Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza StarkDeborah SchofieldKhurshid AlamWilliam WilsonNessie MupfekiIvan MaccioccaRupendra N ShresthaSusan M WhiteClara GaffPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)
Use of WES early in the diagnostic pathway more than triples the diagnostic rate for one-third the cost per diagnosis, providing strong support for reimbursement as a clinical test.Genet Med advance online publication 26 January 2017.