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Counsyl's 1M Genetic Screens Underscore Popularity of Testing

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How the results affect critical decisions about reproductive health and hereditary cancer risk.

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Over the first decade of its life, the genetic screening and counseling company Counsyl has proved to be quite the contender in a space rife with lofty aspirations and ever-increasing competition. The latest step on Counsyl’s ascent: Its number of performed genetic screens for reproductive health and hereditary cancer risk has exceeded 1 million.

The company broke the news this week, calling it a “significant milestone” underlining “the increasing recognition of the critical value” of genetic health screening for women, Counsyl’s target market, according to the announcement. Moreover, the landmark reinforces the growing power of the genetic testing industry, which has blossomed in recent years on both the healthcare professional and consumer sides.

“As a doctor, I’m thrilled by this achievement because it means that patients have received crucial information that can help guide them in important decisions for themselves and their families,” James Goldberg, MD, Counsyl’s chief medical officer, said in a statement. “While we continue to make incredible progress, we have a long way to go until women and their families are aware of the availability and utility of genetic screening, but I am confident that we will soon make this a routine part of patient care.”

Counsyl offers 3 types of genetic screens: Foresight Carrier Screen, Prelude Prenatal Screen, and Reliant Cancer Screen.

Foresight enables couples who want to have a child to identify diseases their offspring might inherit, pinpointing more than 2500 couples at risk, 86% of whom were likely to have gone undetected, according to the company. Counsyl’s Prelude Prenatal Screen helps women understand their child’s odds of having a condition like Down syndrome and has pinged roughly 3000 risk cases and brushed back more than double the number of false positives. The Reliant Cancer Screen measures women’s chances of developing breast, ovarian, colon, and pancreatic cancer, a move that has enabled 3200 women to “pursue additional cancer screening or preventative measures,” according to Counsyl.

Ramji Srinivasan, MS, MBA, the company’s CEO, celebrated the milestone, noting the thousands of physicians and hundreds of thousands of patients who have turned to Counsyl for guidance.

“It’s the highest form of recognition we can imagine: Our patients have trusted Counsyl now over a million times,” Srinivasan said.

Just a few months ago, Counsyl earned $80 million in funding from the life sciences firm Perceptive Advisors, which touted the genetic screening organization’s potential to lead the industry and continue to grow. That injection brought Counsyl’s total funding to $237.8 million, according to the start-up tracker Crunchbase.

The role of genetic screening in medicine is slated to keep mounting. More and more, patients are seeking out the tests and bringing the results to their physicians, according to experts. The only question that remains: How quickly will Counsyl and its competitors hit the next major milestone?

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