Home >> ALL ISSUES >> 2014 Issues >> No surprises—one lab’s approach to costly genetic testing

No surprises—one lab’s approach to costly genetic testing

image_pdfCreate PDF

Elizabeth Silverman

September 2014—Medical practice is no stranger to good things coming from bad, but lest anyone be in doubt, Children’s Hospital and Medical Center in Omaha provides a striking example.

The bad, in this case, was an exorbitant bill for genetic testing delivered several years ago to the parents of a sick child. The family had no idea such an expensive test had been ordered or that their insurance company would not pay for it.

After receiving the bill, the family complained to the hospital, which, instead of just hoping something similar wouldn’t happen again, set out to do something about it.

Deborah Perry, MD, director of the Department of Pathology at Children’s, and the laboratory staff had been interested in studying how the hospital handled genetic testing even before the family’s unwelcome surprise had become known.

“With the volume of genetic testing we saw going out of our lab, we knew we needed to improve the process both from the financial standpoint and from the standpoint of the patients and their families,” Dr. Perry says. “As more and more genetic testing became available for syndromes, we thought we should find a way to make certain that physicians and practitioners were getting the right test.”

They did, and the program they spent just over two years setting up could well serve as a model for others—and be in place elsewhere in three to six months, Dr. Perry estimates. “I think anyone can do this,” agrees Donna Gombold, MT(ASCP), who, with a colleague, created and runs the program.

As knowledge grows about the clinical significance of individual gene variants and genomic structural elements, so too do the number of situations in which genetic testing becomes diagnostically appropriate. Leslie Biesecker, MD, chief the NIH National Human Genome Research Institute’s Medical Genomics and Metabolic Genetics Branch, and Robert Green, MD, MPH, associate professor of medicine, Harvard Medical School, and a geneticist at Brigham and Women’s Hospital, write in the June 19 New England Journal of Medicine: “We anticipate increases in the use of clinical genome and exome sequencing, the key attribute of which—its breadth—distinguishes it from other forms of laboratory testing” (370:2418–2425). While the decrease in the cost of gene sequencing has made its use feasible in a clinical laboratory setting, advances in sequencing technology and informatics have left physicians with an array of complex choices. Among them are whether to sequence the whole genome or exome or just one gene or a few; whether to sequence and analyze noncoding regions, and if so, which ones or how many; and which laboratory’s technology and informatics software will yield the best diagnostic result for each patient. Turnaround times and prices can differ greatly. The variation in the genetic tests themselves and in their execution, costs, and reimbursement may present hospitals, patients, and physicians with something of a diagnostic Gordian knot.

CAP TODAY
X