In a study appearing today in, Rady Children's Institute for Genomic Medicine researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized. Of 112 infant deaths evaluated, single-locus genetic diseases were found to be the most common antecedent of infant mortality and associated with 41% of the deaths.
Researchers also found that treatments predicted to positively impact outcomes were available for 30% of these genetic diseases. The implication of the study is that strategies for neonatal diagnosis have substantial potential to decrease mortality during the first year of life. "At least 500 genetic diseases have effective treatments that can improve outcomes, and it seems that undiagnosed genetic diseases are a frequent cause of preventable deaths," said Stephen Kingsmore, MD, President & CEO of RCIGM."Broad use of genomic sequencing during the first year of life could have much greater impact on infant mortality than was recognized hitherto."