GeneDx, a leader in leveraging genomic insights to improve health outcomes, will showcase its latest research breakthroughs at the 2024 American Society of Human Genetics (ASHG) annual meeting.
The company’s extensive database of over 700,000 clinical exome and genome sequences forms the cornerstone of these studies, highlighting GeneDx’s commitment to driving transformational clinical care for pediatric patients. Through collaborations with leading research initiatives–SeqFirst, the University of Washington, PacBio, the Autism Sequencing Consortium, and GUARDIAN– GeneDx demonstrates the accessibility, affordability, and clinical practicality of exome and whole genome sequencing in pediatric care.
The following key research findings will be presented at ASHG:
Rapid Whole Genome Sequencing (rWGS) in the NICU: Transforming Clinical Care:
This research, conducted in collaboration with SeqFirst, analyzed patient cases where a diagnosis was made using rWGS to understand how genomic sequencing impacted clinical decisions and what diagnoses might be missed by relying on conventional care protocols.
Racial Disparities in Genetic Diagnosis:
In one of the largest studies exploring ancestral backgrounds and genetic diagnosis, GeneDx, the University of Washington, and Geisinger investigate the impact of diverse datasets on diagnostic yield.
Data Validation for Long Read Sequencing:
With growing interest in the clinical applications of long read sequencing, this research presents validation data confirming PacBio’s HiFi long read sequencing sensitivity in detecting variants previously confirmed through short read whole genome sequencing. Cases where long read sequencing uncovered pathogenic variants difficult to detect with short read WGS will also be presented.
Genetic Variants Linked to Autism Spectrum Disorder (ASD):
Working alongside the Autism Sequencing Consortium, researchers identified 230 new genes associated with Autism Spectrum Disorder (ASD). This molecular evidence underscores the accuracy and effectiveness of genetic diagnostics compared to current methods, which rely on observational methods.
Dr. Paul Kruszka, Chief Medical Officer at GeneDx stated, “Presenting these findings at ASHG underscores GeneDx’s dedication to advancing genomic research and its practical application in clinical settings. Our collaborations with leading research initiatives leverage our unique dataset to drive innovation, ultimately leading to better patient outcomes. This work not only highlights the proven clinical utility of genomic testing but emphasizes the importance of equitable access to these advancements."
June 4, 2024 – Stamford, Connecticut
GeneDx presents six platform presentations and five posters at the 2024 ASHG annual meeting:
Platform Presentations:
Wednesday, November 6:
A Crucial Role for PSMC5 in Neurodevelopmental Proteasomopathies
- Presenter: Janelle Stanton, PhD (University of Limerick, Ireland)
Thursday, November 7:
Techinically Challenging Pathogenic Variants: A Head-to-Head Comparison
Presenter: Joseph M. Devaney, PhD (GeneDx)
Use of Exclusion Criteria to Select Critically Ill Newborns for Rapid Genome Sequencing
- Presenter: Tara Wenger, MD, PhD (University of Washington)
Friday, November 8:
- Genome-wide Profiling of Similar Genes Using HiFi Sequencing
Presenter: Xiao Chen, PhD (PacBio)
The Largest Exome Study of Autism Spectrum Disorder Tripples the Number of Autism-Associated Genes
Presenter: Frederick Satterstrom, PhD (Broad Institute)
Expanded Newborn Screening Using Genomic Sequencing
- Presenter: Wendy Chung, MD, PhD (Boston Children’s Hospital)
Posters:
Thursday, November 7:
- Racial Disparities in Access to a Precise Genetic Diagnosis
Presenter: Jessica X. Chong, PhD (University of Washington)
Partial Methylation of a Pathogenic XYLT1 Repeat Expansion
- Presenter: Michael J. Bamshad, MD (University of Washington)
Friday, November 8:
Genetic Etiologies and Diagnostic Yield of Exome Sequencing in Pediatric Motor Speech Disorders
Presenter: Marissa Mitchel, MS (Geisinger Autism & Developmental Medicine Institute)
- Evaluating Dosage Sensitivity
*entor identifies a critical role for the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Presenter: Janelle Stanton, PhD (University of Limerick, Ireland) – Room 505 Session 12
Predictions for Multigenic Copy Number Variants
Presenter: Erin Riggs, MS (Geisinger)
De Novo Variants in
GTF2H1 Underlie Variable Syndromic
Developmental Delay
- Presenter: Karynne Patterson, BS/BA
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, guide treatment, and accelerate drug discovery. The company is uniquely positioned to advance the use of genomic and wider clinical information to establish precision medicine as the standard of care. With the world’s largest rare disease datasets, GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services.
