ELSI Journal Club Resources - March 28, 2025
Session’s Featured Paper: Opportunistic genomic screening has clinical utility: An interventional cohort study
Date and time: Friday, March 28, 2025 | 12pm ET US / 9am PT US
Featured Author: Yvonne Bombard, PhD
Discussant: Jonathan Sanford Berg, MD, PhD
Moderator: Paul S. Appelbaum, MD
CERA Representative: Sandra Soo-Jin Lee, PhD
Staff: Ashlin Amano, Faryn Fairweather, David Lamb, & Grace Morris
Biographies
Featured Author: Yvonne Bombard, PhD, is a genomics health services researcher and Scientist at the Li Ka Shing Knowledge Institute of St. Michael’s Hospital, Unity Health Toronto. She is a Professor at the Institute of Health Policy, Management and Evaluation at the University of Toronto and directs the Genomics Health Services Research Program at St. Michael’s Hospital. She sets research direction at national and international levels as Board Member of the American Society of Human Genetics and CIHR’s Institute of Genetics. Dr. Bombard advises on funding recommendations on emerging genetic testing technologies for Ontario. She also shapes genomics health services research as an editor for Genetics in Medicine Open, the leading genetics practice journal. Dr. Bombard was the inaugural recipient of the Maurice McGregor Award for Demonstrated Excellence and Leadership Potential from the Canadian Agency for Drugs and Technologies in Health (CADTH) and also received a ‘Rising Star’ award from CIHR’s Institute of Health Services and Policy Research. She has been awarded a CIHR Foundation grant as an Early Career Investigator, CIHR Maud Menten Early Career Prize in Genetics and recently received Canadian Cancer Society’s early career investigator award for her work and policy change.
Link to Yvonne’s biography: https://jcb.utoronto.ca/people/faculty-affiliates/yvonne-bombard/
Discussant: Jonathan Berg, MD, PhD, is an Associate Professor in the Department of Genetics at the University of North Carolina at Chapel Hill. He also has a clinical appointment in the Department of Medicine, Division of Hematology-Oncology and the Lineberger Comprehensive Cancer Center. Dr. Berg is now a physician and researcher interested in the development and application of genetic tests in patients and their families. The recent revolution in genetic sequencing technology has led to an unprecedented opportunity to investigate the underlying etiology in families with genetic conditions, and yet raises potential pitfalls that must be addressed in order to translate these new technologies into the practice of clinical genomics. He is also an Investigator in the UNC Center for Genomics and Society, which was recently renewed as an NHGRI Center for Excellence in ELSI Research to evaluate the prospect of using genomics to improve the health of adults in the general public.
Link to Jonathan’s biography: https://www.med.unc.edu/genetics/directory/jonathan-s-berg-md-phd/
Resources Shared by the Panel
From Jonathan Berg, MD, PhD:
- Management of Secondary Genomic Findings: A review article describing an approach to clinical evaluation and management of genomic secondary findings, with a focus on practical domains of evaluation, with the goal “to help clinicians translate secondary findings into meaningful recognition, treatment, and prevention of disease.”
- Conceptualization of utility in translational clinical genomics research: A perspective article that describes various ways in which utility is characterized, providing a foundational discussion of how utility has been defined in philosophy, medicine, decision psychology and health economics. This emphasizes the importance of clear definitions in the use of the term when conducting research in genomic medicine.
- AMA Code of Medical Ethics’ Opinions on Disclosing Diagnoses to Patients: Opinion document about physicians withholding “pertinent medical information” and the ethical considerations. While not directly related to genomic data, we are still grappling with the question of whether the data that exists in the genome, whether analyzed or not, represents “pertinent” information and what the limits of that definition would be.
- The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG): A guidance document from the American College of Medical Genetics and Genomics regarding the rights of patients to access their genomic data under the HIPAA Privacy Rule. Along with information about what is deemed the content of the complete designated record set (DRS) for genomic data, the manuscript includes points to consider with respect to the validity of 3rd party analyses and ethical concerns about the analysis of a child’s data.
These articles, taken together, outline some of the current challenges of determining how much of the genome can and should be analyzed and returned in a clinical testing scenario; the journal club manuscript that will be discussed provides some evidence about the usefulness of a broad range of secondary findings, raising the question of whether this information should be routinely sought (with appropriate consent) as part of a comprehensive genome report.
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