Legal and Ethical Challenges of International Direct-to-Participant Genomic Research: Conclusions and Recommendations

• Published in: The Journal of law, medicine & ethics medicine & ethics, 2019-12, Vol.47 (4), p.705-731
• Main Authors: Rothstein, Mark A., Zawati, Ma'n H., Beskow, Laura M., Brelsford, Kathleen M., Brothers, Kyle B., Hammack-Aviran, Catherine M., Hazel, James W., Joly, Yann, Lang, Michael, Patrinos, Dimitri, Saltzman, Andrea, Knoppers, Bartha Maria
• Format: Article
• Language: English
• Subjects: Cancer; Committees; Consent; Disease; Enrollments; Ethics; Health technology assessment; Internet; Internet access; Medical research; Patients; Rare diseases; Recruitment; Research ethics; Research methodology; Social networks
• ISSN: 1073-1105; 1748-720X
• DOI: 10.1177/1073110519898297

Direct-to-participant (DTP) recruitment and enrollment via the internet has proven to be an effective way of conducting genomic research, especially research on rare diseases. Although this novel manner for researchers to interact with prospective and enrolled participants has been approved by institutional review boards (IRBs) and research ethics committees (RECs)1 for domestic research, some IRBs and RECs have been reluctant to approve it for international research because of concerns about its legality in other countries. Thus, the threshold question is whether it is legal for a researcher in one country to recruit and enroll participants in another country when there has not been an ethics review in the participant's country. This determination is crucial because separate ethics reviews in numerous countries to obtain a small number of participants in each country would be extremely burdensome and greatly delay the research or preclude it entirely.To answer the question of whether international DTP genomic research is legal we enlisted expert collaborators from 31 countries, and their country reports are published separately in this symposium. Using the country reports as a starting point, this concluding article discusses the legal, ethical, policy, and practical ramifications of extending the DTP methodology to worldwide genomic research.2 Our example or “use case” for the entire article is genomic research on rare diseases, including rare cancers. It is one of the first applications of international DTP genomic research, and using a specific use case helps bring greater clarity to the range of difficult issues addressed in this article. In addition, researchers, patients, and their family members understand that new methods of scientific discovery are needed for rare diseases. According to a recent article from the International Rare Diseases Research Consortium and the Global Alliance for Genomics and Health: “The singularity and diversity of rare diseases, combined with the small number of patients for each disorder, effectively precludes conventional research discovery approaches…”3The analyses and recommendations in this article are solely those of the authors, and they do not necessarily represent the views of the authors of the country reports or others with whom we have consulted. In fact, all authors of this article do not necessarily agree with all of the analyses and recommendations.