PerkinElmer Genomics Introduces Physician-Ordered Genetic Screening Test for Proactive Health Management



WALTHAM, Mass.–(BUSINESS WIRE)–Today, in collaboration with Helix, PerkinElmer,
, a global leader committed to innovating for a healthier world,
launched GenePrism:
Actionable Insights
, a new genetic screening test, offering the
most comprehensive clinical-grade DNA sequencing and interpretation on
the market right now, for anyone who wants to learn about underlying
disease risks.

Although there are approximately 6,000 genes associated with disease,
just a fraction are considered medically actionable or have a
therapeutic option. GenePrism: Actionable Insights specifically
analyzes a subset of 59 medically actionable genes identified
by the American College of Medical Genetics and Genomics (ACMG)
Clinically significant changes found in one of the genes greatly
increases a person’s likelihood of developing the associated health
risk, which range from high cholesterol to breast, ovarian or colon
cancer. However, with early intervention and proactive health
management, these potentially life-threatening conditions are often
alleviated or, in some cases, completely prevented.

“With the growing interest in DNA testing, the healthcare community is
feeling pressure from an influx of patients looking for health-related
insights and answers about their genetic makeup,” said Dr. Madhuri
Hegde, Ph.D., FACMG, vice president and chief scientific officer,
PerkinElmer Genomics. “GenePrism: Actionable Insights is
inherently different from other tests on the market because it leverages
PerkinElmer’s longstanding diagnostics expertise and state-of-the-art
clinical genomics program. People will gain insights into potential
genetic risks for disease through an interactive results portal and
guidance from genetics experts via telemedicine. This allows them to be
proactive with their health, and healthcare providers to spend
additional time with patients whose results require further action or

Users’ DNA is sequenced by Helix,
then results are interpreted by board-certified medical geneticists at
PerkinElmer Genomics using ODIN (Ordered Data Interpretation Network),
PerkinElmer’s proprietary high-throughput software platform. While most
commercially available tests only look at an extremely limited number of
letters in a gene sequence, which represent a very small percentage of a
person’s overall disease risk and can provide a false sense of
reassurance or concern, GenePrism: Actionable Insights analyzes
each of the 59 genes in its entirety—including BRCA1 and BRCA2.
PerkinElmer Genomics also maintains one of the largest databases of
known genetic variations from different ancestries around the world, so GenePrism:
Actionable Insights
customers receive a more in-depth assessment.

Individuals who purchase GenePrism: Actionable Insights from
Helix must first complete a medical questionnaire and receive physician
authorization before submitting a DNA sample. Thanks to a collaboration
with Genome
, customers may do so right from home. Genome Medical will
thoroughly vet users’ personal and family medical history through its
team of physicians, geneticists and genetic counselors. GenePrism:
Actionable Insights
testing report also includes free genetic
counseling sessions from Genome Medical, to ensure customers understand
their results fully and in the correct context.

“Typically, clinical genetic testing that detects ACMG 59 genes is
restricted to people with a current illness or specific indicators in
their family histories. On a population basis, three to four percent of
people have a genetic variant that can significantly impact their
health, but until now, virtually no one was able to access this critical
information even if they request it from their doctor directly,” said
Justin Kao, co-founder and senior vice president, Business Development &
Partnerships, Helix. “Thanks to the affordable clinical-grade sequencing
offered by the Helix Exome+ assay, and our ongoing collaboration with
PerkinElmer Genomics, we are enabling the average person access to ACMG
59 panel. Now, healthy individuals who were previously ineligible for
clinical genetic testing can confidently know if they’ve inherited a
disease-associated variant and take proactive health measures.”

GenePrism: Actionable Insights
test is available immediately for purchase on the Helix
DNA marketplace
. Pricing starts at $259.

PerkinElmer Genomics is exhibiting at the 2019 ACMG Annual Meeting,
April 2-6, at Washington State Convention Center in Seattle. For more
information, stop by booth #901 or visit online:

About PerkinElmer
PerkinElmer enables scientists,
researchers and clinicians to address their most critical challenges
across science and healthcare. With a mission focused on innovating for
a healthier world, we deliver unique solutions to serve the diagnostics,
life sciences, food and applied markets. We strategically partner with
customers to enable earlier and more accurate insights supported by deep
market knowledge and technical expertise. Our dedicated team of 12,500
employees worldwide is passionate about helping customers work to create
healthier families, improve the quality of life, and sustain the
wellbeing and longevity of people globally. The Company reported revenue
of approximately $2.8 billion in 2018, serves customers in more than 150
countries, and is a component of the S&P 500 index. Additional
information is available through 1-877-PKI-NYSE, or at


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