Associate Director, Medical Diagnostics, Rare Diseases
BioMarin Pharmaceutical Inc.
August 16, 2026
Remote friendly (San Rafael, CA)
United States
Medical Affairs
Associate Director, Medical Diagnostics — Global Medical Affairs
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, more accurate diagnosis.
- Improve diagnostic testing practices through 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 through evidence-driven stakeholder engagement; deliver scientific presentations.
- Build and manage external partnerships with laboratories and diagnostic partners (including sponsored testing programs) to improve access and utilization.
- Collaborate with healthcare professionals, laboratory leaders, and policymakers to support earlier diagnosis.
- Contribute to AI-enabled, data-driven and implementation-science strategies to improve diagnostic speed, accuracy, workflows, and healthcare adoption.
- Use EHRs, clinical databases, and real-world evidence to identify patients earlier; ensure ethical/regulatory/compliance standards.
- Translate medical insights into actionable diagnostic initiatives across a matrix organization.
Qualifications
Required
- Advanced degree (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or related.
- 8+ years 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, and biochemical marker interpretation.
- Experience with clinical laboratories/diagnostic partners or sponsored testing programs.
- Strong scientific communication, presentation, and stakeholder engagement; cross-functional matrix effectiveness.
Preferred
- Rare disease therapeutics experience.
- Newborn screening/public health screening knowledge (US/global).
- Implementation science, real-world evidence, healthcare data analytics.
- VUS understanding; family screening/cascade testing experience.
- AI and digital health familiarity in diagnostics.
- Knowledge of state-based public health systems and laboratory networks.
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, more accurate diagnosis.
- Improve diagnostic testing practices through 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 through evidence-driven stakeholder engagement; deliver scientific presentations.
- Build and manage external partnerships with laboratories and diagnostic partners (including sponsored testing programs) to improve access and utilization.
- Collaborate with healthcare professionals, laboratory leaders, and policymakers to support earlier diagnosis.
- Contribute to AI-enabled, data-driven and implementation-science strategies to improve diagnostic speed, accuracy, workflows, and healthcare adoption.
- Use EHRs, clinical databases, and real-world evidence to identify patients earlier; ensure ethical/regulatory/compliance standards.
- Translate medical insights into actionable diagnostic initiatives across a matrix organization.
Qualifications
Required
- Advanced degree (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or related.
- 8+ years 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, and biochemical marker interpretation.
- Experience with clinical laboratories/diagnostic partners or sponsored testing programs.
- Strong scientific communication, presentation, and stakeholder engagement; cross-functional matrix effectiveness.
Preferred
- Rare disease therapeutics experience.
- Newborn screening/public health screening knowledge (US/global).
- Implementation science, real-world evidence, healthcare data analytics.
- VUS understanding; family screening/cascade testing experience.
- AI and digital health familiarity in diagnostics.
- Knowledge of state-based public health systems and laboratory networks.