New Research Weighs Ethics of Genomic Screening
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About one to two percent of the US population has a genetic variant that can lead to disease if not identified early for intervention. Screening of newborns is standard procedure, with an infant blood sample tested within 24-48 hours. Positive tests lead to medical interventions that can save babies’ lives.
For adults, the picture is much more complex. Genetic screening is not as clear cut to identify causes of disease, and adults may simply choose to not be tested, despite the benefits of testing to society. The public health and ethical impacts of genomic screening are the focus of a new paper co-authored by the School of Public Health’s Kee Chan, PhD, clinical assistant professor of health policy and administration. “A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults” was published by the Genomics and Population Health Action Collaborative, part of the National Academy of Medicine.
“We need to consider the perspective of all decision-makers, from the individual, society, third payers and healthcare systems,” Chan said. “We have to look at how we count economic value and health outcomes for future generations and for current family members.”
The paper creates a roadmap with two tiers for researchers to use to design, evaluate and implement genomic-based screening programs. The first tier has three criteria: genes with high risk of developing a disorder associated with serious morbidity and/or mortality, well-established and effective interventions or preventions can mitigate the disease or risk and an established base of knowledge about the gene and conditions. The second tier includes genes with less-established knowledge bases and known health conditions and limits to interventions available.
Chan and her co-authors recommend genomic screening take place at a hospital setting where public health practitioners can evaluate the cost and benefits of the effects on health care. The ethical issues surrounding screening do not have readily available answers. If individuals do not have any sort of duty or mandate to be screened, the cost of treatment over a lifetime may rise, as with burdens to health systems.
Convincing healthy adults to participate in screenings has practical challenges. The paper recommends building channels for participants to receive regular updates from their own screenings through an app, to create stronger links between genetic results and intervention options.
“We’re hoping to provoke discussion on how we might use genomics to create effective public health interventions while respecting individual rights to health and protecting public health,” Chan said. “There is no one-size-fits-all solution for these ethics issues, but we hope this roadmap will guide researchers, clinicians and public health professionals to consider all these factors.”