TRANSPERS Finds that Cost-Effectiveness of Most Clinically Actionable Genetic Findings that ACMG Recommends for Return Has Not Been Evaluated In Economic Studies

Following the publication of the American College of Genetics and Genomics (ACMG)’s recommendations for returning clinically actionable results from Whole Genome Sequencing, TRANSPERS researchers conducted a scoping review of the economic evidence on detecting these mutations. Identified studies addressed fewer than one-third (7 of 24; 29%) of the ACMG conditions. The cost-effectiveness of screening in the general population was examined for only 2 of 24 conditions (8%). We concluded that the cost-effectiveness of most individual genetic findings that the ACMG recommends for return has not been evaluated in economic studies or in the context of screening in the general population. The manuscript was published online 5/21/2015 in Genetics in Medicine.


Douglas MP, Ladabaum U, Pletcher MP, Marshall DA, Phillips KA. Economic Evidence on Identifying Clinically Actionable Findings with Whole Genome Sequencing: A Scoping Review. Genetics in Medicine Genet Med. 2015 May 21. [Epub ahead of print].