JMIR Publications

ABSTRACT

Background:

With the online offer of commercial genetic tests, also called direct to consumer genetic tests (DTC-GTs), citizens can gain insight in their health and disease risk based on their genetic profile. DTC-GT offers often consist of a combination of various services or aspects, including: advertisement, information, DNA-analysis, and medical or lifestyle advice. Risks and benefits of DTC-GT services have been debated and studied extensively, but evidence regarding impact on individuals or society is still lacking. This leads to uncertainty among policy makers, law enforcers, and regulators on how to ensure and balance both public safety and autonomy, whose responsibility it is and what tools they have.

Objective:

This study aims to outline DTC-GT aspects that trigger policy issues and to help provide policy guidance regarding DTC-GT services.

Methods:

Potential risks and benefits of DTC-GT services for consumers and society as described in literature, including and beyond medical implications, were mapped via a systematic approach. These risks and benefits in the distinct service elements were structured into phases, following the steps that consumers take when using a DTC-GT service. Then, a checklist was designed which can offer guidance in DTC-GT policy issues. Checklist items were included about all DTC-GT service elements.

Results:

Potential risks and benefits of DTC-GT services were mapped from 134 articles, and structured into six phases. In summary these phases were called the consumer journey: 1) exposure, 2) pretest information, 3) DNA-analysis, 4) data management, 5) posttest information, 6) individual and societal impact. The checklist for evaluation of DTC-GT services consists of eight themes, covering 38 items that may raise policy issues in DTC-GT services. The themes include 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. The tools may help policy makers, regulators, and law enforcers to interpret, assess and act in the DTC-GT service market.