors that impact a person’s health, including the environment they currently live in and where they grew up, their diet, their support system, and their socioeconomic status. A simple report of genetic markers, perhaps coupled with statistics informing one of relative risk for a particular disease, is similar to having a blood pressure reading available, without knowledge of what a normal should be, given one’s age, weight, gender, diet, and co-morbidities. In other words, a raw report, without the benefit of a qualified genetic counselor and a qualified healthcare provider, can be a cause for unnecessary anxiety.
The direct-to-consumer kits often offer “multigene panels”, which often includes “unclassified genetic variants” (Kohlman & Robson, 2015, pages 22-24). This extra data is confusing to patients, and may or may not have any impact on their risk for disease, the management of the disease they may currently have, or have any clinical use at all. In addition, a patient could be looking for a specific risk marker and be given other, unanticipated risk markers that they are not prepared for. Pretest counseling is as important as counseling after results are available, so that patients can be guided through only the results they are prepared to and wish to receive (Kohlman, D.E. & Robson, M.L. 2015). Purchasing a DNA analysis without such counseling eliminates this important step, again causing a patient unnecessary worry.
Another concern is that direct-to-consumer labs are not always required to “meet accreditation standards equal to those of a clinical lab” (Brunstein 2016). This is partially attributable to how the genetic test is marketed. If the test is considered a “medical device” (Steenhuysen, 2015), then marketing approval must come from the Food & Drug Administration (FDA). But, if it is considered a “lab-developed test” then regulation would fall under the Clinical Laboratory Improvement Amendments (CLIA), which “do not require companies to prove clinical validity or usefulness in aiding patient care” (Steenhuysen, 2015). For instance, “23 & Me” was recently approved by the FDA to market a kit that checks for only 36 genetic tests for “carrier screening”. The company was ordered to stop selling its product (Personal Genome Service) in 2013, because the FDA did not approve the wide range of tests included in this service and the clinical validity it marketed (Humer & Steenhuysen, 2015). Currently under scrutiny is another company DNA4Life, which markets tests that predict drug response. The FDA contends that this test meets the definition of a medical device, but the company maintains it does not need FDA approval (Steenhuysen, 2015). With conflicting definitions about the service, providers and consumers are left in the dark as to whether the company is marketing a product that meets approval of an accrediting body like the FDA.
As the market increases, regulation is likely to increase, but not before a significant number of people buy into the direct-to-consumer service provided by the growing market. According to Brunstein (2016), the Food and Drug Administration has already warned three different direct-to-consumer companies in 2015 for marketing genetics testing with clinical relevance (but without real back up for these claims). As Brunstein (2015, pp ) notes, “we seem to be in a challenging situation brought about by technological capacity advancing faster than society’s ability to responsibly handle it.”
Considerations for Education and Research
Education regarding direct-to-consumer genetic tests is a public health necessity to protect the public from persuasive and sometimes misleading marketing by companies. It is also now a necessary part of healthcare professionals’ education, as all areas of healthcare will be impacted as knowledge in the field of genomics increases and clinical uses expand. Advanced practice disciplines (nurse practitioners, physicians and pharmacists) will need to be familiar with the concept in order to provide advice regarding direct-to-consumer test purchases (Loud, 2010). Entry level registered nursing students will also need to be aware of the field of genomics and its impact on patient care, as they are likely to encounter patients who are interested in genetic tests, or whose treatments are guided by genomic information. As the field evolves, so will the preparation of future generations of nurses, on all levels of practice.
Entry-level nursing education programs have yet to include this in the curriculum, at least not in a uniform way. With an ever-increasing need to use evidence-based research in practice, it is evident that this area will need to be included, as part of health promotion and disease prevention. As nurse educators find a way to incorporate this emerging trend in healthcare education, issues will arise, such as privacy and ethical use of genetic information for patients and the public. This is an area for research as nursing education changes to meet this new development.
References
(2015, December 16). Tier table database.http://phgkb.cdc.gov
(2015, October 1). All about the Human Genome Project (HGP).www.genome.gov/10001772/all-about-the–human-genome-project-hgp/
Brunstein, J. (2016, June). Perils, pitfalls, and promise of direct-to-consumer genetic testing. Retrieved from http://mlo-online.com
Burke, W., Ph.D. & Trinidad, S.B., M.D.(2016). The deceptive appeal of direct-to-consumer genetics. Annals of Internal Medicine, 164 (8), 564-565.
Collins, F.S., Patrinos, A., Jordan, D. Chakravarti, A, Gesterland, A.R., & Walters, L. (1998). New Goals for the US Human Genome Project: 1998-2003. Science, 282, 682-689.
Dean, L. (2016, June). Warfarin therapy and the genotypes CYP2C9 and VKORC1. Medical Genetics Summaries. Warfarin Therapy and VKORC1 and CYP Genotype – Medical Genetics Summaries – NCBI Bookshelf.
Hadjisavas, M. & Felciano, R. (2016, February). Soaring demand for genetic testing highlights need for streamlined data interpretation. http://mlo-online.com
Houfek, J.F., Soltis-Vaughan, B.S., Atwood, J.R., Reiser, G.M., & Shaefer, G.B. (2015). Adults’ perception of genetic counseling and genetic testing. Applied Nursing Research, 28, 25-30.
https://ghr.nlm.gov/primer/testing/directotoconsumer.
Humer, C. & Steenhuysen, J. (2015, October). 23 and Me reboots direct-to-consumer genetic test. MedPageToday. http://www.medpagetoday.com
Khoury, M. (2016, March 8). Direct-to-consumer genetic testing and public health education. (Web log). http://www.blogs.cdc.gov
Kohlman, W., Robson, M.E. (2015, August). Considerations in genetic testing. Personalized Medicine in Oncology, 4(4). http://www.PersonalizedMedOnc.com
Loud, J. (2010). Direct-to-consumer genetic and genomic testing: preparing nurse practitioners for genomic healthcare. Journal of Nurse Practitioners, 6 (8), 585-594.
Matro, J. M., Ruth, K.J., Wong, Y., McCully, K.D., Rybak, C.M., Meropol, N.J. & Hall, M.J. (2014). Cost sharing and hereditary cancer risk: Predictors of willingness-to-pay for genetic testing. Journal of Genetic Counseling, 23, 1002-1011.
Steenhuysen, J. (2015, November). FDA sends letter to DNA4Life over consumer gene tests. http://www.reuters.com
van der Wouden, C.H., Carere, D.A., Maitland-van der Zee, A.H., Ruffin, M.T., Roberts, S., & Green, R.C. (2016). Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Annals of Internal Medicine, 164 (8). http://annals.org
write