Return of results

A report from the NBC affiliate in Boston sheds light on an aspect of mail-in DNA kits that may surprise some users: when you sign the paperwork to obtain the results, you're often granting a "perpetual, royalty-free, world-wide, transferable license" for the data. The company in this example is Ancestry, but in an interview Glenn Cohen of Harvard Law School's Petrie-Flom Center noted "that kind of language is probably buried into the informed consent or the forms you sign almost every time you've donated blood or had a blood test." In a statement, Ancestry said they will "not share DNA data with third party marketers, employers or insurance companies," and they allow users to delete their DNA results and/or ask the company destroy the sample from which the results were derived. They also store your DNA without your name. However, these policies are not included in the contract users of Ancestry DNA are required to sign. Consumer protection attorney Joel Winston is quoted in Slate saying “Even if you’ve never used Ancestry.com, but one of your genetic relatives has, the company may already own identifiable portions of your DNA.” Issues related to shared family genomics and privacy have been explored by Consortium Chair Susan M. Wolf and her co-investigators, resulting in a major symposium on the subject. 

Consortium Chair Susan M. Wolf, JD, lectured yesterday at Boston University's School of Public Health. Her topic was the current status of legal and ethical guidelines, as well as the development of best practices, related to translational genomics – issues given greater urgency in light of the federal Precision Medicine Initiative, which launched last year. For more than a decade, Prof. Wolf has led groundbreaking research on return of results (RoR) from genomic testing to research participants, patients, and their families. In her talk at Boston University, she delved into the public health implications of RoR and identified areas needing further study, including the blurring of boundaries between research and clinical applications of genomic scans; difficulties with properly interpreting gene variants; and the need to augment unrepresentative or inadequate data sets to insure they represent well vs. unwell populations and reflect gender and ethnic diversity. Video of the lecture and the following Q&A can be viewed here.  

The latest issue of the Minnesota Law Review features an article growing out of work by Legal Project Assistant Emily Scholtes on the Consortium's NIH-funded grant, Disclosing Genomic Incidental Findings in a Cancer Biobank. The article is entitled "Incorporating Cost into the Return of Incidental Findings Calculus: Defining a Responsible Default for Genetics and Genomics Researchers." Ms. Scholtes has collaborated with Consortium chair Susan M. Wolf, JD, on a number of projects; she is a 3L at the University of Minnesota Law School, and is also editor-in-chief of volume 100 of the journal. 

Last week's Journal of the American Medical Association (JAMA) includes a paper from the Electronic Medical Records and Genomics (eMERGE) Network that presents important new information on the interpretation of gene variants. Using a Big Data approach to electronic health records, eMERGE found evidence that having a potentially harmful genetic variant for two life-threatening disorders does not always translate into developing the actual diseases. An article in STAT explores the significance of the eMERGE findings, featuring short essays by three renowned scholars: Ellen Wright Clayton of Vanderbilt University, Michael Murray of Geisinger Health System and Consortium chair Susan M. Wolf. In her piece, Wolf discusses the JAMA paper in the context of recommendations on return of results regarding incidental findings by the American College of Medical Genetics (ACMG); she previously published an article on her concerns with those recommendations in the Annual Review of Human Genetics. On a related note, the Consortium hosted Prof. Rex Chisholm, PhD, of the eMERGE Network last spring; you can view his lecture here. 

Proposed new revisions to the Common Rule on research with human participants, which governs federal policy and regulations, include recommendations resulting from a major, NIH grant led by the Consortium. The goal of the revisions is to modernize and strengthen the Common Rule in response to dramatic changes to research over the past 30 years, including the emergence of genomics. The proposed rules cite scholarship, led by Consortium Chair Susan M. Wolf, offering guidance to oversight bodies regarding the return of individual research results to participants. Read the recommendations that sparked the proposed policy here. 

An NIH-funded, blue-ribbon project group has just published the first consensus recommendations on a question that has vexed researchers for serveral years: Should researchers share an individual study participant’s private results with family members who may share a genetic risk? A new special issue of the Journal of Law, Medicine & Ethics grapples with these real-world dilemmas and presents recommendations to guide researchers confronted with them. The symposium is an outgrowth of a multi-year National Institutes of Health (NIH)-funded grant and was edited by the grant's principal investigators: Susan M. Wolf, JD, University of Minnesota; Barbara A. Koenig, PhD, RN, University of California, San Francisco; and Gloria M. Petersen, PhD, Mayo Clinic College of Medicine. Prof. Wolf says, “What makes these issues so challenging is current bioethics, law, and research rules focus on protecting individuals, but genetics is about families.” The guidelines are the beginning of an important, national policy conversation, one that will have a major impact on the future of genomics in U.S. health care. View a PDF of the consensus recommendations here.