Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine
Issue link: https://clinicalomics.epubxp.com/i/853204
www.clinicalomics.com July/August 2017 Clinical OMICs 27 that to the detection of somatic events on the one hand, and on the other whether you could actually build a test that was capable of interrogating the different classes of genomic alterations all at once." Tackling Cancer Complexity As a research tool, NGS has been a significant force in unlocking the genetic complexity of cancer, due largely to its ability to quickly provide a broad view of the cancer genome. These data, when combined with analytic and bio- informatics tools, have provided researchers and clinicians with a vast trove of information that elucidates the specific genetic mutations and combinations of mutations that drive cancer development. "The reason NGS is getting a foothold as a clinical tool is you can get a specific molecular profile that can tell you what type of cancer it is. It is more sophisticated. It is not just breast cancer, it is all these different subtypes. That, coupled with all the learning we have done over the last 15 years, leads to informed decisions in diagnosis first and then actionable decisions," said Jonas Korlach, Ph.D., chief scientific officer of sequencing company Pacific Biosciences. "That is why I think the medical community is excited, because they have always seen the promise of the genetic information, but it has taken some time to make sense of that and give them something they can act upon." In the case of NGS as a cancer diagnostics tool, what began as the efforts of molecular biologists at large cancer centers and academic medical centers to better understand the genetic underpinnings of cancer eventually led to the creation of in-house lab developed tests (LDTs) to examine collections of genes with the intent of providing better more targeted care to patients. Over time, these innovations trick- led their way to diagnostics companies who test tumor sam- ples against targeted panels of genes in their CLIA/CAP accredited labs, producing results for clinicians on the exact nature of their patients' cancer in less than two weeks. Now, a handful of companies are taking the logical next step of creating FDA-approved, targeted diagnostics aimed at bringing the insights that were once solely the domain of research hospitals to smaller oncology practices and health systems. "The first piece for this is that the body of evidence and the clinical utility for treatment stratification using NGS as a tool has been established," said Dr. Goswami of Thermo Fisher, which in June launched the first FDA-approved com- panion diagnostic for non-small cell lung cancer that screens for multiple drugs (see sidebar page 29). "The second piece, which started with LDTs and research, was validation that NGS could provide accurate and reliable data that could be used in actual clinical decisions. I stress that point because it is not about how many mutations can I find. It is about can I reliably find the mutation that is going to impact the clinical decision?" Foundation Medicine, a company that began by marketing cancer LDTs and testing them in its CLIA/CAP lab is now in the process of transitioning from that model to one that provides FDA-approved diagnostics. Not surprisingly, Dr. Otto sees this next evolution as one that both ensures quality Bainscou / Wickimedia Commons (continued on next page)