Return of results

Doctors at a London hospital are being sued "because they failed to tell [a woman] about her father’s fatal hereditary disease before she had her own child," according to the Guardian. "The woman discovered – after giving birth – that her father carried the gene for Huntington’s disease, a degenerative, incurable brain condition. Later she found out she had inherited the gene and that her own daughter, now eight, has a 50% chance of having it. The woman. . .  says she would have had an abortion had she known about her father’s condition, and is suing the doctors who failed to tell her about the risks she and her child faced. It is the first case in English law to deal with a relative’s claim over issues of genetic responsibility." Much of the groundwork for US legal and policy approaches to these complicated issues can be found in a symposium, "Should We Offer Genomic Research Results to a Participant's Family, Including After the Participant's Death?" edited by Consortium Chair Susan M. Wolf, Barbara A. Koenig (UCSF) and Gloria M. Petersen (Mayo Clinic). The symposium grew out of an NIH-funded grant, "Disclosing Genomic Incidental Findings in a Cancer Biobank: An ELSI Experiment," for which Wolf, Koenig and Petersen served as Principal Investigators. 

In an article appearing in the Oct. 12 issue of Science, Consortium Chair Susan M. Wolf and Barbara J. Evans of the University of Houston Law Center sound the alarm about a recent report from the National Academies of Sciences, Engineering, and Medicine. The Academies' report on "Returning Individual Research Results to Participants" makes recommendations on how to share research results and data with people who agree to participate in research studies and calls for problematic changes to federal law. In Science, Wolf and Evans argue that the Academies' recommendations are "rooted in confusion about the law." They maintain that "The Academies' report endorses the idea of participant access to results and data, but then builds daunting barriers. The report rejects established legal rights of access, two decades of consensus guidelines, and abundant data showing that participants benefit from access while incurring little risk. The report too often prefers paternalistic silence over partnership. . . . True progress on return of results requires accepting participants' established rights of access and respecting the value that participants place on broad access to their data and results. The next step is not to build barriers but to promote transparency." Read the entire Science article here. 

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.