In recent years major advancements have been made in the field of genetic testing, in that, we are much better equipped to understand what diseases a person can pass to their children, and even what diseases they may develop themselves. This advancing technology has allowed for greater access in the commercial sphere, as well with the development of what is called Direct-to-Consumer (DTC) genetic testing. Most would know this technology better by the companies that market them, 23AndMe and Ancestry. The FDA defines Direct-to-Consumer tests as tests that “are marketed directly to consumers without the involvement of a health care provider… These tests generally request the consumer collect a specimen, such as saliva or urine, and send it to the company for testing and analysis” (FDA, 2022). The use of DTC genetic testing is highly controversial. Those who like DTC genetic testing state that it provides greater access to people who can’t normally receive genetic testing due to financial and health insurance barriers. This can greatly benefit those in underserved and underrepresented populations in our communities. Those who dislike DTC genetic testing state they are concerned about privacy violations by companies and accuracy issues in the testing.
Historically, genetic testing has always been an expensive process. It would have cost
nearly $100,000 to test a human’s DNA back in 2009, however, today it costs close to $100 with some of these DTC genetic tests (Genome.gov, 2024). DTC testing has helped break down the cost and access barrier for those who lack the money to pay thousands of dollars to understand their genetics. This has, and will continue to, help those of lower socioeconomic status understand their health risk. 23AndMe’s standard test can assess for genetic risk for coronary artery disease, high blood pressure, sleep apnea, type 2 diabetes, and many other diseases (23AndMe.com, 2022). This can provide revolutionary preventative healthcare to disadvantaged populations by understanding their risk of diseases before they occur.
While the benefits of DTC testing are tempting, many experts have significant concerns with many aspects of the testing process and the companies that run them. Foremost among these are concerns with the accuracy and reliability of DTC genetic testing. For example, a major aspect of 23AndMe’s tests includes LRRK2, APOE, and BRCA1/2 genes, all of which are associated with major diseases. An issue in testing for these is that without a family history of the disease, the presence of said gene may say little about the individual’s disease or actual disease risk. Just because the presence of the LRRK2 gene is considered “disease-predisposing,” it does not mean one is likely to have Parkinson’s disease. If one does not have a significant family history of the disease, the presence of the variant may indicate little about their disease risk. This is due to various other genetic factors and variants that may contribute equally to disease prevention (Horton et al., 2019). A study in the United Kingdom found that the HNF4A gene increased the risk of diabetes by 75%. However, this increased risk was reduced to 10% in those without a family history of the disease (Horton et al., 2019). This is further worsened by outright inaccuracy issues in DTC testing itself. In a 2019 study, 49 individuals who had undergone DTC genetic testing were retested, and nearly 40% of people had false positive results, meaning that their result showed increased genetic risk even though it really wasn’t there (Horton et al., 2019). Overall, accuracy concerns severely limit the current use of DTC genetic testing.
Critics also feel the lack of legal regulation of DTC genetic testing could cause privacy concerns in the near future. Currently, the Food and Drug Administration (FDA) is the regulatory body for genetic testing, however, it has resigned most regulation to the state level. Due to the lack of knowledge on this topic, more than half of the states in the U.S. have no regulations for DTC genetic testing (Seward, 2018). As such, companies like 23AndMe have taken advantage of these loose regulations and have sold personalized genetic information to the highest bidder. In 2015, 23andMe agreed to a $60 million deal with pharmaceutical giant Genentech to provide test results from 800,000 customers to determine Parkinson’s associations. More recently, 23andMe agreed to a four-year deal with biotech/pharmaceutical company GlaxoSmithKline (GSK) to "discover novel targets for drug development” (23andMe, 2022). The compensation for this agreement was a staggering $300 million equity investment into 23andMe by GSK (Hendricks-Sturrup et al., 2019). In addition to selling genetic information to other companies, DTC companies have also struggled with data security. In October 2023, 23AndMe admitted over 14,000 customer accounts were accessed without authorization, constituting the largest genetic data breach in history. In October 2024, they reached a $30 million settlement with the individuals whose accounts were breached (Daniel, 2024). These situations cause major concern regarding whether DTC genetic testing can be trusted.
DTC genetic testing is an incredible technological tool, and in coming years and decades it will likely be utilized properly to help provide significant advancements in preventive medicine, especially for those in underserved socioeconomically disadvantaged areas. However, significant caution should be taken before incorporating it into any medical system. A history of data breaches, privacy violations, and accuracy issues by major DTC testing companies could cause much more harm than good to these patients.
Works Cited
1. Center for Drug Evaluation and Research. (n.d.). Direct-to-consumer tests. U.S. Food and
Drug Administration. Retrieved October 2, 2022, from
2. Center for Drug Evaluation and Research. (n.d.). Direct-to-consumer tests. U.S. Food and
Drug Administration. Retrieved November 4, 2022, from
3. The cost of sequencing a human genome. Genome.gov. (n.d.-b).
4. Daniel, L. (2024, October 18). 23andMe to pay up to $10,000 to data breach victims-are you eligible?. Forbes.
5. 23andMe announces extension of GSK Collaboration and update on joint immuno-oncology program. 23andMe, Inc. (2022, January 18). Retrieved October 25, 2022, from
6. 23andMe. (n.d.). About Us. 23andMe. Retrieved October 2, 2022, from
7. Horton, R., Crawford, G., Freeman, L., Fenwick, A., Wright, C. F., & Lucassen, A. (2019).
Direct-to-consumer genetic testing. Bmj, 367.
8. Seward, B. (2018). Direct-to-Consumer Genetic Testing: Finding a Clear Path Forward.
Therapeutic Innovation & Regulatory Science, 52(4), 482-488.
About the Author (Cohort 7 AHEC Scholar)
Calvin is originally from Le Roy, NY – a small town outside of Rochester. He graduated summa cum laude from Canisius with a BS in Biology, minoring in Psychology in 2023. Calvin is currently in the didactic portion of the Canisius’ Master of Science in Physician Assistant Studies, class of 2026.
Throughout his undergraduate studies at Canisius, Calvin served in multiple leadership roles. He acted as president of Beta Beta Beta, Canisius’ biological honors society, from 2021-2023. He initiated a program of student-led academic review sessions for freshman and sophomore level biology courses, encouraging mentorship and collaboration with peers. He also served as a freshmen Resident Assistant and a biology department teaching assistant for 3 years. In 2023, Calvin received the Resident Assistant of the Year Award from the Canisius Department of Student Life. Calvin also enjoys volunteering with WEDI Buffalo’s ENERGY program that helps to improve English reading and writing skills to students grades 1-8, as well as working with 716 Ministries to provide housing rehabilitation to the Buffalo area.
As a Canisius biology major, he worked as a research assistant with Dr. Andrew Stewart, focusing on the evolutionary biology of Drosophila melanogaster. This culminated in the presentation of the project titled “Sexual Selection, Female Body Size, and Fecundity in Drosophila melanogaster” at the 2023 Midwest Ecology and Evolution Conference and the publication of “Life history changes associated with over 400 generations of artificial selection on body size in Drosophila” in the Journal of Evolutionary Biology. Calvin is a two-time participant of the Canisius Earning Excellence Program for this research. Upon graduation, he received the Alexander Award for Outstanding Research in Biology and the Fialkiewicz Award for Academic Achievement.
Upon completion of his MS in Physician Assistant Studies, Calvin hopes to provide affordable healthcare to medically underserved populations in Buffalo.