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Quest Launches Expanded Breast Cancer Risk Testing Service

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Originally published Nov. 10.

NEW YORK (GenomeWeb) – Quest Diagnostics last week launched BRCAvantage Plus, a testing service for gauging breast cancer risk through which patients can learn whether they harbor mutations in BRCA and other genes.

The company will be providing testing to all 50 US states. The newly launched service expands upon Quest's original BRCAvantage test, introduced on the market last October, which only reported whether patients had cancer-associated point mutations, deletions, and duplications in BRCA1 and BRCA2 genes. Through the updated service, Quest will also test for potentially harmful alterations in P53, PTEN, CDH1, STK11, and PALB2.

BRCA mutations show up in 15 percent to 20 percent of patients with inherited breast cancer. Between 3 percent and 4.5 percent of inherited breast cancer patients have mutations in these five other genes.

Doctors can choose whether they want to order a single mutation test or the whole BRCAvantage Plus panel based on a patient's medical and family cancer history. If a patient harbors mutations in BRCA1/2 genes, the doctor can opt for reflex testing on/for? the five additional genes.

Quest designed the testing service to offer doctors a variety of options to limit unnecessary testing and ensure that the testing data doesn't create uncertainty for patients. "With genetic cancer-risk assessment, there is a fine line between providing too much information and not enough," Quest Chief Medical Officer Jon Cohen said in a statement, adding that the genes included in the expanded panel have clinical validation studies backing their use in risk assessment and "align closely with recently released guidelines from the National Comprehensive Cancer Network."

As part of the service, Quest will guide patients to a non-Quest affiliated genetic counselor to answer questions about testing, and will help determine if testing is covered by their insurance plans. After a doctor orders testing, patients can go to one of Quest's 2,200 service centers throughout the US to provide a blood sample for analysis. Doctors can use Quest's own genetic counselors if they need assistance choosing the appropriate test and interpreting results.

According to Quest, its NGS-based BRCAvantage Plus services use next-generation sequencing and multiplex ligation-dependent probe amplification. The tests have analytical sensitivity and specificity of over 99.99 percent, the company claims.

Quest said it checks whether mutations are deleterious, benign, or have unclear significance by cross referencing mutational databases. The company is collaborating with Memorial Sloan Kettering Cancer Center, Mayo Clinic, University of Pennsylvania's Abramson Cancer Center, and the Dana-Farber Cancer Institute to advance knowledge of cancer-linked genetic markers through the Participants in the Prospective Registry of MultiPlex Testing (PROMPT) study.

The academic centers are working with labs that provide NGS-based breast cancer risk testing – Quest, Ambry Genetics, Myriad Genetics, and GeneDx – to collect information from consenting patients who have a pathogenic variant result and store it in an online registry for further investigation. The aim of the study is to gauge the prevalence of pathogenic variants in the population and improve understanding of variants of unknown significance.

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