Potential Benefits and Drawbacks to Direct-to-Consumer Genetic Testing by Dr. Paul Cottrell


With the advent of the genomic age we are now able to sequence individual genomes and determine the likelihood of developing a disease state. Due to the lower cost of sequencing DNA at a large scale there has been a plethora of DNA kits for the consumer market. This opens opportunities for direct contact to the consumer about their individual ancestry and potential diseases. These opportunities on the surface seem useful for the consumer, but we must consider the validity of the pathological or non-pathological claims. This direct-to-consumer genetic testing market might need to have better regulatory oversight to maintain validity and quality of the genetic claims. In addition to collecting DNA information on individuals, it is possible to correlate genetic linkage maps on larger population sets to see patterns of disease and potential therapies. With any personal information security is of the upmost importance, especially with individual DNA sequences. 

Potential Benefits 

The purpose of personal genetic testing is to determine the following: risk of disease, screening newborns, directing clinical management, identifying carriers, and establishing prenatal or clinical diagnosis or prognosis (Shuren, 2010). With proper oversight from the Food and Drug Administration (FDA) consumers can have a higher assurance of the validity of the DNA testing kits used for their individual genetic testing. Instead of visiting a health care provider for genetic screening, consumers can obtain their genetic profiles without over burdening the current health care system. This method of distribution to obtaining DNA material is a lower cost alternative. In terms of informing consumers about their genetic profile, there is the potential in catching diseases early and mitigating some, if not all, the effects of the disease. This has a huge psychological effect on the consumer, especially with family history of a potentially serious disease, e.g. Huntington’s Disease or Alzheimer’s Disease. In terms of prenatal testing, parents can prepare for potential serious childhood diseases and decide if the pregnancy should be terminated. Even though prenatal testing involves a health care provider to perform, it can be compared to DNA screening for commercial kits of the parents. In terms of family history of cancer, direct marketing to consumers for DNA screening has the potential for disease prevention and early detection (Kontos and Viswanath, 2011). By searching for oncogenes and potential genomic structural issues that might promote the pathology of cancer through DNA processing companies, consumers can get probability distribution curves. This allows for consumers be actively involved in their health care management, which has positive externalities from a psychological perspective. 

Potential Drawbacks

There are many potential drawbacks to direct consumer genetic testing: testing individuals that are not at high risk, security issues with storing of generic material, over burden of sequencing a mass population, validity of genetic profile claims, negative psychological effects of knowing the potentiality of a deadly disease without any clinical signs, income disparity issues, and educational hurtles in the pubic with understanding medical and statistical concepts. Professional health care workers are concerned with the over testing of low risk populations, as well as the lack of linkage of genetic variants and pathological disease states (Kontos and Viswanath, 2011). Higher literacy in understanding the genetic profile results are needed amongst the public to fully utilize their profile information. It is possible that an ill-informed public on genetic profiles might increase clinical visits, whereby increasing health care costs. Another potential negative side effect is the erosion of the patient-provider relationship (Kontos and Viswanath, 2011). The American Society of Human Genomics recommended the following to improve direct-to-consumer genetic testing: transparency of information provided to the consumer, inform the public that certain genetic tests might lack analytic and clinical validity, ensure DNA testing and laboratory quality (Hudson et al., 2007). 


The genomic age has provided researchers, health care providers, and patients with some new tools to help manage and surveil serious disease states. This new age of patient involved medicine can be a powerful tool if the regulatory framework is in place to ensure quality of genetic profiles. In addition to better regulatory frameworks for direct-to-consumer genetic testing, consumer involvement and medical education are needed to truly discern what their genetic profile means in terms of potential pathologies. 

References Hudson, K., Javitt, G., Burke, W., & Byers P. (2007). ASHG statement on direct-to-customer genetic testing in the United States. The American Journal of Human Genetic 81, 635- 637. Retrieved from www.ajhg.org.

Kontos, W. Z., & Viswanath, K. (2011). Cancer-related direct-to-consumer advertising: a critical review. Nature Reviews, 11, 142-150. Retrieved from www.nature.com/reviews/cancer. 

Shuren, J. (2010). Direct-to-consumer genetic testing and the consequences to the public. The Subcommittee on Oversight and Investigations. Retrieved from http://www.fda.gov/NewsEvents/Testimony/ucm219925.htm.