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) 

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