Although many medical schools are now offering genomic sequencing to patients with rare diseases, insurance reimbursement is still doubtful. The Medical College of Wisconsin has sequenced over 36 whole genome and 400 whole exomes. Baylor College of Medicine has sequenced 3,500 exomes and reported that of 250 cases of whole-exome sequencing, the genetic cause of disease was identified in 28%. The Yale School of Medicine’s DNA Diagnostic Lab sequences 750 whole exomes annually. Companies offering diagnostic-sequencing services include Ambry Genetics and GeneDx. Among insurers, Blue Cross Blue Shield has been the least likely to pay, citing a lack of evidence that sequencing leads to meaningful treatment. Cigna and Aetna are also reluctant to provide reimbursement. Advocates argue that sequencing can replace multiple single genetic tests. Ambry Genetics’s whole-exome sequencing test costs $5,800. Small diagnostic providers are likely waiting to enter the market until issues surrounding reimbursement are clarified.

Source: Reuters