We’ve delivered our one millionth screen

​This week we crossed an incredible milestone: we’ve delivered our one millionth screen.
We started Counsyl over ten years ago.  At the time, we were technologists: our goal was to make the genome practical for important decisions.  We stumbled upon carrier screening: offering prospective parents critical decision making tests before or during pregnancy.  We knew that we had hit on a service that had emotional resonance.  We ourselves would get carrier screening before having children, and so we had a good feeling that OBGYNs and prospective parents might feel the same way.

Counsyl Foresight™ Carrier Screen

Since we launched our flagship product – what we now call the Foresight™ Carrier Screen in 2009 – Counsyl has been able to identify >2,500 at-risk couples, 86% of whom would have been missed under conventional screening guidelines.
This means that Counsyl has identified >2,500 couples whose children have a significantly increased chance of being affected by an inherited disease.
Foresight is making a real difference to parents, like Missy and Yan.  Foresight has so much potential to provide critical information to millions of prospective parents.
To achieve that potential, we need to make ​ordering for a couple MUCH easier, and make medical policy insurance guidelines broader.  Most insurers’ medical policies for carrier screening ​cover a bare minimum: 23 mutations of Cystic Fibrosis​ and Spinal Muscular Atrophy.  However, we know that this sort of minimalist testing strategy would lead to missing ​the vast majority of affected pregnancies.

“I’m so thankful that we had that information and that we could act on it as soon as Sonya was born” 

– Missy Kvitko, Counsyl Foresight™ Carrier Screen patient

Counsyl Reliant™ Cancer Screen

We expanded our product catalog to include the Reliant™ Cancer Screen, a hereditary cancer screen that we started as a ​two​-gene panel – testing for mutations in BRCA1 and BRCA2, which can significantly increase an individual’s risk of developing breast and ovarian cancer.
We’ve upgraded our panel to include 36 genes, and we’ve identified more than 3,200 patients with an increased risk of developing a hereditary cancer in their lifetime. ​ More than half of those 3,200 positives are in genes other than BRCA1 and BRCA2 – genes like PALB2, which also can significantly elevate a woman’s risk of breast cancer.
​Not only does having this information ​enable patients to take the necessary measures and precautions to decrease their risk of developing cancer, but it also encourages their family members who are at risk of being carriers to be screened as well.  But there’s more work to do! Even though approximately 10% of women in the US should be getting screened for hereditary cancers under today’s health guidelines, more than 90% of eligible women aren’t appropriately identified.
We think it is completely insane that women ​typically ​get offered this kind of hereditary cancer screening only AFTER a cancer diagnosis!  Our effort is to make this kind of hereditary cancer screening routinely offered to eligible women in the OBGYN’s office.

“After I told everyone in my family the good news their first reaction was pure joy. The second was that now we have to get Elizabeth tested”

– Victoria Reynolds, Counsyl Reliant™ Cancer Screen patient

Counsyl Prelude™ Prenatal Screen

When ​we introduced the Prelude™ Prenatal Screen, it was aimed to avoid unnecessary invasive procedures, such as an amniocentesis. Since Prelude’s launch, nearly 3,000 pregnancies have been identified to be at risk for a chromosomal abnormality. When comparing this screen to conventional, first trimester screening, we believe about 7,440 false positives have been avoided for trisomy 21 (Down syndrome) alone!
Prelude uses whole genome sequencing and combines custom algorithms and bioinformatics with individualized expert analysis to ensure that our patients receive reliable results, the first time, as evidenced by our test failure rate of 0.1%, which is among the lowest in the industry. Pregnancy can be a stressful time, and this rate combined with our ability to deliver results in less than 7 days on average, means expectant parents get answers to their questions sooner.

“Getting answers – one way or the other – is a huge relief”

– Lacey O., Counsyl Prelude™ Prenatal Screen patient