Researchers at Rutgers and the Robert Wood Johnson School of Medicine found that pan-ethnic, expanded genetic disease carrier screening identifies a significant number of additional mutations in an Ashkenazi population that would not have been picked up if screening was limited to only those genetic conditions highly recommended, or frequently offered, for this ethnic group.
In a retrospective cohort study, 81 patients, students identified through an outreach program at Rutgers University Hillel, underwent genetic testing with expanded carrier screening. Thirty-six individuals (44.4%) carried at least one disease mutation, with seven people carrying two disease mutations, and one carrying three mutations.
The mutations screened for were categorized in three ways based on an ACOG (American College of Obstetricians and Gynecologists) committee opinion: the four conditions for which screening is strongly recommended in the Ashkenazi population (Tay Sachs, Cystic Fibrosis, Familial Dysautonomia, Canavan Disease); fourteen conditions for which testing is frequently offered to Jewish populations including the four above for which screening is strongly recommended; and a broader array which included the 14 recommended and offered screenings plus screening for additional conditions not specifically associated with the Jewish population.
Forty-five total mutations were found in the 36 affected individuals. Of these, 16% of the mutations were part of the strongly recommended screening; 44% were part of the frequently offered screening; and 56% of the mutations identified were not part of a screening recommended in this population.
“The Jewish community is very aware of the risks of specific genetic disorders that might affect their children. Making expanded carrier screening available will reduce the likelihood that parents will be surprised by an unanticipated genetic risk and will help more people in the community have healthy children,” Catherine Racowsky, PhD, President-Elect of ASRM, noted.
P-614 Dolitsky et al, “Importance of Expanded Carrier Screening in the Ashkenazi Jewish Population”
ASRM is a multidisciplinary organization dedicated to the advancement of the science and practice of reproductive medicine. The Society accomplishes its mission through the pursuit of excellence in education and research and through advocacy on behalf of patients, physicians, and affiliated health care providers. The Society is committed to facilitating and sponsoring educational activities for the lay public and continuing medical education activities for professionals who are engaged in the practice of and research in reproductive medicine. www.asrm.org