Market Overview

Sema4 Applies Data-Driven Approach to Develop and Launch New NIPT and Expanded Carrier Screen Tests


Company broadens offerings across the reproductive health journey

a patient-centered predictive health company, today announced the launch
of two reproductive health tests: the new Sema4® Noninvasive
Prenatal Select and an enhanced version of its Expanded Carrier Screen.
These products, developed with an informatics-driven approach using
Sema4's Health Intelligence Platform (SHIP), add to the company's
industry-leading portfolio of tests designed to support providers and
patients from preconception to pediatrics.

Using only a maternal blood sample, Sema4
Noninvasive Prenatal Select
extensively screens the fetal DNA in
that sample for common chromosome aneuploidies, sex chromosome
aneuploidies, and microdeletion syndromes, while also offering the
flexibility to order select components of the test. Built on
cutting-edge technology with advanced statistical modeling, the test
delivers highly accurate results (>99% for common aneuploidies) as early
as nine weeks into pregnancy. This is the only non-invasive prenatal
test (NIPT) offering on the market that routinely screens for trisomy 15
to aid in detection of Prader-Willi and Angelman syndromes. The American
College of Obstetricians and Gynecologists (ACOG) and the Society for
Maternal-Fetal Medicine recommend that all pregnant women are offered
screening or diagnostic testing for fetal aneuploidy.

Sema4 has also updated its Expanded
Carrier Screen
of more than 280 inherited conditions. DNA-based
carrier screening, which is recommended by ACOG to help guide family
planning for all women who are pregnant or planning for pregnancy, is an
important tool that allows people to determine their risk of passing
certain diseases or disorders on to their children. An
informatics-driven approach was used to select the most clinically
relevant genetic variants for inclusion in the Expanded Carrier Screen,
by querying data from publicly available databases in combination with
Sema4's proprietary, curated knowledge base. The resulting Expanded
Carrier Screen uses multiple technologies for robust and accurate
detection of a broad range of genetic variants, including copy number
variation, and is offered with flexible options to allow providers and
patients to choose subsets of genes if the entire panel is not needed.
With the new Expanded Carrier Screen, Sema4 has added full exon
sequencing via long-range PCR to improve detection rates for genes
traditionally difficult to sequence, including the CYP21A2
(congenital adrenal hyperplasia due to 21-hydroxylase deficiency), GBA
(Gaucher disease) and HBA1/HBA2 (alpha-thalassemia) genes.

"Genetic testing is revolutionizing the reproductive health journey by
giving parents and prospective parents unprecedented and actionable
information ahead of, during, and after pregnancy," said Eric Schadt,
PhD, Founder and Chief Executive Officer of Sema4. "Our newest tests
were developed using advanced data science technologies, leveraging our
proprietary knowledge base of genomic information, to provide patients
and healthcare providers with the most meaningful and actionable

For both tests, customers may use Sema4's patient portal to seamlessly
track the status of the test and view results. Sema4 is committed to
enabling patients to better manage all their health information,
including electronic medical records, for those who electronically
consent to do so. The patient portal also includes helpful educational
resources for Noninvasive Prenatal Select, including videos for pre-test
patients and videos for post-test patients with negative results.
Phone-based genetic counseling is available to all patients.

Sema4's other reproductive health offerings include CarrierCheck,
a carrier screening test of 67 conditions, and Natalis,
a highly accurate test of 193 treatable, childhood-onset conditions that
parents can use to gain early insight into a baby's health. The Expanded
Carrier Screen test was first launched in 2015 at Mount Sinai Health

For more information about Sema4 Noninvasive Prenatal Select or the
Expanded Carrier Screen, including lists of all genes analyzed, visit:

About Sema4

Sema4 is a patient-centered predictive health company founded on the
idea that more data, deeper analysis, and increased engagement will
improve the diagnosis, treatment, and prevention of disease. A Mount
Sinai Health System venture based in Stamford, Connecticut, Sema4 is
enabling physicians and consumers to more seamlessly engage the digital
universe of health data, from genome test results and clinical records
to wearable sensor metrics and more. The company currently offers
advanced genome-based diagnostics for reproductive health and oncology
and is building predictive models of complex disease. 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,
Facebook and YouTube.

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