Ethical Issues in Cutting-Edge Genomics Research

Scholar: Amy L McGuire, JD, PhD

Detailed sequencing of a person’s DNA offers great promise for better understanding the mechanisms of disease and developing new treatments. Dr. Amy McGuire has carried out innovative research on ethical issues regarding cutting-edge genomics science.

Dr. Amy McGuire and colleagues were the first to analyze the policy implications of the uniqueness of a person’s DNA.

Ethical concerns about sharing large-scale genomic sequencing data

Sharing detailed genomic sequencing data with other researchers speeds up scientific discoveries and provides benefits to society. Since the beginning of the Human Genome Project such data have been released into the public domain. However, even if explicit identifiers such as name and address have been removed, detailed DNA sequencing results might still be linked to an individual. These privacy risks, however, are often not discussed when people consent to donate tissue for DNA sequencing studies. To better balance the scientific usefulness of sharing genomic sequencing data with respect for privacy, Dr. McGuire proposed that informed consent from donors be required for public release of potentially identifiable sequencing data and that detailed genomic sequencing research be overseen by an Institutional Review Board (source).

 Although public release of genomic data speeds up scientific discoveries, it fails to respect the preferences of many tissue donors.

How should consent for sharing data be obtained?

To study how best to obtain consent for sharing genomic data and to assess participant attitudes about data sharing, Dr. McGuire and her research team carried out a randomized controlled trial to evaluate three different consent forms regarding data sharing. She studied research participants in actual genome sequencing studies, a more rigorous research design than asking people about a hypothetical study.  Subjects who were being recruited into an actual genome sequencing research study were randomized to receive one of three experimental consent forms:

  • Traditional consent, in which participants had to agree to the release of their genetic information into publicly accessible databases to participate in the study
  • Binary consent, in which participants could agree either to make data publicly available or not to share data with other researchers
  • Tiered consent, in which participants could choose sharing in publicly accessible databases, sharing in restricted databases accessible only to approved researchers, or no sharing at all.

Next Dr. McGuire’s team debriefed participants, surveyed them about their understanding of and preferences for genomic data sharing, and asked if they had changed their minds about sharing their genetic information. Before debriefing, 83.9% of participants permitted public data release. After debriefing, about one-third changed their choice:  53.1% ultimately chose public data release, 33.1% chose restricted sharing, and 13.7% opted out of all data sharing. Participants who received the traditional consent form were more likely to choose public data release as their final choice and the least likely to choose no sharing. Participants randomized to tiered consent were less likely to change their preference after debriefing. Dr. McGuire and colleagues concluded that although full public data release would enhance their scientific usefulness, it failed to respect the preferences of almost one-half of study participants, who wanted to restrict data sharing (source)

 For research projects that analyze detailed genomic sequencing and clinical data, IRB review may be warranted to help protect the privacy of research participants.

Recommending policies for sharing genomic data

Dr. McGuire has also recommended policies for data sharing in large-scale genomic sequencing studies. Dr. McGuire was lead author of a paper by researchers in a multi-institutional collaborative genomic sequencing project. The original consent from donors to provide tissue for genomic research does not always anticipate large-scale data sharing and often restricts the use of the tissue to research related to a specific disease such as cancer or prohibits its use for certain research, such as on substance abuse or other stigmatized conditions. Federal regulations allow de-identified data that are not linked to explicit identifiers to be shared and used in research without IRB review. Dr. McGuire and colleagues argued, however, that for research projects that analyze detailed genomic sequencing and clinical data, IRB review may be warranted to ensure that any restrictions in the original consent are respected, as well as to help protect the privacy of persons whose data are studied (source).

 For research projects that analyze detailed genomic sequencing and clinical data, IRB review may be warranted to help protect the privacy of research participants.

Direct-to-consumer personal genome tests

Dr. McGuire has also studied ethical issues regarding direct-to-consumer (DTC) personal genome testing marketed on the Internet. Dr. McGuire and colleagues conducted the first study of public attitudes toward the use and clinical integration of  DTC genomic tests. She has also examined ethical and legal issues associated with offering genomic tests directly to consumers. Dr. McGuire has analyzed how follow-up tests and treatment based on DTC results, most of which have unproven clinical value, may raise health-care costs without providing a clear medical benefit. She has also studied legal and regulatory issues related to the provision of genetic testing to consumers without the involvement of a licensed healthcare professional (source and source).


Current Research on Whole Genome and Whole Exome Sequencing

Advances in technology and the rapidly falling cost of DNA sequencing has made it feasible to offer whole genome sequencing (WGS) and whole exome sequencing (WES) to patients in clinical settings. Dr. McGuire and her research team are participating in studies of how best to integrate WGS/WES into clinical care and the ethical and psychosocial impact of doing so.

The Greenwall Faculty Scholars award gave Prof. McGuire the time to write and publish articles on the ethical and policy implications of rapid developments in genomic research and the empirical studies she was carrying out, such as her study of consent forms regarding sharing of genomic data.