Lucia L. Lee, Senior Director of Media Relations & Public Affairs
Mount Sinai Health Systems Press Office
Sema4 Partners with Helix to Launch CarrierCheck™: A New, Easy Way for Consumers to Access a Genetic Screen for 67 Hereditary Diseases
Helping individuals discover how their DNA may affect their future children
Newswise — STAMFORD, Conn. and SAN CARLOS, Calif. — July 24, 2017 — Sema4, an interdisciplinary health information company focused on empowering people to take charge of their health and data, today announced the launch of CarrierCheck™, a simple saliva-based test that provides individuals with a snapshot of how their DNA may affect their future children. CarrierCheck, the only carrier test that screens for 67 conditions that can be ordered by consumers online, was developed in collaboration with Helix, a personal genomics company that today launched the first online marketplace for DNA-powered products.
“Sema4 and Helix are perfectly aligned in their missions to help consumers gain greater access and understanding of their personal genomic data,” said Sema4 CEO Eric Schadt, PhD. “We are excited to launch CarrierCheck, our first product on the Helix platform, to empower consumers with the understanding of their own DNA and gain insights useful to their future family planning.”
While many companies, including Sema4, currently offer physician-ordered carrier screening tests, CarrierCheck stands apart in providing individuals with an online ordering pathway to a genetic test with easy-to-understand results that can reveal an individual’s probability of being a carrier for any of the 67 hereditary conditions tested— including cystic fibrosis, sickle cell disease, and polycystic kidney disease.
The process is simple: A consumer purchases CarrierCheck on helix.com and is then directed to the Sema4 website to create an account and complete a brief health history questionnaire. A physician from Sema4’s partner network reviews the health history to ensure CarrierCheck is appropriate for the individual. Once approved, a saliva collection kit is mailed to the consumer. The saliva sample is then sent to Helix’s CLIA- and CAP-accredited Next-Generation Sequencing lab, where Helix sequences the DNA and securely stores it for the customer. The portion of genetic data relevant to CarrierCheck is delivered back to Sema4 for analysis. Each customer can track their test and then view their personalized CarrierCheck report via their online Sema4 account, and genetic counseling services are also available to help customers understand their reports.
“We have been working with the Sema4 team since before their spinout from Mount Sinai, and we are proud to be working with a partner that is committed to pairing clinical-grade interpretation with our high-quality sequencing,” said Justin Kao, Co-Founder and SVP of Helix. "Carrier screening is one of the most well-known and sought after types of DNA tests, and we are proud to feature CarrierCheck in our marketplace to provide people with an accessible carrier screen that also offers genetic counseling support.”
Helix’s proprietary technology, called Exome+, reads every letter of all 22,000 protein-coding genes in your body, which produces 100 times more data than most consumer genetics companies. CarrierCheck is available to purchase for $199 plus a one-time cost of $80 for the Helix DNA kit for new customers. With Helix, consumers only need to get sequenced once to access CarrierCheck and other products on the Helix marketplace. CarrierCheck and the Helix DNA kit are now available for purchase on the Helix website.
Sema4 is an interdisciplinary health information company that is committed to providing open access to data and creating practical tools that help patients, clinicians, and researchers better predict health trajectories. Formerly the Mount Sinai Genetic Testing Lab at the Icahn School of Medicine at Mount Sinai, Sema4 is constructing a more comprehensive picture of health by combining a wealth of clinical experience that informs the answers that patients and providers are seeking, the world-class academic research that illuminates new directions, and the pioneering information science that puts all the pieces together. And we are sharing the data so each patient’s journey helps everyone complete the greater picture.
Helix is a personal genomics company with a simple but powerful mission: to empower every person to improve their life through DNA. We’ve created the first marketplace for DNA-powered products where people can explore diverse and uniquely personalized products developed by high-quality partners. Helix handles sample collection, DNA sequencing, and secure data storage so that our partners can integrate DNA insights into products across a range of categories, including ancestry, entertainment, family, fitness, health and nutrition. From profound insights to just-for-fun discoveries, Helix is here to help people live a fuller life. Helix is headquartered in the San Francisco Bay Area, and has a CLIA- and CAP-accredited Next Generation Sequencing lab powered by Illumina (NASDAQ:ILMN) NGS technology, in San Diego. Helix was created in 2015 with founding support from Illumina, its largest shareholder. Learn more at www.helix.com.
Helix, the Helix logo and Exome+ are trademarks of Helix Opco, LLC. All other trademarks referenced herein are the property of their respective owners.