Associate Director, Medical Diagnostics, Rare Diseases

Who We Are

BioMarin is a leading rare disease biotechnology company focused on genetically defined conditions.

Guided by our purpose to develop medicines that make a profound impact on people’s lives, our global teams have delivered a portfolio of therapies since our founding in 1997. Our revolutionary treatments for conditions like achondroplasia (the most common form of dwarfism), PKU (phenylketonuria), CLN2, a form of Batten disease, and a number of forms of MPS (mucopolysaccharidosis) offer new possibilities for patients and families who previously had few, if any, available options. More recently, with the close of the Amicus acquisition, our portfolio has expanded to include therapies for Fabry disease and Pompe disease, expanding our ability to reach more people living with rare genetic conditions.

Our success comes from our unwavering commitment to excellence, our deep understanding of patient needs, our scientific expertise, and our world-class manufacturing capabilities. At the heart of BioMarin is a dedicated team of the brightest minds in the industry working together to deliver innovative therapies to patients and families around the world.

About Worldwide Research and Development

From research and discovery to post-market clinical development, our R&D engine involves all bench and clinical research and the associated groups that support those endeavors. Our teams work on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with rare diseases.

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. 

Key Responsibilities 

Diagnostic Strategy & Patient Identification 

• 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.  
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Scientific Engagement & Disease Awareness 

• Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing and diagnostic pathways.  
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• Increase diagnostic awareness through evidence-driven approaches and stakeholder engagement.  
• Deliver high-quality scientific presentations to clinicians, laboratory professionals, and other healthcare stakeholders.  

Laboratory & External Partnerships 

• 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.  

Innovation & Healthcare Transformation 

• 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.  

Cross-Functional Collaboration 

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.  

Qualifications 

Required 

• 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.  

Preferred 

• 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.  

Core Competencies 

The successful candidate will demonstrate: 

• Strong strategic thinking with the ability to translate scientific insights into actionable diagnostic initiatives.  
• Deep clinical understanding of rare genetic diseases, biomarkers, and diagnostic pathways.  
• Excellent communication and presentation skills across scientific, clinical, and executive audiences.  
• Outstanding relationship-building and stakeholder management capabilities.  
• Ability to educate healthcare professionals through meaningful, compliant scientific exchange.  
• Strong collaboration and influence within cross-functional teams.  
• High level of initiative, accountability, and execution.  
• Analytical mindset with experience utilizing healthcare data to improve patient identification.  
• Ability to manage multiple priorities while delivering measurable results.  

Technical Expertise 

• Rare genetic diseases  
• Biomarkers and molecular diagnostics  
• Genetic and biochemical assays  
• Precision medicine  
• Diagnostic pathways  
• Sponsored testing programs  
• Laboratory medicine  
• Variants of uncertain significance (VUS)  
• Newborn screening  
• Public health screening programs  
• Electronic health records (EHRs)  
• Real-world evidence  
• Implementation science  
• Artificial intelligence in diagnostics  
• Family screening and cascade testing  
• Healthcare systems and referral pathways  

Success Measures 

Success in this role will be demonstrated by: 

• Increased utilization of appropriate biomarker and genetic testing.  
• Improved awareness of rare diseases among healthcare professionals.  
• Earlier diagnosis and improved patient identification.  
• Successful partnerships with laboratories and key healthcare stakeholders.  
• Increased identification of undiagnosed or misdiagnosed patients.  
• Enhanced diagnostic pathways and referral networks.  
• Effective cross-functional collaboration that advances Medical Affairs objectives.  
• Successful implementation of innovative diagnostic and AI-enabled initiatives that improve patient outcomes.  

Note: This description is not intended to be all-inclusive, or a limitation of the duties of the position. It is intended to describe the general nature of the job that may include other duties as assumed or assigned.

Equal Opportunity Employer/Veterans/Disabled

An Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race, color, religion, sex, sexual orientation, gender identity, national origin, or protected veteran status and will not be discriminated against on the basis of disability.

Ireland Safety Responsibility
Support the organisation’s commitment to environmental protection, injury prevention, and continual improvement of EHS management systems. Actively contribute to a safe and environmentally responsible workplace by identifying hazards, reporting incidents and participating in EHS initiatives and training.