Associate Director, Medical Diagnostics, Rare Diseases

<p>Who We Are <br /><br />BioMarin is a leading rare disease biotechnology company focused on genetically defined conditions.<br /><br />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.<br /><br />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. <br /><br />About Worldwide Research and Development <br /><br />From research and discovery to post-market clinical development, our R&amp;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. <br /><br /></p><p><span style="font-size: 11.0pt;">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. </span></p><p><span style="font-size: 11.0pt;">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). </span></p><p><span style="font-size: 11.0pt;">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. </span></p><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Key Responsibilities</span></b><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Diagnostic Strategy &amp; Patient Identification</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Develop and implement medical diagnostic strategies that improve identification of patients with rare genetic diseases. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Advance biomarker and genetic testing initiatives to facilitate earlier and more accurate diagnosis. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Drive improvements in diagnostic testing practices through multidisciplinary engagement with clinician healthcare, policy makers and laboratory partners. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;"> </span></span><span> </span></li></ul><p><b><span style="font-size: 11.0pt;">Scientific Engagement &amp; Disease Awareness</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Serve as a scientific resource on rare genetic diseases, biomarkers, genetic testing and diagnostic pathways. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Increase diagnostic awareness through evidence-driven approaches and stakeholder engagement. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Deliver high-quality scientific presentations to clinicians, laboratory professionals, and other healthcare stakeholders. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Laboratory &amp; External Partnerships</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Build collaborative relationships with laboratories conducting sponsored testing programs and other diagnostic partners. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Partner with laboratory organizations to improve access to appropriate biomarkers and genetic testing. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Collaborate with healthcare professionals, laboratory leaders, and policymakers to communicate disease-state information and support earlier diagnosis. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Identify opportunities to enhance laboratory utilization and diagnostic testing practices. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Innovation &amp; Healthcare Transformation</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Contribute to the development of AI-enabled and data-driven strategies that improve diagnostic speed, accuracy, and patient identification. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Utilize implementation-science methodologies to improve diagnostic workflows and healthcare system adoption. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Support initiatives leveraging electronic health records (EHRs), clinical databases, and real-world evidence to identify patients earlier in the disease journey. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Contribute to innovative diagnostic initiatives while ensuring appropriate ethical, regulatory, and compliance standards. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><span style="font-size: 11.0pt;"> </span></p><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Cross-Functional Collaboration</span></b><span style="font-size: 11.0pt;"> </span></p><p><span style="font-size: 11.0pt;">Partner closely within Medical Affairs, Genomics, Clinical Development, Commercial, Regulatory Affairs, Government Affairs, Patient Advocacy, and Data Science teams. </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Translate medical insights into actionable diagnostic initiatives that support broader organizational objectives. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Operate effectively within a matrix organization while fostering collaboration across multiple functional areas. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Qualifications</span></b><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Required</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Advanced degree required (MD, PharmD, or PhD) in Medicine, Pharmacy, Genetics, Molecular Biology, Biomedical Sciences, Public Health, or a related scientific discipline. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Minimum 8 yrs experience within Medical Affairs, Diagnostics, Precision Medicine, or Rare Diseases in the pharmaceutical or biotechnology industry. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Strong understanding of rare genetic disorders and associated diagnostic pathways. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Demonstrated knowledge of biomarkers, molecular diagnostics, genetic testing methodologies, and biochemical marker interpretation. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Experience collaborating with clinical laboratories, diagnostic partners, or sponsored testing programs. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Excellent scientific communication, presentation, and stakeholder engagement skills. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Demonstrated ability to work successfully within a cross-functional matrix organization. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Preferred</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Experience in rare disease therapeutics. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Knowledge of newborn screening techniques, policies, and public health screening programs in the United States and globally. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Experience with implementation science, real-world evidence, and healthcare data analytics. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Understanding of variants of uncertain significance (VUS) and their clinical implications. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Experience developing family screening or cascade testing strategies. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Familiarity with artificial intelligence and digital health applications in diagnostics. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Knowledge of state-based public health systems and laboratory networks. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Core Competencies</span></b><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">The successful candidate will demonstrate:</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Strong strategic thinking with the ability to translate scientific insights into actionable diagnostic initiatives. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Deep clinical understanding of rare genetic diseases, biomarkers, and diagnostic pathways. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Excellent communication and presentation skills across scientific, clinical, and executive audiences. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Outstanding relationship-building and stakeholder management capabilities. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Ability to educate healthcare professionals through meaningful, compliant scientific exchange. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Strong collaboration and influence within cross-functional teams. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">High level of initiative, accountability, and execution. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Analytical mindset with experience utilizing healthcare data to improve patient identification. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Ability to manage multiple priorities while delivering measurable results. </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Technical Expertise</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Rare genetic diseases </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Biomarkers and molecular diagnostics </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Genetic and biochemical assays </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Precision medicine </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Diagnostic pathways </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Sponsored testing programs </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Laboratory medicine </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Variants of uncertain significance (VUS) </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Newborn screening </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Public health screening programs </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Electronic health records (EHRs) </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Real-world evidence </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Implementation science </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Artificial intelligence in diagnostics </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Family screening and cascade testing </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Healthcare systems and referral pathways </span></span><span> </span></li></ul><p><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Success Measures</span></b><span style="font-size: 11.0pt;"> </span></p><p><b><span style="font-size: 11.0pt;">Success in this role will be demonstrated by:</span></b><span style="font-size: 11.0pt;"> </span></p><ul style="margin-top: 0.0in;"><li style=""><span><span style="font-size: 11.0pt;">Increased utilization of appropriate biomarker and genetic testing. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Improved awareness of rare diseases among healthcare professionals. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Earlier diagnosis and improved patient identification. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Successful partnerships with laboratories and key healthcare stakeholders. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Increased identification of undiagnosed or misdiagnosed patients. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Enhanced diagnostic pathways and referral networks. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Effective cross-functional collaboration that advances Medical Affairs objectives. </span></span><span> </span></li><li style=""><span><span style="font-size: 11.0pt;">Successful implementation of innovative diagnostic and AI-enabled initiatives that improve patient outcomes. </span></span><span> </span></li></ul><p><br /><br />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. <br /><br />Equal Opportunity Employer/Veterans/Disabled <br /><br />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.<br /><br />Ireland Safety Responsibility<br />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.</p>