Baylor Genetics to Present Research Findings Aimed to Improve Patient Care at Upcoming ICoNS, NORD, and ASHG Conferences
HOUSTON, TX (October 3, 2024), Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will present multiple research abstracts at important upcoming conferences, including the International Consortium on Newborn Sequencing (ICoNS) Annual Conference, National Organization for Rare Disorders (NORD) Rare Diseases & Orphan Products Breakthrough Summit, and the American Society of Human Genetics (ASHG) Annual Meeting.
ICoNS Annual Conference: October 9-10, New York City
ICoNS, a gathering of global thought leaders and stakeholders in newborn sequencing. Robert Rigobello, MS, CGC, manager of Medical Affairs at Baylor Genetics will present findings from the accepted poster abstract:
- “Furthering the Dialogue on Newborn Sequencing: Insights from Neonatal Rapid Whole Genome Sequencing”
- Summary: Baylor Genetics performed a retrospective review of whole genome sequencing (WGS) results of neonatal patients to compare with traditional newborn screening (NBS) to discover conditions that may be missed by traditional NBS. WGS identified actionable genetic diagnoses, with over 70% of these diagnoses not being detected by a large NBS panel. The authors noted the value of WGS in early intervention and personalized treatment for newborns.
NORD Breakthrough Summit: October 20-22, Washington, D.C.
The NORD Rare Diseases and Orphan Products Breakthrough Summit brings together more than 900 advocates, experts, and stakeholders to tackle pressing issues facing the rare disease community. Robert Rigobello, MS, CGC, manager of Medical Affairs at Baylor Genetics will present the accepted poster abstract:
- “Resolving the diagnostic odyssey in a patient with MNGIE and ring chromosome 22”
- Summary: Baylor Genetics reviewed a patient with developmental delays, intellectual disability, and failure to thrive (FTT) who received a diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE). This patient’s journey highlights the importance of early genomic sequencing to shorten the diagnostic odyssey for more appropriate clinical management.
ASHG Annual Meeting: November 5-9, Denver
The American Society of Human Genetics’ Annual Meeting brings together more than 8,000 scientists to discuss advances in the field. Bo Yuan, assistant clinical director, Clinical Genomics at Baylor Genetics will present findings from the accepted poster abstracts:
- “Diagnostic Yield of Whole Genome Sequencing for Patients with Neurodevelopmental Delays”
- Summary: Baylor Genetics performed a retrospective analysis on clinical and genetic findings of more than 1,110 consecutive patients tested by whole genome sequencing (WGS). WGS identified a molecular diagnosis in up to 74% of patients with global developmental delays and intellectual disability, highlighting WGS’ utility as a diagnostic tool.
- “Elucidating the Diagnostic Yield and Allelic Characteristics of FGF14 Repeat Expansions in Adult Ataxia Through Whole Genome Sequencing”
- Summary: In a cohort of patients with adult-onset ataxia lacking a molecular diagnosis, Baylor Genetics performed assessment of the deep intronic GAA expansion within the FGF14 gene associated with late-onset spinocerebellar ataxia 27B. This assessment allowed for a molecular diagnosis to be established in over 6% of this cohort. These findings highlight the utility of tandem repeat disorder testing for FGF14 to increase diagnostic yield by whole genome sequencing (WGS) for patients with hereditary ataxia.
- To learn more about Baylor Genetics, come see us at ICoNS, and at ASHG by visiting booth #854, or visit baylorgenetics.com.
About Baylor Genetics
As a pioneer of precision medicine for over 45 years, Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. Through a joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, Baylor Genetics combines rapid and comprehensive precision diagnostic options with the support of genetic counselors to help clinicians avoid a lengthy diagnostic odyssey for their patients, guide medical management, and ensure no patient with a genetic disorder gets left behind. Baylor Genetics’ testing menu covers family planning, pregnancy, neonatal and pediatric testing, oncology, and many other specialized testing options. Located in Houston’s Texas Medical Center, Baylor Genetics serves clients in 50 states and 16 countries.
PR Contacts
Baylor Genetics:
SVM Public Relations
[email protected]
(401) 490-9700
