GeneDx Advances Genomic Research Transforming Patient Care

Leading the Charge in Genomics Research

GeneDx, known for its commitment to enhancing health outcomes through genomic insights, continues to drive forward in the arena of genomics research. The company's investment in refining gene-disease relationships has seen remarkable results, contributing significantly to over 85 peer-reviewed publications this year alone. These efforts are crucial, as they help expand our understanding of various phenotypes, new disease mechanisms, and modes of inheritance. This dedication has positively impacted the results of 12% of all patients receiving exome or genome sequencing at GeneDx.

Collaboration Through GeneMatcher

In an exciting development, GeneDx has also played a pivotal role in GeneMatcher, a collaborative platform aimed at facilitating disease-gene discovery. The platform allows researchers, clinicians, and patients to share genetic findings, making the process of understanding rare diseases more inclusive and effective. GeneDx's contribution to nearly a quarter of all submissions to this platform underlines its leadership. Each candidate gene identified by GeneDx is shared, assisting in the global effort to enhance our knowledge about genetic conditions.

The Human Impact

To date, GeneDx's initiatives have directly influenced the testing outcomes of over 22,000 patients. This number is not just a statistic; it signifies real lives being affected by enhanced diagnosis and treatment options. As healthcare evolves, GeneDx remains committed to ensuring that patients and their families receive the most comprehensive and definitive genomic insights.

Commitment to Quality and Research

Paul Kruszka, MD, FACMG, the Chief Medical Officer at GeneDx, emphasizes the importance of their work in genomics. "Our high-quality genomic testing combined with our dedication to research keeps us at the forefront of genomics. We aim to improve the lives of patients through definitive diagnoses, driven by a profound understanding of gene-disease relationships." This commitment resonates deeply with the company's mission to deliver actionable insights, thereby refining the pathways for patients and healthcare professionals alike.

Impactful Research Statistics

The ongoing research efforts are not just about contributing to publications; they are about tangible impacts on healthcare. In 2024, GeneDx has:

• Released 86 new publications in prestigious peer-reviewed journals, totaling over 1,121 published works, showcasing the depth of their research capabilities.
• Participated in 26 collaborative publications that enhance the existing knowledge of disease-gene associations, introducing new findings that broaden the understanding of genetic conditions.
• Reported 35 new disease-gene relationships, further enriching the genomic landscape.
• Surpassed 21,315 submissions to GeneMatcher, highlighting GeneDx's immense contribution of 22.2% of all submissions, solidifying its role as a leader among its peers.

Engagement with Clinicians

Understanding the critical role that GeneDx ordering clinicians play in the patient journey, the company actively involves them in research initiatives. In the current year, nearly 150 clinicians participated as co-authors on GeneMatcher publications, building a collaborative network that enriches patient outcomes through shared knowledge and research.

Looking Ahead

GeneDx's research and initiatives are more than just numbers; they reflect a profound commitment to improving healthcare for rare disease patients. By striving for genomic answers and ensuring clinician involvement in their research, GeneDx is at the forefront of fundamental scientific innovations that promise to enhance treatment methodologies in the future.

About GeneDx

GeneDx (Nasdaq: WGS) specializes in delivering personalized, actionable health insights aimed at informing diagnoses, directing treatments, and enhancing drug discovery. Positioned uniquely in the genomics landscape, GeneDx accelerates the adoption of precision medicine, ensuring it becomes the standard of care. Through its cutting-edge exome and genome testing services, augmented by extensive rare disease data, GeneDx is reshaping the future of healthcare.

Frequently Asked Questions

What is GeneDx known for?

GeneDx is known for its leadership in providing genomic insights that enhance health outcomes and refine gene-disease relationships.

How has GeneDx impacted patient care?

GeneDx has influenced the results of over 22,000 patients by providing definitive genomic diagnostic insights.

What is the significance of GeneMatcher?

GeneMatcher is a collaborative platform that facilitates disease-gene discovery among researchers, clinicians, and patients, enhancing global collaboration in genetics.

What types of publications has GeneDx contributed to?

In 2024 alone, GeneDx has contributed to 86 peer-reviewed publications, indicating a strong commitment to advancing genomic knowledge.

How does GeneDx involve clinicians in its research?

GeneDx actively invites ordering clinicians to participate in research related to patient results, promoting a collaborative approach to genomic medicine.

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