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LabCorp's Enlighten Health Genomics to Launch Diagnostic Exome this Year; Expertise from Duke

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This article has been updated to reflect that Enlighten Health Genomics collaborates with geneticists at Duke University and elsewhere.

NEW YORK (GenomeWeb) – Laboratory Corporation of America said last week that it is stepping into the diagnostic exome sequencing testing market this year through a new business, Enlighten Health Genomics.

The new unit is part of the company's Enlighten Health division, which has been offering providers and patients healthcare services such as genetic counseling, healthcare cost analysis, clinical decision support, and health monitoring. Enlighten Health Genomics will be the first within the division to offer a laboratory test.

Through its scientific advisory board, Enlighten Health Genomics is collaborating closely with a number of genetics experts, including David Goldstein, director of the Center for Human Genome Variation and a professor at Duke University, who will chair the SAB. Tom Kaminski, the general manager and associate vice president of the new business, previously worked for the Duke Institute for Health Innovation and the Duke Clinical Research Institute, and is a former director of oncology sales and marketing at LabCorp.

"We were looking to combine the infrastructure, reach, capabilities, and scale that LabCorp brings" with the expertise of geneticists in order to offer genome-wide diagnostic services and help drive down the cost of such testing, Kaminski told Clinical Sequencing News.

Later this year, Enlighten Health Genomics plans to launch ExomeReveal, a diagnostic exome sequencing testing service that will be available throughout the US. The company expects the test will initially mainly be ordered for pediatric patients with suspected genetic disease that is either undiagnosed or genetically unresolved. "But it's also very likely that it will end up being used in a variety of other settings, even adult settings," said Goldstein, for example to replace ever-growing gene panels.

Pricing and turnaround time for ExomeReveal have yet to be finalized, but the company will try to keep prices low in order to encourage wide adoption of the test, and it will offer "competitive" turnaround, Kaminski said.

While diagnostic exome sequencing is currently not widely reimbursed by health insurance, the company will offer preauthorization services to patients and their families, which "is going to be an important component to the offering," he said. As part of LabCorp, Enlighten Health Genomics can also "leverage the existing large base of managed care contracts that we have," he added.

ExomeReveal will initially be performed in an existing LabCorp laboratory in Research Triangle Park, NC, that has experience with advanced genetic tests using next-gen sequencing. The firm does not disclose the exome capture method or sequencing platform it employs for the test.

The test covers all 20,000 or so protein-coding genes. Of note, it will ensure reliable coverage for more than 6,000 of those genes that the company has identified as being clinically significant. To that end, it supplements coverage for more than 2,000 genes that are not covered well by the standard exome kit, a strategy that has also been employed by others, for example Emory Genetics Laboratory.

According to Goldstein, to top up coverage, additional baits will be added both for genes that have been associated with disease as well as for several hundred genes that have not been linked to disease but are suspected to be disease-causing because, for example, they show little variation in the human population.

With the help of its advisors, Enlighten Health Genomics is in the process of building its bioinformatics capabilities and hiring staff for analyzing and interpreting the test results.

"Right now, there is a lot of variability in the way that diagnostic whole exomes are performed and interpreted, and it would be clinically beneficial if there was more standardization," Goldstein said. He and his colleagues will make sure the company stays updated on new interpretation methods developed by the research community, he added.

Members of the SAB will also review exome test results and enable interested patients and their families to enroll in research studies. "There is often interesting biology to be done, and sometimes you need to do research to actually determine what the right diagnosis is," Goldstein explained. Such studies "would make for ultimately a better offering for our patients."

Enlighten Health Genomics will face competition from existing providers of clinical exome tests – both academic and commercial ones – such as Ambry Genetics, GeneDx, or Baylor College of Medicine. But the unit hopes to benefit from LabCorp's existing customer base and the fact that ExomeReveal will be "another item they can conveniently order through this existing channel," Kaminski said.

Over time, Enlighten Health Genomics' test menu "will continue to evolve," and whole-genome testing would be "a logical next step," he said, but for now, his team will focus on the launch of the exome test.

ExomeReveal adds to other NGS-based tests LabCorp is already offering through other units, including the GeneSeq Cardio familial cardiac disease panel, the IntelliGen tumor analysis panel, and the InformaSeq Prenatal noninvasive prenatal test.

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