Contributed Commentary By Helena Judge Ellis
September 7, 2017 | In the field of biobanking, especially when broad consent is obtained, providing biospecimen-derived research results to participants is a complex and evolving issue. As a participant, I would welcome, if not expect, the opportunity to receive relevant test results deemed vital to my health. But as a scientist, I know the issues are multifaceted and spawn legal and ethical dilemmas for the researchers, the participants and their families. We must remember the context under which these results are generated and that the objectives and responsibilities in the research realm are not the same as in the clinical realm.
Discussions tend to focus on issues such as “clinical validity” (whether the analysis was performed in an accredited laboratory); “clinical utility” (whether the risk for the disease has important health implications); and “actionability” (whether there is a proven therapeutic or preventive intervention available). The requirement for “clinical validity” is clear—the test or analysis must be conducted or validated in a lab that is regulated by the Clinical Laboratory Improvement Amendments (CLIA). But within the context of “clinical utility” and “actionability” there are nuances that are a matter of judgment.
The field of genetics is moving rapidly and it is challenging for doctors to keep up with advances. Recent studies indicate that many doctors do not understand the clinical implications of genetic results, and they lack the expertise necessary to incorporate results into treatment decisions (DOI: 10.1200/JCO.2016.71.6480). Unfortunately, genetic counselors may not be readily available nor integrated into the participant’s healthcare team. Even if the results meet an actionability threshold and a participant consents to receive the results, it’s commonly accepted that they should still have the right to change their mind at any time.
How, What, When, Who and for How Long?
What results to return, when to return them, and the manner in which to return them are decisions every biobank principle investigator struggles to thoughtfully make. I think we can agree that it would be unacceptable for a researcher to send you a thumb drive in the mail, with your genetic sequence on it and consider it an ethical and responsible way to return results. Some researchers have chosen to return actionable results to the participant’s doctor, and then leave it up to her to handle the situation with the participant. But which doctor? The primary care doctor or their orthopedist? The OBGYN or the dermatologist? A patient may be seen for any number of reasons and may see any number of healthcare providers. For biobanks that have “front door” consent, in which all patients are asked to participate in the biobank, it is feasible that a patient is consented when seen transiently, for a minor issue, like a sprained ankle. Doctors change institutions, move, and retire.
For biobanking studies in which samples are typically banked in perpetuity, is the researcher required to plan ahead 5 years, 10 years, and beyond to be able to fulfill the participant’s wishes regarding returning results? And what of the investigators’ responsibility related to the period of funding? Is it the investigator’s job to keep an up-to-date contact information for each participant? What constitutes a reasonable effort when trying to track someone down in order to give them results? One letter? Two? An email? A phone call?
Receiving Value: The Participants’ Perspective
These are challenges to surmount in providing validated research results to participants, but more and more participants are expecting to benefit from their participation and even serve as partners in the research design. The desires of the participants themselves are critical in reaching feasible and satisfactory solutions. How do we bridge this gap between research and Precision Medicine, while respecting the contribution of the participants and giving them something of value in return?
As part of planning for the All of Us Research Program (President Obama’s Precision Medicine Initiative), researchers at Vanderbilt University recently conducted pilot studies to obtain participants’ views on receiving research results. In more than a dozen focus groups, participants rated the type of information that would have value if given to them. Researchers learned that many things influence an individual’s choices, including their age, gender, race, culture, and their health status. Other reported important factors reported are the perceived risks and benefits of receiving results and whether community resources, such as access to professional help is available to the participant. The investigators of the study concluded* that the focus of discussions should shift from “return of results” to “return of value” and identified resources required from both the participants and the clinician’s perspective.
National Academies to Provide Guidance
This year, the Health and Medicine Division of the National Academies has begun to review and evaluate evidence concerning the return of individual-specific research results to individuals, including the value, benefit and harm to the individual participating in the research and to society. The meetings are open to the public and comments are sought. I look forward to their report and hope that recommendations regarding significant issues such as the value of a doctor who cares, access to a genetic counselor, and the availability of insurance are forthcoming.
*Editor’s Note: Joshua C. Denny, M.D., MS, of Vanderbilt University will serve as a keynote speaker at the 2017 Leaders in Biobanking Congress in Nashville, Tennessee, October 25-27. His talk is titled “A Brief Introduction to the All of Us Research Program”. For more information visit http://www.biobankingcongress.com/.
Helena Judge Ellis is the founder and Managing Director of Biobanking Without Borders, a consulting company providing biobanking expertise through times of institutional transition, development and growth. She has nearly 30 years’ experience in human subjects’ research gained at Harvard School of Public Health, Brown University, and Duke University with the last 16 years focused in biobanking. She is an experienced professional and subject matter expert in biobanking best practices, with extensive experience in the field of clinical research biobanking, informatics, standard terminology, ontology, and the ethical, legal and social issues related to biobanking. She can be reached at helena.ellis@biobankingwithoutborders.com.