Associate Director, Medical Diagnostics, Rare Diseases

Associate Director, Medical Diagnostics

Key Responsibilities
- Develop and implement medical diagnostic strategies to improve identification of patients with rare genetic diseases.
- Advance biomarker and genetic testing initiatives to enable earlier and more accurate diagnosis.
- Drive improvements in diagnostic testing practices through multidisciplinary engagement with clinicians, healthcare stakeholders, policymakers, and laboratory partners.
- Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing, and diagnostic pathways.
- Increase diagnostic awareness via evidence-driven approaches and stakeholder engagement.
- Deliver high-quality scientific presentations to clinicians, laboratory professionals, and healthcare stakeholders.
- Build partnerships with laboratories conducting sponsored testing programs and other diagnostic partners.
- Partner with laboratory organizations to improve access to appropriate biomarkers and genetic testing.
- Collaborate with healthcare professionals, laboratory leaders, and policymakers to communicate disease-state information and support earlier diagnosis.
- Identify opportunities to enhance laboratory utilization and diagnostic testing practices.
- Contribute to AI-enabled, data-driven strategies to improve diagnostic speed, accuracy, and patient identification.
- Use implementation science to improve diagnostic workflows and healthcare system adoption.
- Support initiatives leveraging EHRs, clinical databases, and real-world evidence to identify patients earlier.
- Contribute to innovative diagnostic initiatives while meeting ethical, regulatory, and compliance standards.
- Translate medical insights into actionable diagnostic initiatives and collaborate across Medical Affairs, Genomics, Clinical Development, Commercial, Regulatory Affairs, Government Affairs, Patient Advocacy, and Data Science.

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

Preferred
- Experience in rare disease therapeutics.
- Knowledge of newborn screening techniques/policies and public health screening programs (US and global).
- Experience with implementation science, real-world evidence, and healthcare data analytics.
- Understanding of variants of uncertain significance (VUS).
- Experience developing family screening/cascade testing strategies.
- Familiarity with AI and digital health in diagnostics.
- Knowledge of state-based public health systems and laboratory networks.

Success Measures
- Increased utilization of appropriate biomarker/genetic testing.
- Improved healthcare-professional awareness of rare diseases.
- Earlier diagnosis and improved patient identification.
- Successful lab and stakeholder partnerships; enhanced diagnostic pathways/referral networks.
- Effective cross-functional collaboration and successful implementation of innovative diagnostic/AI initiatives.