To make genetic testing clinically useful for non-European groups, we need targeted recruitment, say researchers
As the prices of genetic testing drop and knowledge of what these tests can do increases, more and more people are choosing to have their DNA tested. A limitation to these tests is that even when performed under the direction of a physician, genetic variants can be detected whose roles in disease risk are not fully understood. In a comment published on June 2 in the American Journal of Human GeneticsThe researchers examined how these “variants of uncertain significance” (VUS) may be introduced by the under-representation of certain ancestry groups – as well as ways to reduce their incidence in genetic databases.
“A lot of effort goes into large-scale projects aimed at recruiting diverse segments of the population,” says first author Paul Appelbaum, director of the Center for Research on the Ethical, Legal, and Social Implications of Psychiatric, Neurological, and behavior at Columbia University. “What’s different about our contribution here is the recognition that large-scale recruiting will need to be complemented by more targeted efforts that address group concerns.”
There are a number of practical and ethical reasons that are important to address. Tests that yield a VUS fail to generate clinically useful information. Additionally, although current guidelines discourage clinicians from making treatment decisions based on an SUV, many clinicians and patients may feel compelled to act on them anyway. The discovery of an SUV can lead to anxiety, distress – especially variants of genes known to increase the risk of diseases like cancer – and, in some cases. even drastic interventions like prophylactic surgery.
In this article, investigators focused on particular cultural issues among two ancestry groups, as well as culturally informed ways to address and overcome these issues.
For the first group – the Sephardic Jewish community of New York – they used data collected by the Dor Yeshorim Project, an effort created to reduce the incidence of genetic diseases in the Jewish community, particularly Tay Sachs. The second group was the Silent Genomes Project, an effort housed at the University of British Columbia that aims to reduce health care disparities and improve diagnostic success for children with genetic conditions from Indigenous populations. in Canada.
“Both of these groups have specific cultural reasons for being reluctant to provide genetic data. By working with them to find ways to address their concerns, we can overcome these hesitations,” Appelbaum said.
Appelbaum acknowledges the difficulties in scaling up these types of efforts to reach other underrepresented populations and the lack of a one-size-fits-all approach. “For each of these groups, we need to recognize the reasons for their underrepresentation and work with them to find ways to address those concerns,” Appelbaum said. He adds that it is essential to obtain more funding for targeted recruitment efforts and to develop a governance structure that involves the communities concerned on an ongoing basis.
“Knowing the frequency of variants in the population is crucial,” says Appelbaum. “And given the differences in frequency of variants between population groups and the prevalence of population-specific variants, comparisons with reference data from a specific ancestral group can be crucial. This is true both in clinical and research settings.
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