Sr Director, Bioinformatics R&D

The mission of the Innovation Lab is to increase the diagnostic yield of our exome and genome products and reduce the time to diagnosis for patients with undiagnosed hereditary disease. Our vision is to deliver personalized and actionable health insights to every person who orders a genetic test from GeneDx. Achievement of our goals will require a culture of innovation, where creativity, experimentation, and the pursuit of new ideas are encouraged and embraced. Individuals are empowered to think critically, take risks, and challenge the status quo, to generate breakthrough solutions and drive positive change.

Summary:

We are seeking a highly motivated, collaborative, and adaptable Sr Director, Bioinformatics R&D to lead strategy and execution of advanced bioinformatics pipeline development, a core component of our diagnostic platform. The ideal candidate will bring scientific leadership, prior industry experience, and proficiency working with high-dimensional, multi-modal datasets. The role will include building and transforming our bioinformatics capabilities while working with our scientific team, collaborating with external sequencing partners, and ultimately establishing bioinformatics as a key pillar for diagnosing rare disease.

Responsibilities:

• Grow and direct a team in order to develop infrastructure and new algorithms for analyzing DNA, RNA and proteomic data.
• Formulate and implement strategic plans for bioinformatics solutions to meet immediate and future business objectives.
• Oversee planning, designing, development, and implementation of bioinformatics infrastructure, including data, hardware, software components, and system integration.
• Collaborate with internal teams to drive programs from the Innovation Lab into production use.
• Develop and deploy novel bioinformatics analyses and tools and monitor emerging technologies.
• Work closely with cross-functional teams, including researchers from various fields to design experiments and develop research questions.
• Contribute to monthly executive team meetings with strategic proposals for accelerating bioinformatics improvements, roadmaps for transforming existing capabilities, and status reports for ongoing bioinformatics R&D projects.
• Design and develop guidelines and processes to ensure high levels of quality and efficiency for genetic testing and rare disease diagnostics.
• Ensure regulatory compliance for bioinformatics technology development and operations.
• Provide advice, guidance, and mentoring to bioinformatics staff.

People Manager:

• Yes

Education, Experience, and Skills:

• Advanced degree (Ph.D. preferred) in Bioinformatics, Computational Biology, or a related field
• Extensive experience in bioinformatics, with a strong background in computational analysis and tool development
• Proficiency in programming languages (e.g., Python, R) and bioinformatics software
• Proven ability to lead and manage bioinformatics teams and/or projects
• Excellent communication skills for interacting with stakeholders and presenting findings

Physical Demands:

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

Work Environment:

• Fully remote.

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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.