Return of results

The National Academies of Sciences, Engineering, and Medicine have released a new consensus report on returning individual research results, which offers a process-ori­ented approach that considers the value to the participant, the risks and feasibility of return, and the quality of the research laboratory. The committee that created the report was chaired by Jeffrey R. Botkin (University of Utah School of Medicine) and also included Wylie Burke (University of Washington), Vanessa Northington Gamble (George Washington University), Amy L. McGuire (Baylor College of Medicine) and Consuelo H. Wilkins (Vanderbilt University Medical Center and Meharry Medical College), all of whom are Consortium collaborators. Prof. Wilkins is on the planning committee and will be speaking at our forthcoming conference, Law, Genomic Medicine & Health Equity: How Can Law Support Genomics and Precision Medicine to Advance the Health of Underserved Populations? Learn more about the conference here. 

Nature News and Comment​ has just published an article about an National Institutes of Health (NIH)​-funded study on gene expression that's intended to create "a 'Google Maps' of the body, according to Kristin Ardlie of the Broad Institute of MIT and Harvard​. The study, known as GTEx, is collecting data from the tissues of deceased donors and has the goal of plugging "a gap in the search for the genetic origins of disease." Laura Siminoff, a bioethicist at Temple University​, has studied whether the families of donors truly understood the possible implications of participating in the study, and suggested that "some form of genetic counseling should be made part of the informed consent process for similar projects." Regarding the lack of a plan to return GTEx results to families, Consortium Chair Susan M. Wolf noted in the article, “'A standing policy of simply "we will not return results" is becoming less and less common.' She noted that studies such as GTEx should plan to enable families to be identified if researchers discover, for instance, a mutation that dramatically increases the risk of cancer for relatives who inherit it."

On Wednesday, Sept. 6 and Thursday, Sept. 7 the National Academies of Sciences, Engineering, and Medicine (NASEM) is presenting a workshop and webcast to examine issues related to the return of results to research participants. The committee hosting the workshop is chaired by frequent Consortium collaborator Dr. Jeffrey Botkin, MD, MPH (University of Utah; former chair of the Committee on Bioethics for the American Academy of Pediatrics; former member of the Secretary’s Advisory Committee on Human Research Protections, or SACRHP), and is comprised of 16 distinguished individuals from across the US. The workshop will allow the committee members and the public to hear from research participants and individuals with expertise in research and clinical laboratory practice and institutional policies, applicable federal and state laws and regulations, and communications. Among those presenting is Consortium Chair Susan M. Wolf, JD, who will be speaking about the laws and regulations governing the return of results. Prof. Wolf is one of three Principal Investigators on LawSeq^SM, which is dedicated to mapping and shaping the law of genomics; her co-PIs are Ellen Wright Clayton, MD, JD (Vanderbilt University) and Frances Lawrenz, PhD (University of Minnesota). 

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.