Associate Director, Medical Diagnostics, Rare Diseases

Key Responsibilities
- Develop and implement medical diagnostic strategies to improve identification of patients with rare genetic diseases.
- Advance biomarker and genetic testing to enable earlier and more accurate diagnosis.
- Improve diagnostic testing practices via multidisciplinary engagement with clinicians, policy makers, and laboratory partners.
- Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing, and diagnostic pathways.
- Increase diagnostic awareness using evidence-driven approaches and stakeholder engagement.
- Deliver high-quality scientific presentations to healthcare stakeholders.
- Build partnerships with laboratories and diagnostic partners; improve access to appropriate biomarkers and genetic testing.
- Collaborate with healthcare professionals, laboratory leaders, and policymakers to support earlier diagnosis.
- Identify opportunities to enhance laboratory utilization and diagnostic testing practices.
- Contribute to AI-enabled and data-driven strategies; use implementation science to improve diagnostic workflows and healthcare adoption.
- Leverage EHRs, clinical databases, and real-world evidence to identify patients earlier.
- Ensure innovative diagnostic initiatives meet ethical, regulatory, and compliance standards.
- Translate medical insights into actionable diagnostic initiatives and collaborate across a matrix organization.

Qualifications
Required
- Advanced degree (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or related.
- Minimum 8 years’ experience in Medical Affairs, Diagnostics, Precision Medicine, or Rare Diseases (pharma/biotech).
- Strong understanding of rare genetic disorders and diagnostic pathways.
- Knowledge of biomarkers, molecular diagnostics, genetic testing methods, and biochemical marker interpretation.
- Experience collaborating with clinical laboratories/diagnostic partners/sponsored testing programs.
- Excellent scientific communication, presentation, and stakeholder engagement.
- Proven ability to work in a cross-functional matrix.

Preferred
- Experience in rare disease therapeutics.
- Knowledge of newborn screening/policies and public health screening programs (US and global).
- Implementation science, real-world evidence, and healthcare data analytics experience.
- Understanding of VUS and clinical implications; family screening/cascade testing experience.
- Familiarity with AI/digital health in diagnostics.
- Knowledge of state-based public health systems and laboratory networks.