As noted in the news feature Direct-to-consumer genomics reinvents itself, 23andMe has filed to secure 510(k) clearance for some of its genetic tests, which poses the question of whether a foot in the door at the FDA will increase demand and re-energize the direct to consumer (DTC) genomics market?

FDA approval is undoubtedly an important step, but it will not address the most fundamental bottleneck to growth of the DTC market. The far more fundamental problem to the evolution, growth and value of genomic testing, whether DTC or through a physician-driven model, is the inability to scale the interpretation of these tests and the need to improve, by several orders of magnitude, the speed and quality of interpretation and variant classification.

For decades, clinicians have been running tests of a single gene or a small panel of genes for tightly defined phenotypes. These tests have emphasized clinical validation or confirmation of a clinical hypothesis, and the tests have generally been limited to genetic variation associated with broadly accepted clinical guidelines and benefits. Even so, a small- to medium-sized lab employs five to 10 medical geneticists and pathologists to interpret, score and report on these tests.

As the industry moves to testing with larger gene panels, exomes and whole genomes, and as we target these tests to more complex and multiple phenotypes, the time and complexity of interpreting these tests will grow exponentially.  Add to this the desire to run millions of tests per year, and the interpretation becomes intractable with current solutions. No clinical geneticist can handle the enormous complexity, and no testing lab can hire enough medical geneticists to scale and address the need with currently available solutions.

The bottom line is that for the DTC and molecular diagnostic market to grow much beyond its current state and realize its full potential, the industry needs to develop fundamentally new content and software solutions that deliver many orders of magnitude improvements in the time, quality and cost to interpret and classify genetic variation.

At Ingenuity, we think in terms of comprehensive curation of all known human phenotype variations from peer-reviewed literature and computationally tractable models of biology that allow us to more fully understand the impact of genetic variation on the biological system.

Easy-to-use software that enables clinical geneticists or pathologists to quickly and with high confidence produce test reports with clinical relevance and impact is the solution. Until innovative companies and the scientific community solve this problem, no amount of FDA clarification, sequencing technology improvement or reduction in the cost per test will materially alter the market dynamics. By every estimate this is a daunting task, but science had the ingenuity to drop the price of sequencing faster than Moore’s law over the past 10 years, and now together we need to focus our attention on unlocking the full market and clinical potential by addressing the interpretation bottleneck before it becomes a showstopper.

Jake Leschly, CEO, Ingenuity Systems