GeneDx Continues its Leadership in Genomics Research, Refining Gene-Disease Relationships and Impacting Results of >22,000 Patients
GeneDx (Nasdaq: WGS) has demonstrated significant leadership in genomics research throughout 2024, contributing to over 85 peer-reviewed publications and impacting the results of more than 22,000 patients through gene-disease relationship studies. The company has become the largest contributor to GeneMatcher, accounting for 22.2% of all submissions with over 21,315 entries.
The research efforts have led to 26 publications expanding knowledge of known disease-gene associations and 35 publications reporting new disease-gene relationships. Nearly 150 GeneDx ordering clinicians were included as co-authors in 2024, bringing the total to 638 unique ordering clinician co-authors. These contributions have influenced the broadening of phenotypes, discovery of new disease mechanisms, and new modes of inheritance, affecting 12% of all patients receiving exome or genome sequencing from GeneDx.
GeneDx (Nasdaq: WGS) ha dimostrato una notevole leadership nella ricerca genomica nel 2024, contribuendo a oltre 85 pubblicazioni peer-reviewed e influenzando i risultati di più di 22.000 pazienti attraverso studi sulle relazioni gene-malattia. L'azienda è diventata il principale contributore a GeneMatcher, rappresentando il 22,2% di tutte le submit con oltre 21.315 voci.
Gli sforzi di ricerca hanno portato a 26 pubblicazioni che ampliano la conoscenza delle associazioni malattia-gene conosciute e a 35 pubblicazioni che riportano nuove relazioni malattia-gene. Quasi 150 medici ordinatori di GeneDx sono stati inclusi come co-autori nel 2024, portando il totale a 638 co-autori medici ordinatori unici. Questi contributi hanno influenzato l'ampliamento dei fenotipi, la scoperta di nuovi meccanismi di malattia e nuovi modi di eredità, impattando il 12% di tutti i pazienti che ricevono sequenziamento dell'esoma o del genoma da GeneDx.
GeneDx (Nasdaq: WGS) ha demostrado un liderazgo significativo en la investigación genómica a lo largo de 2024, contribuyendo a más de 85 publicaciones revisadas por pares e impactando los resultados de más de 22,000 pacientes a través de estudios sobre las relaciones gen-enfermedad. La empresa se ha convertido en el mayor contribuyente a GeneMatcher, representando el 22.2% de todas las presentaciones con más de 21,315 entradas.
Los esfuerzos de investigación han llevado a 26 publicaciones que amplían el conocimiento de las asociaciones enfermedad-gene conocidas y a 35 publicaciones que informan nuevas relaciones enfermedad-gene. Casi 150 médicos ordenadores de GeneDx fueron incluidos como coautores en 2024, elevando el total a 638 coautores únicos. Estas contribuciones han influido en la ampliación de fenotipos, el descubrimiento de nuevos mecanismos de enfermedad y nuevos modos de herencia, afectando al 12% de todos los pacientes que reciben secuenciación de exoma o genoma de GeneDx.
GeneDx (Nasdaq: WGS)는 2024년 동안 유전체 연구에서 중요한 리더십을 보여주며 85개 이상의 동료 검토 출판물에 기여하고 22,000명이 넘는 환자에게 유전자-질병 관계 연구를 통한 결과에 영향을 미쳤습니다. 이 회사는 GeneMatcher에 가장 큰 기여를 한 곳으로, 총 제출물의 22.2%를 차지하며 21,315건 이상의 항목을 기록하고 있습니다.
연구 노력은 알려진 질병-유전자 연관성에 대한 지식을 확장하는 26개의 출판물과 새로운 질병-유전자 관계를 보고하는 35개의 출판물로 이어졌습니다. 2024년에는 약 150명의 GeneDx 의뢰 의사가 공동 저자로 포함되어 총 638명의 독특한 의뢰 의사 공동 저자가 되었습니다. 이러한 기여는 표현형의 확장, 새로운 질병 메커니즘 발견 및 새로운 유전 방식에 영향을 미쳐 GeneDx에서 외부 또는 게놈 시퀀싱을 받는 모든 환자의 12%에 영향을 미쳤습니다.
GeneDx (Nasdaq: WGS) a montré un leadership significatif dans la recherche en génomique tout au long de 2024, contribuant à plus de 85 publications évaluées par des pairs et impactant les résultats de plus de 22 000 patients grâce à des études sur les relations gène-maladie. L'entreprise est devenue le plus grand contributeur à GeneMatcher, représentant 22,2 % de toutes les soumissions avec plus de 21 315 entrées.
Les efforts de recherche ont conduit à 26 publications élargissant les connaissances sur les associations maladie-gène connues et à 35 publications rapportant de nouvelles relations maladie-gène. Près de 150 cliniciens commandant de GeneDx ont été inclus comme co-auteurs en 2024, portant le total à 638 co-auteurs uniques. Ces contributions ont influencé l'élargissement des phénotypes, la découverte de nouveaux mécanismes de maladie et de nouveaux modes d'hérédité, affectant 12 % de tous les patients recevant un séquençage d'exome ou de génome de GeneDx.
