Myriad Genetics Blog We’ve delivered our one millionth screen We’ve delivered our one millionth screen January 30, 2018 clinical Counsyl Complete Counsyl Culture Events News Patients Product Reproductive Health 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 Missy and Yan were already pregnant with their first child when they took the Counsyl Foresight™ Carrier Screen. Upon receiving these results, they learned that they are both carriers of mutations that put their child at a 25% risk of hearing loss. With this information in hand they were able to prepare and educate themselves on their options. When their daughter, Sonya, did not pass her initial hearing screen they were able to spring into action and take the steps that were right for their family, ultimately choosing cochlear implants for their daughter. Hear more from Missy and Yan in their own words. 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 Victoria’s mother lost her 5 year battle with breast cancer at age 46. Victoria was only 9 years old, and most of her memories with her mother include her being very ill. Knowing that a history of cancer ran in her family, including an aunt with a hereditary cancer mutation, Victoria lived her life in fear that she, too, would develop a hereditary cancer in her lifetime. Her physician, understanding the way this was affecting her life, suggested she take the Counsyl Reliant™ Cancer Screen. When she received her results, she was relieved to find out that her results were negative. Although she felt personally liberated by these results, she knows that hereditary cancer is prevalent in her family, and ensured that her younger sister, and other family members moving forward, continue to be screened accordingly. Learn more about Victoria’s experience. 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 When Lacey learned she was pregnant, she threw herself into research to ensure that during her pregnancy, she was doing everything she could to ensure her baby was safe and healthy. Taking a non-invasive screen to determine whether her baby was at risk for a chromosomal abnormality was very important to her. When she received her results, not only did she learn that her baby was not at an increased risk, but she also learned she was having a girl! In addition to learning her results, she also qualified for financial assistance from Counsyl, meaning Lacey and her husband could spend less time worrying, and more time focusing on the fun stuff, like picking out their daughter’s name. Learn more about Lacey’s experience. These are real-life patient stories – Counsyl is making a tangible difference in patients’ clinical decisions. THANK YOU to the patients and their healthcare providers who have made this milestone possible. You put your trust in us when it really counted, and that means everything. A special THANK YOU to every Counsyl employee. Without you, Counsyl would just be an idea. -Ramji, Eric, and Rishi