Good Start Genetics’ NGS Technologies Detect Up to 30 Percent More Carriers than Traditional Methods

Clinical experience using next-generation sequencing shows higher
detection rates across more ethnicities when screening for cystic
fibrosis, other diseases

Start Genetics®
Inc., a commercial-stage molecular genetics
information company, presented data from two studies focused on carrier
screening at the 2015 American Society for Reproductive Medicine (ASRM)
annual meeting. Both poster presentations show higher detection rates
with the use of next-generation sequencing (NGS) over traditional
carrier screening methods.

In presenting “Next-generation DNA Sequencing: Improving the Accuracy
of Routine Carrier Screening,
Dr. Nicole Faulkner and team
highlight the importance of pan-ethnic screening using NGS technology.
“Our findings prove that out of the approximately 65 thousand fertility
patients screened using NGS technology for up to 13 Ashkenazi Jewish
(AJ) genetic disorders recommended by medical society guidelines, 30
percent of the carriers detected would have been missed using more
traditional genotyping screening methods,” said Dr. Faulkner. “While
most medical societies recommend targeted carrier screening based on a
patient’s ethnicity, next-generation sequencing allows a broader patient
base to be more comprehensively screened leading to a higher detection
rate of carriers. We continue to see these disease-causing mutations in
so-called low-risk populations and in cases where ethnicity is not
known, i.e., individuals who might otherwise not be screened.”

The second presentation by Good Start Genetics was focused specifically
on cystic fibrosis variants. This study, titled “Pan-Ethnic
Populations Are Enriched for Rare and Novel Cystic Fibrosis Variants,

aimed to find CFTR pathogenic variants among pan-ethnic patients
from fertility clinics across the United States. This analysis concluded
that NGS-based cystic fibrosis carrier screenings can identify
significantly more carriers across a broader range of ethnicities. “The
finding of this study brings to light the strides being made in NGS,”
said Dr. Thomas Mullen, one of the study authors. “We now have the
ability to identify the majority of rare variants in cystic fibrosis
that other traditional technologies, like genotyping, would have
missed.” Researchers found that 53 percent of the specific variants
NGS-based screening was able to detect would have been missed by
genotyping panels.

“We are always excited to share our clinical experience findings with
our peers, and look forward to expanding the body of evidence in support
of our carrier screening test, GeneVu,” said Don
, president and chief executive officer of Good Start
Genetics. “We will continue to explore ways in which our proprietary
technology may provide actionable information to clinicians, patients
and their partners prior to pregnancy.” Good Start Genetics presented at
ASRM in Baltimore from October 17 -21, 2015.

About Good Start Genetics®, Inc.

Good Start Genetics is a molecular genetics information company
transforming the standard of care in reproductive medicine. Its suite of
reproductive genetics products provides clinicians and patients with
insightful and actionable information in order to promote successful
pregnancies and healthy families. Its flagship genetic carrier screening
service, GeneVu™, is a comprehensive menu of highly-accurate
tests for known and novel mutations that cause inherited genetic
disorders, and its advanced preimplantation genetic screening test, EmbryVu™,
is helping a wider range of couples find their paths to pregnancy at
significantly lower costs. Good Start Genetics complements these tests
and its proprietary next-generation DNA sequencing (NGS) capabilities
with world-class customer care and thoughtful genetic counseling to help
families prepare for tomorrow. For more information, please visit
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and LinkedIn.


Media Contacts
Good Start Genetics
Bob Rochelle,
Ashley Benisatto, 617-624-3216