As sequencing moves into clinical use, insurers balk
By Julie Steenhuysen
CHICAGO (Reuters) - Aimee Robeson just wants an answer.
Her son, Christian, was born in 2010 with multiple, mysterious syndromes that leave him unable to speak, chew, or walk on his own.
Initial genetic tests failed to provide a diagnosis. Aimee's hopes are now pinned on a new test called exome sequencing that searches all the protein-making genes for glitches that could explain Christian's condition.
Once strictly the domain of research labs, gene-sequencing tests increasingly are being used to help understand the genetic causes of rare disease, putting insurance companies in the position of deciding whether to pay the $5,000 to $17,000 for the tests.
As use of the new technology has grown, a number of insurers, including Blue Cross Blue Shield, have reacted by putting the brakes on reimbursement, according to interviews with researchers, diagnostic experts and insurance executives. Insurers are demanding proof that the results will lead to meaningful treatments among the estimated 2 million Americans with a serious, undiagnosed disease, still an unlikely prospect in the majority of cases.
Genetics experts say that sequencing more than doubles the chances that families get a diagnosis, and saves spending on multiple tests of single genes. Even if no treatment is found, the tests can also end hugely expensive medical odysseys as parents frantically search for the cause of their child’s furtive illness.
Until the reimbursement issue is resolved, some smaller diagnostics players will likely stay on the sidelines, leaving the field to early adopters of the technology such as Ambry Genetics and Bio-Reference Laboratories' GeneDx. And families short on resources like the Robesons will be left scrambling for funding.