Sema4 Applies Data-Driven Approach to Expanded Carrier Screening, and Will Soon Utilize Exome Sequencing for Genetic Testing

Sema4 Applies Data-Driven Approach to Expanded Carrier Screening, and Will Soon Utilize Exome Sequencing for Genetic Testing

Powered by the Centrellis™ Health Intelligence Platform, Sema4’s Expanded Carrier Screen with Personalized Residual Risk Will Help Inform Pregnancy Planning Decisions
STAMFORD, Conn.–(BUSINESS WIRE)–#ASRM2019–Sema4, a patient-centered health intelligence company, today announced the launch of Expanded Carrier Screen with Personalized Residual Risk, one of the most comprehensive and highly accurate carrier screening options available, to provide physicians and their patients with enhanced risk assessment analysis designed to inform family planning decisions.

Sema4 also announced it will soon utilize exome sequencing for the majority of genetic tests offered by the company. This new exome testing platform was internally developed by Sema4’s industry-leading clinicians and scientists, and includes thousands of genes identified by medical experts as clinically relevant and actionable.

“With our forthcoming adoption of exome sequencing for a wide array of genetic tests, we are enabling seamless ordering and results for future genetic tests that patients may need across their lifetime, from pregnancy planning to adult disease treatment,” said Eric Schadt, PhD, Founder and Chief Executive Officer of Sema4. “The robust genomic information provided by exome sequencing will be analyzed by our proprietary health intelligence platform, Centrellis, continually updated with the latest insights on a vast number of gene mutations to provide healthcare providers and patients with the most meaningful and actionable insights. This is a key milestone on our longer-term product roadmap to deploy whole genome sequencing when it becomes cost effective to do so.”

All of Sema4’s carrier screening panels, from single gene to 502 genes, will now include Personalized Residual Risk analysis of patient-specific ancestry markers to improve the accuracy and reliability of the results. The next version of Sema4’s expanded carrier screen, delivered via exome sequencing, will include thousands of genes deemed clinically actionable.

“Building on Sema4’s track record as the gold standard in carrier screening, our newly expanded test of clinically relevant conditions will detect more potential high-risk pregnancies than traditional carrier screening by identifying up to 30 times as many carrier couples,” said Lisa Edelmann, PhD, Chief Diagnostics Officer at Sema4. “Our Expanded Carrier Screen with Personalized Residual Risk uniquely incorporates low-pass genome analysis for detection of key ancestry markers to enable the most personalized, high-confidence interpretation available today of disease-associated variants, combined with Sema4’s industry-leading genetic counseling and customer support.”

“Sema4’s online patient portal provides customers carrier screening customers with educational resources on personalized residual risk, the ability to seamlessly track the status of their test, view results, and the option to view their ancestry report,” said Bridget Winders, Senior Vice President and General Manager of Women’s Health at Sema4.

DNA-based carrier screening is recommended by The American College of Obstetricians and Gynecologists to help guide family planning for all women who are pregnant or planning for pregnancy. It is a valuable tool enabling prospective parents to determine their risk of passing certain diseases or disorders on to their children.

About Sema4

Sema4 is a patient-centered health intelligence company founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. Sema4 is dedicated to transforming healthcare by building dynamic models of human health and defining optimal, individualized health trajectories, starting in the areas of reproductive health and oncology. Centrellis™, our innovative health intelligence platform, is enabling us to generate a more complete understanding of disease and wellness and to provide science-driven solutions to the most pressing medical needs. Sema4 believes that patients should be treated as partners, and that data should be shared for the benefit of all.

For more information, please visit and connect with Sema4 on Twitter, LinkedIn, Facebook and YouTube.
Victoria Steiner
[email protected]

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