THOMAS MAY
population-level testing of medically actionable gene- disease associations. As of fall 2022, more than 6,000 individuals partici- pated in the population cohort. Participants completed an in-depth family health history questionnaire and received genetic testing that looked at 59 genes deemed actionable by the American College of Medical Genetics (ACMG). HudsonAlpha genetic counselors reviewed the personal and family health history questionnaires and triaged the individuals into disease risk categories. After comparing individuals with a high-risk family history report and those with a positive genetic testing re- sult, researchers noticed a discordance between reported risk and genetically identified risk. There was a percentage of individuals with high-risk family history reports that did not have positive genetic testing results. This did not surprise researchers because genetic testing is limited by the number of gene-disease associations validated by the field, whereas family health history reflects a wide range of heritable conditions. There is obviously great power in having a robust family health history, but what about individuals who do not have access to such information? Adoptees, individuals who are estranged from their families, children of gamete donation, and children from families where the paternity is
unknown are all groups of individuals who might not have the benefit of a robust family health history. Could genetic testing help these individuals learn more about their personal health? May is a member of the Genomic Family History Project consortium that aims to create guidance concern- ing the use of genetic testing to fill gaps in family health history for adopted persons and to recommend best practices in these areas. The consortium comprises experts in genetics, bioethics, adoption psychology, law, pediatrics, and other stakeholders in the adoption com- munity working together to develop best practices related to genomics and adoption. They are working to develop guidelines surrounding the types of genetic tests and the most appropriate age for such testing to occur for adop- tees. Their goal is to provide a set of best practices that will allow adoptees to fill in the gaps in their family health history without the unnecessary stress of potential false positive genetic testing results. The group primarily focuses on genetic conditions that generally manifest at ages when routine screening does not occur, like Lynch syndrome, for example. Individuals with the Lynch syndrome genetic variant are generally diagnosed with colon cancer before the age of 50. So testing individuals who lack knowledge of their family health history for Lynch syndrome before this critical age would allow them to obtain earlier colonoscopies should they carry the genetic variant. The consortium held a symposium in
2021 to discuss several issues related to genetic testing for adoptees. One work- ing group determined that what, when, and how genetic testing is facilitated and results are returned is a person- al decision for each adoptee. A second group concluded that the primary focus of guidelines on gene panels for adopted persons should be genetic information for which adopted persons experience health inequity compared to non-adoptees. Above all else, they stressed the importance that adoptees and adoptive parents understand the power and limitations of genetic test- ing and the information gleaned from it. ■
(l to r) Chris Powell, Tom May, PhD and Sarah Sharman, PhD, sit down to discuss the importance of genetic screening on the Tiny Expeditions podcast.
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RESEARCH REPORT
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