Director, Translational Research

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.  Summary   The Director, Translational Research is a strategic, client-facing scientific leader who bridges rare disease, clinical genomics, data-driven evidence generation, and commercial strategy. This role partners closely with Biopharma, Data Product, R&D, and Medical Affairs to translate partner needs into fit-for-purpose data and research solutions that support revenue growth and long-term collaborations.

This role also provides strategic clinical support to Patient Advocacy & Engagement initiatives. Through clear scientific communication and cross-functional execution, this position helps advance rare disease translational research and improve outcomes for patients and families.   Job Responsibilities   Biopharma Strategy & Partnerships   Lead scientific strategy for biopharma engagements by shaping targeted, use-case-specific approaches that leverage GeneDx Infinity data and capabilities to support partner objectives and GeneDx priorities   Serve as the rare disease genomics and clinical subject matter expert in client-facing engagements, translating molecular and clinical context into fit-for-purpose data and evidence strategies   Develop customer-ready scientific deliverables (e.g., analysis approaches, evidence/study plans, narratives, reports, and presentations) that drive engagement and expand collaboration scope   Build and deepen relationships with thought leaders and key decision makers at partner organizations to identify opportunities and support long-term collaboration and drive revenue   Lead or support partnerships with professional societies, biopharma medical affairs, and other stakeholder groups to support GeneDx growth objectives in pharmaceuticals and biotechnology     Scientific Leadership   Provide scientific and clinical expertise across Data Product, Biopharma, Medical Affairs, and Patient Advocacy; align scientific needs to business objectives and drive efficient execution of key initiatives   Provide high-level guidance on product and analytic approaches for genomic and clinical data including methods, cohort definitions, and interpretation, while establishing scalable quality practices to ensure outputs are rigorous, consistent, and accurate   Inform study design for evidence generation and study analyses (e.g., natural history, patient journey, endpoint feasibility) using GeneDx Infinity data assets   Maintain awareness of trends in rare disease genomics, translational research, and data/AI-enabled approaches; incorporate partner feedback to inform roadmap priorities, workflow improvements, and differentiation   Deliver scientific and clinical presentations on GeneDx Infinity data and genomic testing to audiences across biopharma and patient advocacy   People Manager  No   Education, Experience, and Skills  Advanced degree (Masters, PhD) in genetics/genetic counseling or similar   10+ years related experience in a relevant clinical, academic, or industry position   Experience with real-world evidence, natural history studies, registries, or clinically anchored cohorting/phenotyping in rare disease   Proficiency in SQL and Python/R, including experience integrating multimodal data to support translational research and evidence generation preferred   Excellent written, oral communication skills   Strong presentation skills   Ability to work independently and manage time effectively   Adept at collaborating with stakeholders who have varying priorities to drive projects to completion   High level of initiative and ability to anticipate project needs   Willingness to travel up to 30%   Work Environment  This is a fully remote position.

The employee will work from a home office or other suitable remote location with reliable high-speed internet access. Work is performed in a climate-controlled environment using standard office equipment including computer, phone, and video conferencing tools. Your standard work schedule and hours will be established in collaboration with your leader and may be adjusted to align with evolving business needs.  Physical Demands  This is a sedentary role requiring prolonged periods of sitting while working at a computer.

Physical demands include:  Sitting for extended periods (up to 8 hours per day)  Repetitive use of hands and fingers for typing and mouse operation  Visual acuity for reading computer screens and documents  Ability to communicate effectively via phone and video calls  Occasional lifting of up to 10 pounds (office supplies, equipment)  #LI-REMOTEPay Transparency, Budgeted Range$190,000—$210,000 USD~ Science - Minded, Patient - Focused.  At GeneDx, we create, follow, and are informed by cutting-edge science.

With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care. Experts in what matters most.  With hundreds of genetic counselors, MD/PhD scientists, and clinical and molecular genomics specialists on staff, we are the industry’s genetic testing experts and proud of it.

We share the same goal as healthcare providers, patients, and families: to provide clear, accurate, and meaningful answers we all can trust. SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES. From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way: TECHNICAL EXPERTISE High-quality testing: Our laboratory is CLIA certified and CAP accredited and most of our tests are also New York State approved.

Advanced detection: By interrogating genes for complex variants, we can identify the underlying causes of conditions that may otherwise be missed. CLINICAL EXPERTISE Thorough analysis: We classify variants according to our custom adaptation of the most recent guidelines. We then leverage our rich internal database for additional interpretation evidence.

Customized care: Our experts review all test results and write reports in a clear, concise, and personalized way. We also include information for research studies in specific clinical situations. Impactful discovery: Our researchers continue working to find answers even after testing is complete. Through both internal research efforts and global collaborations, we have identified and published hundreds of new disease-gene relationships and developed novel tools for genomic data analysis.

These efforts ultimately deliver more diagnostic findings to individuals. Learn more About Us here. Our Culture At GeneDx, we are dedicated to cultivating an environment where creativity and innovation thrive. We believe in the power of community and collaboration, where diverse perspectives are embraced, and every voice contributes to our shared success.

Our team is a vibrant mix of professionals who challenge and support each other in equal measure, fostering growth both personally and professionally. When you join us, you're not just taking on a job—you're joining a movement. A movement that champions curiosity, embraces change, and believes in making an impact, one patient at a time.

Cultural principles we live by: Be bold in our vision & brave in our execution. Communicate directly, with empathy. Do what we say we're going to do. Be adaptable to change. Operate with a bias for action.   Benefits include: Paid Time Off (PTO) Health, Dental, Vision and Life insurance 401k Retirement Savings Plan Employee Discounts Voluntary benefits GeneDx is an Equal Opportunity Employer.

All privacy policy information can be found here.

GeneDx Holdings, founded in 2000, is a leading provider of genetic testing services. The company specializes in offering advanced genetic testing solutions for rare and inherited diseases, cancer diagnostics, and pharmacogenomics. GeneDx Holdings is at the forefront of precision medicine, leveraging cutting-edge technology and expertise to provide accurate and timely genetic testing results to healthcare providers and patients worldwide.