GeneDx Advances Genomics Research, Impacting Over 22,000 Patients
GeneDx (Nasdaq: WGS), a pioneer in genomic insights for improved health outcomes, continues to make significant strides in advancing scientific research, especially in the area of gene-disease relationships. In 2024 alone, the company contributed to over 85 peer-reviewed publications, furthering its mission to enhance patient care through genomics. These research efforts have led to important discoveries, including new disease mechanisms, modes of inheritance, and expanded phenotypes. As a result, GeneDx’s work has directly impacted the outcomes of 12% of all patients who received exome or genome sequencing from the company.
GeneDx’s dedication to improving patient lives begins with a deep understanding of the connections between genes and diseases. By constantly refining these relationships, the company delivers definitive diagnoses, contributing to advancements in healthcare and offering new hope to patients and their families. Dr. Paul Kruszka, Chief Medical Officer of GeneDx, emphasized the company’s unique position at the forefront of genomics. “We’re honored to contribute our knowledge to the broader scientific community to ultimately help more patients,” Kruszka stated.
GeneDx’s contributions to the global scientific community go beyond its own research efforts. In 2024, GeneDx submitted nearly a quarter of all findings to GeneMatcher, an international platform that facilitates the discovery of disease-gene relationships by sharing genetic data between researchers, clinicians, and patients. GeneDx’s extensive involvement in GeneMatcher helps connect researchers worldwide, enabling them to collaborate in the identification of candidate genes—those that show strong evidence of being linked to a particular disease but require further validation. This collaboration not only improves the understanding of rare diseases but also helps patients who have yet to receive a definitive diagnosis.
The company’s research has already impacted over 22,000 patients tested at GeneDx, with the potential to continue influencing future diagnoses and results for patients worldwide. “The combination of our high-quality genomic testing and our dedicated involvement in research keeps GeneDx at the forefront of genomics and uniquely positions us to influence the future of healthcare,” Kruszka continued. This research is a testament to GeneDx’s commitment to delivering personalized health insights, which ultimately help guide treatment decisions and improve patient outcomes.
Key Achievements in 2024:
GeneDx’s research in 2024 has further solidified its leadership in the genomics field, contributing to multiple groundbreaking advancements:
- Publications and Scientific Collaboration:
- GeneDx contributed to 86 peer-reviewed publications in 2024, bringing the total number of publications to over 1,121, demonstrating its continued leadership in commercial laboratory research.
- The company collaborated on 26 publications that expanded current knowledge on known disease-gene relationships, uncovering new disease mechanisms, modes of inheritance, and broader phenotypes.
- GeneDx also played a major role in 35 publications that reported entirely new disease-gene associations, further enriching the global understanding of genetics.
- GeneMatcher Submissions:
- It’s involvement in the GeneMatcher platform has been a significant driver of progress in disease-gene discovery. The company’s cumulative GeneMatcher submissions increased to over 21,315 in 2024, making GeneDx the largest contributor among 16,812 labs, clinicians, and researchers participating in the initiative.
- These submissions account for 22.2% of all entries to the platform, underscoring It’s pivotal role in advancing global genomics research.
- Clinician Collaboration:
- GeneDx actively engages with clinicians who order tests for their patients. In 2024, nearly 150 ordering clinicians were included as co-authors on publications related to GeneMatcher, bringing the total number of co-authors to 638. This collaboration reflects the company’s dedication to involving healthcare providers in the research process, ultimately benefiting the patients they serve.
- Rare Disease Focus:
- The company’s commitment to improving healthcare for rare disease patients through genomics continues to drive its research agenda. By providing definitive genomic answers, GeneDx enables healthcare providers to offer more personalized treatment options for patients with rare and complex conditions, leading to better health outcomes.
In conclusion, this ongoing investment in genomic research and its leadership in the exploration of gene-disease relationships continue to make a profound impact on healthcare, particularly for patients with rare diseases. Through its contributions to the scientific community, active involvement in global platforms like GeneMatcher, and collaboration with clinicians, it is paving the way for a future where genomics plays a central role in precision medicine. The company remains at the forefront of transforming healthcare, empowering patients and healthcare providers with actionable genomic insights.
About GeneDx:
GeneDx (Nasdaq: WGS) is a leader in providing personalized health insights through advanced genomic testing and interpretation. The company leverages the world’s largest rare disease data sets to help inform diagnosis, treatment, and drug discovery. This is committed to making precision medicine the standard of care, driving innovation and improving patient outcomes through industry-leading exome and genome testing.
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