Genomic sequencing and molecular diagnostics are becoming a global business. At the recent American Society of Human Genetics meeting, dazzling technologies for reading genetic code were on display—promising faster, cheaper, sleeker.
Nevertheless, it’s become clear that the ability to determine someone’s DNA or RNA sequence doesn’t automatically translate into useful diagnostics or even actionable information. In fact, the findings are often confusing and hard to interpret, even by physicians.
That’s where academic-industry partnerships can flourish—tapping the deep expertise of medical research centers to bring clinical meaning to sequencing findings. Yesterday, Boston Children’s Hospital and Life Technologies Corp. announced a new venture with a great list of ingredients: fast, accurate, scalable sequencing technology—Life’s Ion Proton® Sequencer—but also research and clinical experience in rare and genetic diseases, bioinformatics expertise to handle the big data, and the medical and counseling expertise to create meaning from the results.
That means that when sequencing flags an unusual genetic variant, the data can be crunched and cross-referenced with prior research findings to see if that variant is a plausible cause of the disease, or just one of many normal variants we all carry. Other patients with similar or related conditions—at Boston Children’s or a collaborating institution—can be offered testing for the variant to validate and add context to the findings. We can model the genetic defect in animals like zebrafish to understand how it causes disease and how its effects might be countered with drugs or perhaps gene therapy.
And finally, the result can be packaged as a standard, clinical-grade test that we can offer to children and adults around the world.
Boston Children’s is excited to hold a majority stake in this new venture—a for-profit spinoff company called Claritas Genomics. It augments a growing list of industry-academia collaborations around genomics, like the recently announced partnerships between Illumina Inc. and Partners HealthCare and between Beijing Genomics Institute (BGI) and the Children’s Hospital of Philadelphia.
For Life Technologies, the venture is a chance to validate its technology in a real-world clinical setting. For physicians and scientists at Boston Children’s, Claritas is a strategic opportunity to assure access to best-in-world genomic science—with testing time pared from weeks to days. That puts us in a great position to partner with other academic centers to share data—especially important for rare diseases where large numbers of far-flung patients are needed to discover genetic markers.