Summary
At GeneDx, we are advancing precision medicine by harnessing the power of genomics and data science. As the Clinical Informatics Lead, you’ll play a key role in advancing InfinityTM, the largest rare disease dataset. You will lead the data science and analytics efforts that underpin our real-world data (RWD) and real-world evidence (RWE) product offerings. You will work closely with product leads and commercial, medical affairs, R&D, research, and engineering stakeholders to deeply understand our clinical and genomic data, helping to shape how data is structured, analyzed, and delivered to external partners such as biopharma, payers, and researchers. Your expertise will be critical in defining registry data models, supporting the development of high-quality data products, and ensuring that our analytic outputs are robust, actionable, and aligned with both internal and external stakeholder needs. This is an ideal role for someone who thrives at the intersection of EHR/genomic data expertise, hands-on analytics, and collaborative problem solving.
Job Responsibilities
- Collaborate with product leads and cross-functional teams to understand business and partner requirements and translate them into analytic and data product specifications.
- Lead the data science and analytics work to shape, structure, and define target schemas for large-scale clinical and genomic datasets, supporting the development of RWD/RWE assets and data products.
- Develop high-quality analytic outputs (studies, dashboards, benchmarks) that demonstrate GeneDx’s unique value and inspire partners to apply insights to address high-priority healthcare challenges.
- Wrangle, clean, and analyze large-scale healthcare datasets using SQL, R, and/or Python to scope analytic use cases, assess feasibility, and deliver studies and dashboards within agreed timelines.
- Build reproducible queries and workflows to support data product development, cohort building, and analytic deliverables.
- Validate data quality, investigate data issues, and provide feedback to inform product development and data engineering efforts.
- Apply knowledge of clinical terminologies (ICD, SNOMED, LOINC, RxNorm, NDC) and data standards (HL7, FHIR) to ensure data products are interoperable and meet industry requirements.
- Engage with clinical, quality, and operational leaders by delivering case studies, interactive demos, and analytic outputs that showcase GeneDx’s differentiated capabilities.
- Use AI and advanced analytics thoughtfully to accelerate insight generation, test hypotheses, and support data-driven decision-making.
- Clearly communicate complex findings, data product capabilities, and recommendations to both technical and non-technical audiences.
- Mentor and support junior analysts, fostering their professional growth and development.
- Stay current with industry trends, regulatory requirements, and advancements in clinical informatics, genomics, and digital health.
People Manager
Education, Experience, and Skills
- 5+ years of progressive experience in clinical informatics, healthcare data analysis, or real-world data (RWD) analytics, with a proven track record of leading complex analytics projects or initiatives.
- Demonstrated expertise in wrangling, analyzing, and interpreting large-scale EHR, clinical, or genomic datasets using SQL, R, and Python.
- Experience designing and implementing data models, target schemas, and analytic workflows for large relational databases with millions of patient records.
- Proven ability to translate business and clinical requirements into actionable analytic solutions and data product specifications.
- Strong knowledge of clinical terminologies (ICD, SNOMED, LOINC, RxNorm, NDC) and healthcare data standards (HL7, FHIR), with experience ensuring interoperability and regulatory compliance (e.g., HIPAA, GDPR).
- Experience building and delivering dashboards, benchmarks, or metrics that drive measurable improvement in health system operations, quality outcomes, or population health.
- Demonstrated leadership in cross-functional teams, including mentoring or coaching junior analysts and collaborating with product, engineering, clinical, and business stakeholders.
- Excellent communication skills, with the ability to present complex analytic findings and recommendations to both technical and non-technical audiences, including clinicians, executives, and external partners.
- Proficiency in data visualization tools and advanced analytics techniques, with a passion for leveraging data to drive healthcare innovation.
- Experience working in startup or rapidly evolving data programs is a plus.
- Advanced degree (MS, PhD, or equivalent experience) in Clinical Informatics, Data Analysis, Epidemiology, Public Health, Bioinformatics, Computer Science, Health Information Management, or a related field.
Certificates, Licenses, Registrations
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)
Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions of this position.
Acknowledgements
The above job description is not intended to be an all-inclusive list of duties and standards of the position. Incumbents will follow any other instructions, and perform any other related duties, as assigned by their supervisor.
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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.