Learn more at www.genedx.com and follow GeneDx on LinkedIn, Facebook and Instagram.
Interview Between Time.news Editor and Dr. Paul Kruszka, Chief Medical Officer at GeneDx
Time.news Editor: Welcome, Dr. Kruszka! It’s great to have you here today, especially with such exciting developments upcoming at the 2024 American Society of Human Genetics (ASHG) annual meeting. GeneDx has been at the forefront of genomic research, and I can’t wait to discuss your findings. Let’s dive in.
Dr. Paul Kruszka: Thank you for having me! We’re thrilled to share our research at ASHG. We believe our findings can make a significant impact on clinical care, particularly for pediatric patients.
Editor: You mentioned the extensive database of over 700,000 clinical exome and genome sequences. How does this resource enhance your research and its implications in clinical settings?
Dr. Kruszka: Our database equips us with a wealth of genetic information that is crucial for advancing diagnostics and tailored treatments. By analyzing such a large dataset, we can identify trends and make more accurate diagnoses, which is particularly important in complex cases often seen in pediatrics.
Editor: One of your key presentations focuses on Rapid Whole Genome Sequencing (rWGS) in the NICU. Can you share how this approach is changing clinical decision-making for critically ill infants?
Dr. Kruszka: Absolutely. Rapid whole genome sequencing allows us to obtain genetic information quickly, often within 24 to 48 hours. In the NICU, this speed can be life-changing. Our studies show that rWGS not only aids in making timely diagnoses that may be missed by conventional methods but also significantly influences clinical management plans, enabling better-targeted therapies right at the bedside.
Editor: That’s remarkable! I also noticed that you’re tackling the issue of racial disparities in genetic diagnosis. What have you found in your studies regarding diverse datasets and diagnostic yield?
Dr. Kruszka: Our research highlights significant disparities in access to genetic testing and the implications for diagnostic accuracy across different populations. By investigating diverse datasets, we discovered that inclusive research can enhance the overall diagnostic yield. We’re advocating for more equitable access to genomic testing to ensure that all patients benefit from advancements in genetic diagnostics.
Editor: That’s an important point! Another exciting finding from your research involves long read sequencing. How does this technology enhance our understanding of genetic variants, particularly in cases that were missed by conventional sequencing methods?
Dr. Kruszka: Long read sequencing technology allows for a more comprehensive view of the genome, capturing larger segments and complex variants that traditional short read sequencing often overlooks. Our validation data confirmed its enhanced sensitivity in detecting pathogenic variants, which has crucial implications for diagnosing rare genetic disorders that would otherwise go unreported.
Editor: Lastly, your collaboration with the Autism Sequencing Consortium is generating buzz with the identification of 230 new genes linked to Autism Spectrum Disorder. How does this discovery bolster the field of genetic diagnostics?
Dr. Kruszka: Identifying these new genes is a significant stride forward in understanding ASD. It underscores the limitations of observational methods currently used for diagnosis. With molecular evidence backing our findings, clinicians can employ more accurate genetic diagnostics, which not only ensure timely intervention but also help families understand the genetic basis of their child’s condition.
Editor: Dr. Kruszka, it sounds like GeneDx is making substantial strides that could transform pediatric care. The emphasis on accessibility and equity in genomic technology is commendable. What’s your hope for the future of genetic diagnostics?
Dr. Kruszka: My hope is that genetic testing becomes the standard for all patients, providing equitable access to cutting-edge diagnostics and treatments. As we continue to push the boundaries of genomic research, I envision a future where every patient receives tailored care grounded in comprehensive genetic insights.
Editor: Thank you, Dr. Kruszka, for sharing your insights with us today. It’s inspiring to see how GeneDx is shaping the future of healthcare through genomics. Good luck at ASHG!
Dr. Kruszka: Thank you! We’re excited to share our work and look forward to making a difference in the field.