Clinical OMICS

MAR-APR 2019

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

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Page 46 of 51 March/April 2019 Clinical OMICs 45 ing a superior method for chromosome condition screening. NIPT is the most accurate prenatal aneuploidy screening test available. But in the U.S., while 96% of lives are covered for NIPT in high-risk pregnancies, only 46% are covered for average-risk. Worldwide, the health systems of only the Netherlands and Belgium cover NIPT for all pregnancies. Insurance coverage requires the development of high-quality evidence of benefit. It's incumbent upon all of us in the genomics industry to invest in the studies that will deliver this data. As leaders in the technology behind NIPT, Illumina entered into a risk-sharing agreement with a health plan designed to deliver real-world clinical and economic evidence about the impact of implementing coverage of NIPT in average-risk pregnancies. Education Actionable results and robust insurance coverage are nec- essary but not sufficient for a genomic test to be adopted. There will be no impact to care unless physicians offer tests, which requires that they are educated about and comfort- able with genomics. A personal passion of mine are rare and undiagnosed genetic diseases (RUGD), which affect 350 million people worldwide—more than half of them children. The usual path for these kids is months, if not years, of fruitless tests and a diagnostic odyssey lasting on average 5 to 7 years. But we know that sequencing can give up to perhaps half of families answers, and in many cases, direction on treatment. Payers recognize the utility for sequencing in RUGD: 149 million lives in the U.S. are now covered for whole-exome sequencing (WES). There are encouraging signs that pay- ers will eventually go further and cover whole-genome sequencing (WGS): CMS recently priced a CPT code for whole genome sequencing (WGS) and private insurer Pri- ority Health just set policy to cover rapid WGS for acutely ill children. Outside of U.S., the U.K. will start offering WGS for genetic disease patients in 2019, the first national health service to do so as the standard of care. But despite the actionability and coverage of WES for kids with RUGD, uptake is extremely low—we estimate less than 0.3% of covered, eligible kids have had WES. Why? A major issue is that doctors just don't know sequencing is available. Those who do know sequencing is an option may not be comfortable ordering sequencing or interpreting the data that comes with it. As we innovate new tests, it's imperative that those of us in the genomics industry also put effort into educating the clinical community. One way we're working on this is through our collaboration with the Blue Cross Blue Shield Association (BCBSA), in which we are analyzing genomic testing patterns across the U.S. and then using the data to develop educational programs for healthcare providers in areas where there are gaps. We Are Only at the Beginning The health of tens of thousands of people have been posi- tively impacted by genomics, but there are millions more who can potentially benefit. There is so much work to be done. As we push forward to bring the power of genomics to the clinic, we must remember it's not just about faster and cheaper. It's about useful, it's about available, and it's about awareness. Francis daSouza, CEO, Illumina "Insurance coverage requires the development of high-quality evidence of benefit. It's incumbent upon all of us in the genomics industry to invest in the studies that will deliver this data."

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