Policy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study

Abstract

Background: The online offer of commercial genetic tests, also called direct-to-consumer genetic tests (DTC-GTs), enables citizens to gain insight into their health and disease risk based on their genetic profiles. DTC-GT offers often consist of a combination of services or aspects, including advertisements, information, DNA analysis, and medical or lifestyle advice. The risks and benefits of DTC-GT services have been debated and studied extensively, but instruments that assess DTC-GT services and aid policy are lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy and about the responsibilities these 3 parties have toward the public.

Objective: This study aimed to develop a framework that outlines aspects of DTC-GTs that lead to policy issues and to help provide policy guidance regarding DTC-GT services.

Methods: We performed 3 steps: (1) an integrative literature review to identify risks and benefits of DTC-GT services for consumers and society in Embase and Medline (January 2014-June 2022), (2) structuring benefits and risks in different steps of the consumer journey, and (3) development of a checklist for policy guidance.

Results: Potential risks and benefits of DTC-GT services were mapped from 134 papers and structured into 6 phases. In summary, these phases were called the consumer journey: (1) exposure, (2) pretest information, (3) DNA analysis, (4) data management, (5) posttest information, and (6) individual and societal impact. The checklist for evaluation of DTC-GT services consisted of 8 themes, covering 38 items that may raise policy issues in DTC-GT services. The themes included the following aspects: general service content, validity and quality assurance, potential data and privacy risks, scientific evidence and robustness, and quality of the provided information.

Conclusions: Both the consumer journey and the checklist break the DTC-GT offer down into key aspects that may impact and compromise individual and public health, safety, and autonomy. This framework helps policy makers, regulators, and law enforcers develop methods to interpret, assess, and act in the DTC-GT service market.

Keywords: direct-to-consumer testing; genetic privacy; genetic testing; health policy; informed consent; mHealth; mobile health; online market; policy decision; privacy; public health genomics.

Figure 1

PRISMA diagram describing the reviewing process of the literature search to identify relevant publications between January 2014 and March 2020 and between March 2020 and June 2022. *Papers from the literature update performed between March 2020 and June 2022. †This step was performed after checking whether the studies included in the literature update introduced themes that were not included in the primary search. All 7 papers that yielded novel findings could be retrieved. PRISMA: Preferred Reporting Items for Systematic Reviews and Meta-Analyses.

Figure 2

Flow diagram describing the complete process of DTC-GT services, called the consumer journey. As depicted, the consumer journey is broken down into 6 phases. In this study, consumers of the DTC-GT market were both individuals who purchased a DTC-GT or potential consumers who were considering buying the test. DTC-GT: direct-to-consumer genetic test.

Figure 3

Summary of findings, describing the benefits and risks (darker boxes) of DTC-GTs and their potential impact (lighter boxes) throughout the different phases of the consumer journey. DTC-GT: direct-to-consumer genetic test; PGx: pharmacogenetic tests (DNA tests that predict the patients’ response to specific pharmaceuticals, for example, adverse reactions or insufficient uptake of drugs); SES: socioeconomic status.