Progenity Launches First Commercially Available, Custom-Designed, Noninvasive Prenatal Test for Monogenic Diseases

Progenity also announces improvements to its Innatal^®
noninvasive prenatal test (NIPT), demonstrating market-leading
sensitivity and specificity across all common chromosomal aneuploidies

SAN DIEGO–(BUSINESS WIRE)–Progenity, Inc., a privately held biotechnology company, announced today
the launch of the Resura™
Prenatal Test for Monogenic Disease, the first of its kind,
commercially available, customizable, noninvasive prenatal test (NIPT)
for single-gene disorders. This novel test broadens expectant parents’
prenatal testing options to include a safe, noninvasive test tailored to
their family’s risk for a specific genetic disease. In addition to this
launch, Progenity announced improvements to its Innatal^®
Prenatal Screen, a market-leading NIPT for chromosomal aneuploidies
that now provides greater specificity and sensitivity in evaluating
aneuploidy across all chromosomes tested in a recent validation study.
Both products have been developed to provide increased confidence in
genetic testing results, so informed and individualized care decisions
can be made by patients planning for their future families.

“Since the advent of cell-free DNA testing for chromosomal
abnormalities, healthcare providers and patients have been asking for a
similar noninvasive testing pathway for monogenic disease,” said Harry
Stylli, PhD, CEO, Chairman of the Board and Founder of Progenity. “With
the development of the Resura test, we accepted and overcame the
challenges inherent in differentiating the fetal genotype from the
maternal background, and we are proud to introduce a new, noninvasive
testing option to families impacted by rare disease.”

The Resura test is available to families with known risk for monogenic
disease, which is typically caused by a mutation within a single gene.
Common examples of monogenic disease include cystic fibrosis, sickle
cell anemia, and Tay-Sachs disease. For many of these diseases, knowing
the diagnosis before birth informs critical treatment decisions upon the
infant’s arrival. The Resura test can be performed on disease-causing
variants of all inheritance types, including recessive, dominant, and
X-linked genetic mutations. Currently, testing for these genetic
variants in a fetus involves undergoing invasive prenatal testing, such
as amniocentesis, or waiting for postnatal diagnosis. The Resura test
uses fetal cell-free DNA (cfDNA) extracted from a sample of the mother’s
blood to test for genetic variants. Validation data for the Resura test
was presented at the National Society of Genetic Counselors’ 37th Annual
Conference in November 2018 and can be found on Progenity’s website.

Progenity also upgraded its Innatal Prenatal Screen, a noninvasive
prenatal test for chromosomal aneuploidy, with the latest sequencing
technology, improved chemistry, and bioinformatic analysis. These
enhancements solidify the test’s superiority compared to competitive
tests to detect aneuploidies in chromosomes 21, 18, 13, X, and Y in our
validation study of over 1,400 patients. The high
sensitivity and specificity for this screening test ensure false
positives or false negatives are very rare, which increases the positive
predictive value (PPV) and negative predictive value (NPV) of the test.
Together, this gives more assurance to providers and patients that the
results accurately reflect the genetic makeup of the fetus. The Innatal
test also has one of the lowest failure rates available, which is
important because current ACOG guidelines recommend treating a failed
test as a high-risk result and offering invasive diagnostic testing to
the patient.

“Progenity is driving development of the next generation of noninvasive
prenatal testing, fueled by our commitment to continually advance
current technologies and develop innovative products for unmet medical
needs, like the Resura test,” said Matthew Cooper, PhD, Chief Scientific
Officer at Progenity. “And with over one million next-generation
sequencing tests performed in house at our CLIA-accredited and
CAP-certified laboratory, we have proven experience helping physicians
and patients make individualized care decisions.”

To further support patients and providers in understanding prenatal test
results, Progenity employs a team of board-certified genetic counselors
with more than 250 years combined experience as a resource for its
customers.

More information about Progenity’s prenatal testing is available at www.progenity.com.

About Progenity

Progenity, Inc., is a privately held biotechnology company with the
mission of transforming healthcare to be more precise and personal. The
company is translating innovation into precision medicine through
diagnostic and therapeutic development platforms based on
genomics/epigenomics, proteomics, and microbiomics. These platforms feed
an R&D pipeline of innovative products designed to improve patient
outcomes in prenatal and perinatal healthcare settings, oncology, and
gastroenterology. Progenity’s ultimate vision is to make precision
medicine a reality by both diagnosing disease at its source and treating
it with targeted therapies developed by the company. Progenity is
headquartered in San Diego, California. For more information on how
Progenity is helping clinicians and patients prepare for life, please
visit www.progenity.com.

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