Director, Medical Affairs – US Hereditary Disease

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Position Summary

Illumina, Inc. is seeking a board-certified clinical laboratory molecular geneticist with experience in hereditary disease screening and diagnostic genetic testing. This position is part of the Global Medical Affairs organization, reporting to the Senior Director of Medical Affairs, AMR Hereditary Disease at Illumina. This role will have the responsibility for executing the medical affairs strategy in the United States in close coordination with the company’s strategic goals. The individual in this role will represent Medical Affairs within cross-functional teams focused on hereditary disease and reproductive genetics, working closely with Commercial, Business Development, Pharma, R&D, Product Marketing, Regulatory, Bioinformatics, Assay Development, and Quality teams. This position is also responsible for medical research and evidence generation in hereditary disease to drive broader adoption of genomics in healthcare, supporting commercial team strategies with medical affairs resources, providing scientific education on hereditary disease genomics, and influencing product development for hereditary disease genomics.

The ideal candidate would have a history of successful impact at clinical genomics laboratories utilizing next-generation sequencing technologies for hereditary disease screening and diagnostics. It is important that the candidate has had experience and interest in operating at the intersection of medical and commercial activities. This candidate has a background in molecular and cytogenetic methods used for hereditary disease genetic screening and diagnostics, including for reproductive carrier screening, non-invasive prenatal screening, prenatal diagnostic genetic testing, congenital genetic disorders, neurological genetic disorders, hereditary cancer, cardiovascular disorders, metabolic disorders, rare disease, and pharmacogenetics. The candidate must have a solid understanding of the trends in professional practice in medical genetics in the United States and a wide network of connections with key opinion leaders. The candidate must have demonstrably deep understanding of the trends in next-generation sequencing, clinical laboratory practices and their regulatory oversight, and technologies broadly deployed in hereditary disease genetic screening and diagnostics. The candidate must have a strong record of research and publications in hereditary disease.

Position Responsibilities

• Represent medical affairs by providing clinical expertise in interactions with Illumina’s sales and marketing, business development and other commercial functional groups, as needed.
• Actively participate in the product development process in R&D to guide specifications for Illumina’s RUO and IVD products.
• Work closely with Marketing, Marketing Development, Assay/Product Development as well as product life cycle team to support the execution of the product launch strategy, and ensure internal and external launch readiness.
• Execute US medical affairs strategies for evidence generation and scientific communication for hereditary disease diagnostic genetic testing, reproductive genetic screening, newborn sequencing, and broad population screening.
• Support development and execution of a comprehensive portfolio of high-caliber medical collaborative research in hereditary disease, reproductive genetics, population screening, and other areas of germline medical genetics.
• Collaborate with Market Access to strategize and develop the necessary evidence to improve reimbursement for hereditary disease genomics.
• Lead the development of scientific and medical education content and in-house training for the medical affairs team and other appropriate staff as required, and ensure suitability of training content for clinical specialists in collaboration with Marketing and other relevant internal stakeholders.
• Build sustainable partnerships with US key opinion leaders to ensure that Illumina’s hereditary disease diagnostics and reproductive genetics screening product portfolios are appropriately incorporated and positioned in clinical care guidelines by providing balanced, non-comme