Counsyl expands affordable genetic screening to BRCA1/2 testing

21 May 2014

A pioneering Silicon-valley genetic testing company has secured major new funding at the same time as broadening the services they offer.


Counsyl began offering low-cost pre-conception screening services to prospective parents, testing them for carrier status for multiple genetic mutations associated with rare diseases; the company says its mission is to give people ‘access to vital information about their bodies to help them confidently make choices about their lives’. Counsyl’s Family Prep Screen is now said to have been used before 2.5% of all US births.


This has now been joined by a new BRCA1/2 testing service, or Inherited Cancer Screen; BRCA1/2 mutations confer significantly increased lifetime risks of breast, ovarian and a number of other cancers. Counsyl began preparing to move in on the US BRCA testing market opened up last year by the Supreme Court decision that Myriad Genetics’ controversial patent on the two gene sequences was invalid, by seeking a Federal Court ruling that their own testing would not infringe on the elements of Myriad’s intellectual property that remained protected by patents.


The company, which has sold more than a quarter of a million Family Prep Screen tests in the last five years, has raised fresh investment worth $28 million, bringing their total investment to a hefty $93 million. The company plans to offer new tests. It is compliant with the relatively strict US regulatory framework for direct-to-consumer genetic testing because tests are offered via medical professionals.


Technology remains at the heart of all their processes, from testing performance through to an iPad app to help clinicians order tests easily. Looking ahead, Counsyl said it is focusing increasingly on the interpretation and curation of genomic data, which co-founder Ramji Srinivasan sagely observes “is the expensive part of the problem” with large-scale clinical genomics.  

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