Joel DiamondThe nation is entering a new era of affordability for genetic testing and precision medicine focused on genomics. Advancements in technology have led to dramatic decreases in the cost of genomic research, even as an exponential explosion of scientific yield has dramatically accelerated the pace of computational power growth. In 2003, the cost of sequencing the human genome—that is, a person’s full set of DNA—was $3 billion. Today, that process can be done in a fraction of the time and cost less than $1,000. Furthermore, commercial tests that sequence the exome (a portion of the genome) can be performed for a few hundred dollars. Finally, direct-to-consumer tests are dipping below the $100 price point.

Nonetheless, the cost of genetic testing continues to be seen as a barrier to widespread adoption of precision medicine. One of the problems affecting organized medicine is the enormous disparity in laboratory costs. Commercial labs can offer single genetic markers, genetic panels, or the aforementioned exome and genome testing with no consistency in price. The mark-up (i.e., profit margin) often is astronomical. Price transparency, already a hot topic in health care, will be an important consideration as genomic testing becomes more mainstream.

Another significant factor is physician knowledge in this area. Workflows, electronic health record integration, and the need for justification for ordering test are well-established for practitioners’ traditional laboratory ordering. However, rapidly advancing scientific knowledge and announcements of new biomarkers for diseases have left physicians poorly prepared for ordering genetic tests.

With medicine’s move from fee-for-service to fee-for-value, cost analysis for diagnostic testing has become more commonplace. Unfortunately, it will take some time to apply significant outcome studies to some areas of genomics, and often, the ROI is not considered a given.

Ultimately, the most commonly cited barrier seems to be around the payment question. Insurance companies seem to be taking a wait-and-see attitude at present. Certain tests are being covered only after prior authorization review.

An interesting exception is the widespread use of genetic somatic testing of tumors in the field of oncology. This type of testing has side-stepped many of the common objections to genetic testing. It has become a standard part of cancer treatment protocols because of its substantially lower cost compared with the costs of pharmaceutical treatment and other diagnostic testing. Some laboratory companies also are subsidizing costs by selling de-identified data to researchers.

In this changing environment, one thing is certain: As clinicians better understand the incredible benefits of appropriately deployed genomic testing, this technology will see more widespread adoption.


Joel Diamond, MD, is co-founder and chief medical officer at 2bPrecise, Pittsburgh. 

Publication Date: Thursday, October 12, 2017