Confronting Our Future in Personal Genomics: An Analysis of the Controversies of Direct-to-Consumer Genetic Testing and Proposed Policy Recommendations

Abstract

Since the operations of 23andMe, the largest direct-to-consumer DTC genetic testing company, were suspended in 2013, the FDA has started a meaningful discussion about the future of personal genomics. The testing services of the company had not been approved, and the FDA feared that inaccurate results given to poorly informed customers could create a significant burden on the American healthcare system. After analyzing the genotyping technology used by 23andMe, it appears that the sequencing chips provide highly accurate readouts for individual genotypes. Difficulties arise when companies interpret the test results and provide the probability of developing each disease. Each DTC genetic testing company analyzes different single-nucleotide polymorphisms (SNPs) and formulates a different algorithm to predict risk. While it is important to standardize these components of genetic testing, the FDA must balance the protection of public health with the need for continued innovation. The testing procedures are not the only risk consumers face. Errors in the protection of privacy, informed consent, communication of risks, and consent to partake in research are additional concerns expressed by the FDA. Each aspect of this new industry must be carefully regulated. Through a collaborative effort between the FDA and DTC genetic testing companies, it is likely that policies can be developed to allow testing operations to resume while still protecting the health of the public. The objective of this work is to analyze the various controversies of DTC genetic testing and ultimately develop policy suggestions for the FDA.