Non-clinical direct-to-consumer genetic testing: a scoping review of regulatory frameworks and issues

Abstract

Introduction

Direct-to-Consumer Genetic Testing (DTC-GT) provides consumers access to genetic tests without the mediation of healthcare professionals. This raises regulatory and ethical concerns including potential misinformation from company claims, especially in Singapore where DTC-GT is limited to non-clinical applications and is presently not regulated under health products regulations.

Objective

This scoping review aims to map non-clinical DTC-GT regulatory guidelines and compare data protection laws for genetic data to understand the regulatory landscape.

Methods

Online databases (PubMed, EBSCO, Springer, ScienceDirect, Embase, Web of Science, and SCOPUS) were used to identify papers published from 2000 onwards along with grey literature like websites and reports from Google searches.

Results

Based on the scoping review, 35 publications were identified, comprising 19 regulations and guidelines, and 16 relevant articles. Our findings indicate that the regulatory landscape of DTC-GT lacks uniformity, with most jurisdictions without specific regulations for non-clinical DTC-GT. 7 jurisdictions were identified to have data protection laws concerning genetic data privacy.

Conclusions

The review concluded that non-clinical DTC-GT is generally perceived as low-risk, resulting in minimal regulatory scrutiny across the surveyed regions. Despite the fundamental roles of informed consent and anonymisation of genetic data within existing frameworks for genetic data privacy, the regulation of non-clinical DTC-GT remains either limited or entirely absent due to its low-risk classification. Consequently, there is a significant need to enhance consumer health literacy, ensuring individuals are well-informed about GT services and are aware of the limitations and implications of data privacy risks. This approach is essential for safeguarding consumer interests in the evolving genetic testing landscape, as accuracy and reliability of these tests can be questionable, often leading to misinformation.

Public Interest Summary

This scoping review highlights that non-clinical DTC-GT often have minimal regulations because they are seen as low risk. However, the lack of specific regulations for how genetic data is collected, used, and shared poses privacy concerns. As genetic research technology advances, regulations should be adaptable and based on fundamental principles to keep up with these changes. It is also crucial to protect individuals from discrimination based on their genetic information. While there is no urgent need to regulate non-clinical DTC-GT that do not impact medical diagnoses, there is a growing concern about companies suggesting these tests have clinical importance without clear evidence. The best way forward is to implement strong consumer education programmes to help people understand the risks and benefits of non-clinical DTC-GT, ensuring they can make informed choices.