GeneDx (Nasdaq: WGS) hat im Jahr 2024 eine signifikante Führungsrolle in der Genomforschung demonstriert, indem es zu über 85 peer-reviewed Publikationen beigetragen hat und die Ergebnisse von mehr als 22.000 Patienten durch Studien zu Gen-Krankheits-Beziehungen beeinflusst hat. Das Unternehmen ist der größte Beitragsleister zu GeneMatcher und macht 22,2% aller Einreichungen aus, mit über 21.315 Einträgen.
Die Forschungsanstrengungen haben zu 26 Publikationen geführt, die das Wissen über bekannte Krankheits-Gen-Assoziationen erweitern, sowie zu 35 Publikationen, die neue Krankheits-Gen-Beziehungen berichten. Fast 150 GeneDx bestellende Kliniker wurden 2024 als Co-Autoren aufgenommen, wodurch die Gesamtanzahl auf 638 einzigartige bestellende klinische Co-Autoren steigt. Diese Beiträge haben die Erweiterung von Phänotypen, die Entdeckung neuer Krankheitsmechanismen und neuer Vererbungsmodi beeinflusst, was 12 % aller Patienten betrifft, die von GeneDx eine Exom- oder Genomsequenzierung erhalten.
- Contributed to 86 peer-reviewed publications in 2024, reaching over 1,121 total publications
- Largest contributor to GeneMatcher with 22.2% of all submissions
- Research impacted results of >22,000 patients
- Collaborated on 35 publications reporting new disease-gene relationships
- Engaged 150 ordering clinicians as co-authors in 2024
- None.
Insights
GeneDx's research achievements in 2024 demonstrate significant operational execution but immediate financial impact. The publication of 86 peer-reviewed articles and contribution of 22.2% of GeneMatcher submissions reinforces the company's scientific leadership position. The impact on >22,000 patients tested at GeneDx indicates strong clinical utility, but the market implications are primarily long-term.
This scientific productivity strengthens GeneDx's competitive moat in rare disease diagnostics and data analytics. Their database expansion enhances the company's diagnostic accuracy and could lead to future monetization opportunities through pharmaceutical partnerships and improved reimbursement rates. However, the immediate revenue impact is , as research investments typically have extended commercialization timelines.
The accumulation of 21,315 GeneMatcher submissions represents a strategic data asset that positions GeneDx advantageously in the precision medicine market. The collaboration with 638 unique ordering clinicians creates a powerful network effect that could accelerate patient recruitment and clinical insights. The expansion of known disease-gene associations through 26 publications enhances the company's diagnostic yield, potentially improving insurance coverage and clinical adoption.
While these achievements strengthen GeneDx's market position in rare disease diagnostics, the financial benefits will materialize gradually through improved test accuracy and potential therapeutic development partnerships. The research infrastructure and clinician network represent valuable intangible assets that aren't immediately reflected in financial statements.
Contributed nearly one quarter of all submissions to GeneMatcher and collaborated on more than 85 peer reviewed publications in 2024
In 2024, GeneDx also contributed nearly one quarter of all submissions to GeneMatcher, a platform that facilitates disease-gene discovery by sharing genetic findings among patients, clinicians, and researchers. For each “candidate gene”—a gene that is highly suspected (but not yet proven) to be linked to a specific disease—identified by GeneDx, the lab submits the finding to GeneMatcher, which then connects researchers and clinicians around the world so they can work together to better understand genetic contributions to rare disease. To date, this research has impacted >22,000 patients tested at GeneDx and, in the future, will influence the results of many additional patients seeking diagnoses or answers.
“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,” said Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “We’re committed to improving the lives of patients and their families by delivering definitive diagnoses, and that ultimately begins with a deep understanding of gene-disease relationships. We’re honored to contribute our knowledge to the broader scientific community to ultimately help more patients.”
By the numbers
GeneDx is a leader in scientific inquiry, striving to find answers for more patients. Through ongoing research efforts in 2024, GeneDx:
- Contributed to 86 publications in peer reviewed journals, bringing the total to over 1,121 publications to date and demonstrating the company’s leadership in the commercial laboratory space
- Collaborated on 26 publications that expanded current knowledge of known disease-gene associations, including broadening phenotypes, new disease mechanisms, and new modes of inheritance
- Collaborated on 35 publications that reported new disease-gene relationships
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Increased its cumulative GeneMatcher submissions to more than 21,315—accounting for
22.2% of all such submissions and making GeneDx the largest contributor of the 16,812 laboratories, researchers, and clinicians taking part in the initiative
Recognizing that GeneDx ordering clinicians have a vested interest in finding definitive answers for their patients, GeneDx proactively invites them to take part in research around their patients’ candidate gene results. In 2024, almost 150 GeneDx ordering clinicians were included as co-authors on the company’s GeneMatcher publications, bringing the all-time total to 638 unique ordering clinician co-authors.
These endeavors underscore the company’s commitment to improving healthcare for rare disease patients through genomic answers, its dedication to involving ordering clinicians in research efforts that benefit their patients, and its impact on the fundamental understanding of genetics—powering future treatment advancements and innovation.
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
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Source: GeneDx
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