Associate Director, Medical Diagnostics, Rare Diseases
About The Position
The Associate Director, Medical Diagnostics, will play a pivotal role in advancing diagnostic excellence for patients with rare genetic diseases by developing and implementing strategies that improve disease recognition, accelerate diagnosis, and optimize patient identification. Working in the Global Medical Affairs organization, this individual will collaborate with healthcare professionals, diagnostic laboratories, public health organizations, and internal cross-functional teams to develop disease-specific diagnostic ecosystem strategies, enhance specific biomarker and genetic testing, optimize rare-disease testing and newborn screening adoption in healthcare system and identify opportunities to increase awareness of rare diseases. The role focuses on enabling earlier and accurate diagnosis through innovative diagnostic approaches, diagnostic laboratory partnerships, implementation science, and emerging technologies including artificial intelligence (AI). The successful candidate will possess strong scientific expertise in rare diseases, genetics, health care and diagnostics, along with exceptional relationship-building skills and the ability to influence diverse stakeholders within a highly collaborative, matrixed pharmaceutical organization.
Requirements
- Advanced degree required (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or a related scientific discipline.
- Minimum 8 yrs experience within Medical Affairs, Diagnostics, Precision Medicine, or Rare Diseases in the pharmaceutical or biotechnology industry.
- Strong understanding of rare genetic disorders and associated diagnostic pathways.
- Demonstrated 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 skills.
- Demonstrated ability to work successfully within a cross-functional matrix organization.
Nice To Haves
- Experience in rare disease therapeutics.
- Knowledge of newborn screening techniques, policies, and public health screening programs in the United States and globally.
- Experience with implementation science, real-world evidence, and healthcare data analytics.
- Understanding of variants of uncertain significance (VUS) and their clinical implications.
- Experience developing family screening or cascade testing strategies.
- Familiarity with artificial intelligence and digital health applications in diagnostics.
- Knowledge of state-based public health systems and laboratory networks.
Responsibilities
- Develop and implement medical diagnostic strategies that improve identification of patients with rare genetic diseases.
- Advance biomarker and genetic testing initiatives to facilitate earlier and more accurate diagnosis.
- Drive improvements in diagnostic testing practices through multidisciplinary engagement with clinician healthcare, 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 approaches and stakeholder engagement.
- Deliver high-quality scientific presentations to clinicians, laboratory professionals, and other healthcare stakeholders.
- Build collaborative relationships 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 the development of AI-enabled and data-driven strategies that improve diagnostic speed, accuracy, and patient identification.
- Utilize implementation-science methodologies to improve diagnostic workflows and healthcare system adoption.
- Support initiatives leveraging electronic health records (EHRs), clinical databases, and real-world evidence to identify patients earlier in the disease journey.
- Contribute to innovative diagnostic initiatives while ensuring appropriate ethical, regulatory, and compliance standards.
- Partner closely within Medical Affairs, Genomics, Clinical Development, Commercial, Regulatory Affairs, Government Affairs, Patient Advocacy, and Data Science teams.
- Translate medical insights into actionable diagnostic initiatives that support broader organizational objectives.
- Operate effectively within a matrix organization while fostering collaboration across multiple functional areas.
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What This Job Offers
Job Type
Full-time
Career Level
Manager
