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Ambry Expands Offerings with Launch of New Cardiovascular Genetic Testing Panels


NEW YORK (GenomeWeb) – Ambry Genetics yesterday announced that is has launched 10 new cardiovascular genetic testing panels for inherited cardiomyopathies and arrhythmias.  

"We were doing very little in the field of cardiology," Melissa Dempsey, product manager for cardiology at Ambry, who is overseeing the launch, told GenomeWeb. "This is a huge expansion of 10 additional tests and a large increase in panel size."

The homebrew tests, which can find mutations in genes that cause hypertrophic cardiomyopathy, long QT syndrome, and Brugada syndrome, use Ambry's next-generation sequencing capabilities, along with microarrays for deletion and duplication analysis. They include an 84-gene comprehensive cardiovascular genetics panel (CardioNext), hypertrophic cardiomyopathy panels (HCMFirst and HCMNext), inherited arrhythmia panels (RhythmFirst and RhythmNext), and a comprehensive inherited cardiomyopathy panel (CMNext). Multi-gene panels targeted to specific inherited cardiomyopathies and arrhythmias are also available.

The firm took a tiered approach when designing the panels. The "First" tests look at just a few genes that are responsible for a majority of disease cases. For example, among the genes that contribute to hypertrophic cardiomyopathy (HCM), "80 percent of mutations are in two of the genes," Dempsey said. Therefore the HCMFirst panel looks only at those two genes, making it a cheaper and quicker test. Results for this test are available in three to four weeks.

"Our tiered approach allows clinicians to order smaller, targeted panels as needed," Dempsey said. If the first test doesn't return any results, a physician could then order the HCMNext, which includes 25 genes. Finally there is the comprehensive 84-gene panel, which can take 10 to 12 weeks to return results. "This greatly reduces the number of uncertainties families may receive," she said.

The tests can be performed on blood and saliva samples, as well as certain types of previously isolated DNA. Because sudden death may be the first and only symptom of some of these disorders, sometimes the tests have to use DNA obtained post-mortem.

Ambry's new offerings will compete with cardiovascular sequencing panels from GeneDx and Transgenomic. Dempsey said that Ambry hopes to compete on price, thoroughness, and customer service. "Ambry will offer the same type of reports, services, and resources on our website as we've done for our cancer tests," she said.

The institutional rate Ambry charges for all 10 tests falls between $2,200 to $4,490, depending on the size. For example, the two-gene HCMFirst panel costs $2,200 while the 25-gene HCMNext has a sticker price of $3,900. Dempsey noted that some competitors don't offer both NGS and microarray analysis in their prices.

Humberto Huerta, Ambry's director of marketing, added that the firm has contracted with "all the major insurance plans" to make the test available in-network.

Dempsey said that one of the challenges Ambry faces is educating cardiologists about how to use the tests. "Cardiovascular testing results can often be difficult to interpret," she said. "We are just starting to get out to physicians and gen counselors and connect them to people who can help them."

The firm has a team of more than a dozen genetic counselors whose primary purpose is to educate clinicians on the best use of its tests, Huerta said.

The push into cardiovascular genetic testing is just the first move to establish a bigger presence in other genetic testing markets, Dempsey said. "I would anticipate more expansion to come in the future this year and into other fields as well."

In 2013, Ambry launched a genetic test for breast cancer caused by mutations in BRCA1 and BRCA2.