Distinguished AI Research Fellow

Summary

The Distinguished AI Research Fellow is responsible for the strategic vision, innovation, and design of genomic AI research and applications at GeneDx. This leader will architect and deliver resilient, scalable, and innovative AI clinical applications into development and production.

This position plays a key role in shaping GeneDx's roadmap for advancing genomic interpretation, AI applications in diagnostics setting technical direction and ensuring the successful integration of AI capabilities throughout the company. This role will champion best practices in AI analytics, stay ahead of emerging trends, and foster a culture of technical excellence, collaboration, and innovation.

Job Responsibilities

• Help define and lead the execution of Genedx's long-term AI scientific and innovation strategy.
• Create and execute innovative AI solutions for analysis and interpretation of genomic data, increasing the speed and rate of diagnosis.
• Collaborate closely with R&D, engineering, and product teams to enable seamless delivery and integration of AI solutions within the production lab.
• Solve complex and cross-platform AI and computational system design challenges, making informed decisions on technology and architecture.
• Oversee scientific research programs, including product innovation, algorithm development, and validation studies.
• Guide the application of AI, and statistical genetics to clinical genomics workflows.
• Communicate effectively with leadership and stakeholders, translating technical concepts into business value.
• Establish and nurture relationships with academic institutions, clinical partners, and key opinion leaders.
• Represent the company in scientific and medical forums, conferences, and publications.
  
  

Serve as a strategic voice in collaborations with GeneDx's medical affairs and research teams.

Education, Experience, and Skills

• PhD or MD/PhD in Genetics, Genomics, Molecular Biology, Bioinformatics, or a related field.10+ years of scientific leadership in a genomics, diagnostics, or biotech company.
• Deep expertise in rare disease genomics, variant interpretation, and NGS data analysis.
• Proven track record of translating research into commercial products or clinical applications.
• Strong understanding of AI/ML applications in genomic diagnostics.
• Experience working with regulatory bodies and clinical partners.
• Excellent communication, leadership, and cross-functional collaboration skills.
• Proven expertise in designing and implementing scalable ML platforms and infrastructure.
• Strong competency in cloud services and designing resilient, scalable systems.
• Proficiency with multiple API and architectural paradigms.
• Advanced knowledge of MLOps and large-scale ML model deployment.
• Excellent communication and stakeholder engagement skills.
• Demonstrated ability to lead cross-functional efforts and drive organizational change.
• Deep understanding of emerging trends and technologies in AI / ML and cloud computing.
  
  

Certificates, Licenses, Registrations

• Relevant certifications in cloud platforms (e.g., AWS, GCP, Azure) or ML/AI (preferred but not required).
  
  

Physical Demands

Ability to stand, walk, and sit for extended periods.

Work Environment

• The role may require occasional travel to client sites, with potential exposure to outdoor weather conditions.
  
  

Pay Transparency, Budgeted Range

$280,000—$310,000 USD

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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.