SECAUCUS, N.J. and HELSINKI, Finland, April 13, 2021 /PRNewswire/ -- Quest
Diagnostics (NYSE: DGX), the world's leading provider of diagnostic
information services, and Blueprint Genetics announced today that
they will present results of 10 studies at the virtual 2021
American College of Medical Genetics and Genomics (ACMG) Annual
Meeting, to be held April 13–16, 2021. These studies
demonstrate the value of a broad range of genomic sequencing and
other technologies to help diagnose several inherited disorders
across various medical specialties.
In January 2020, Quest Diagnostics
acquired Blueprint Genetics, a leading specialty genetic testing
company with deep expertise in gene variant detection using next
generation sequencing (NGS), proprietary bioinformatics, and
clinical interpretation. Since that time, Quest and Blueprint
Genetics have broadened access to actionable insights in genetic
disorders and inherited diseases for patient care and anticipatory
management as well as pharmaceutical drug research and development
and clinical trials, particularly in the United States.
"Genomic testing is an essential component of patient care as
results can impact treatment and management on many levels. Too
often, patients experience a diagnostic odyssey, spending months,
years or even a lifetime searching for a diagnosis because they
lack access to genomic testing insights," said Carrie Eglinton Manner, Senior Vice
President, Advanced Diagnostics, Quest Diagnostics. "Quest and
Blueprint Genetics are working together to bring innovative
advanced diagnostics – from test ordering to gene variant
interpretation and clinical reporting – to patient populations with
unmet medical needs."
Featured studies focus on mitochondrial disease, hearing loss
and skeletal dysplasias
Among the research is the study "Retrospective review of
mitochondrial genome analysis in over 6600 cases using clinical
grade mtDNA sequencing" (Poster: eP345), which demonstrates that
including high-quality mitochondrial mtDNA analysis by next
generation sequencing (NGS) in panels in multiple medical
specialties increases the ability to make diagnoses for patients
with mitochondrial disease. Mitochondrial disorders can be
difficult to diagnose, as many of the symptoms, such as vision or
hearing loss, seizures or poor muscle tone, can be mistaken for
other diseases. While mitochondrial disorders have no cure,
patients often do better when the underlying cause of their
symptoms is diagnosed and addressed early.
"It's exciting to witness first-hand how mtDNA analysis
increases diagnostic yields: Greater than a 1 percent increase in
diagnostic yield, on average, across all panels, and a greater than
5 percent increase in multiple panels. The NGS-based technology we
developed and extensively validated is specifically optimized for
the detection of large mtDNA deletions and low levels of
heteroplasmy. Mitochondrial disorders need to be considered in the
diagnostic workflow for patients with suspected inherited disorders
to provide more molecular diagnoses for all patients, not just
those with complex presentations," said Jennifer Schleit, Blueprint Genetics
Laboratory Director, North
America.
Molecular genetic testing is now considered a standard part of
the evaluation of hearing loss in infants. However, comprehensive
genetic testing in hearing loss using standard NGS methods is
complicated. A comprehensive testing strategy that includes
difficult-to-sequence regions is needed for the most accurate
diagnosis. A study titled "Next-generation sequencing panels for
hereditary hearing loss testing with approaches for
difficult-to-sequence regions" (Poster: eP345) demonstrates that
the inclusion of difficult-to-sequence genes, such as STRC
and OTOA, contributed to more than 10 percent of the
diagnostic yield.
Another study, "Diagnostic utility of next-generation sequencing
panel tests in the diagnosis of skeletal dysplasias" (Poster:
eP346), found that NGS panels enabled diagnosis in 42 percent of
patients. Skeletal dysplasias involve more than 450 heritable
conditions that cause abnormalities of cartilage and bone, but
diagnosis is challenging given significant overlap in symptoms. The
analysis also demonstrated a diagnostic yield of 62 percent in
prenatal cases, suggesting that testing in prenatal situations has
significant clinical utility.
Abstracts can be accessed on the ACMG website.
Among the scientific and clinical work being presented at the
meeting are:
- Diagnostic yield and clinical utility of genetic testing in
children with seizure onset after 2 years of age: An update
(Poster: OP086)
- Retrospective review of mitochondrial genome analysis in over
6600 cases using clinical grade mtDNA sequencing (Poster:
eP345)
- Next-generation sequencing panels for hereditary hearing loss
testing With approaches for difficult-to-sequence regions (Poster:
eP345)
- Biallelic NRAP variants are a significant cause of
dilated cardiomyopathy (Poster: eP343)
- Diagnostic utility of next-generation sequencing panel tests in
the diagnosis of skeletal dysplasias (Poster: eP346)
- Novel BCL11A variant Arg3Cys identified in male
with intellectual disability and persistence of fetal Hb (Poster:
eP138)
- A web-based educational program to support the updated
ACMG/ClinGen technical standards for constitutional copy number
variant classification (Poster: eP366)
- Expanding the mutational spectrum for branchiooculofacial
syndrome: a novel nonsense variant (Poster: eP415)
- Arginine to ornithine ratio as a diagnostic marker in patients
with positive newborn screening for hyperargininemia (Poster:
eP012)
- Retrospective review of genetic testing for inherited bone
marrow failure syndromes (eP363)
Quest Diagnostics and Blueprint Genetics are improving patient
outcomes through high-quality genomic testing. Quest Diagnostics is
the leader in advanced diagnostics, including in genetics and
genomics. The company offers more than 1,000 genetic tests,
including whole exome sequencing, germline and somatic gene
sequencing, noninvasive prenatal screening, pharmacogenomics as
well as cytogenetics and biochemical genetic testing. With a global
customer base in over 70 countries, Blueprint Genetics brings
specialty genetics knowledge in sequencing and bioinformatics and
variant interpretation and reporting to Quest, which complements
and extends its existing genetics leadership. Quest Diagnostics'
600 MDs and PhDs and genetic counselors aid physicians in test
selection and interpretation and publish hundreds of studies each
year.
About Quest Diagnostics
Quest Diagnostics empowers people to take action to improve
health outcomes. Derived from the world's largest database of
clinical lab results, our diagnostic insights reveal new avenues to
identify and treat disease, inspire healthy behaviors and improve
health care management. Quest Diagnostics annually serves one in
three adult Americans and half the physicians and hospitals
in the United States, and our nearly 50,000 employees
understand that, in the right hands and with the right context, our
diagnostic insights can inspire actions that transform lives.
www.QuestDiagnostics.com.
About Blueprint Genetics
Blueprint Genetics, a Quest
Diagnostics company, is a leading specialty genetics and
bioinformatics company focused on providing genetic testing for
inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70
countries. www.blueprintgenetics.com
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