GeneDx is a patient-centric health information company that delivers personalized and actionable health insights that inform diagnosis, guide treatment and improve drug discovery. The company is transforming healthcare through its industry-leading exome and genome testing and interpretation, fueled by one of the world’s largest, rare disease data sets. GeneDx is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care.

SUMMARY

The Associate Medical Affairs Director, Platform Technologies serves as the scientific/clinical expert and ambassador for research efforts to clients, collaborators, and internal stakeholders. This individual leads, develops, and coordinates research efforts that align with company objectives and ensures projects move forward. Research efforts may include topics related to advances in next generation sequencing technology, variant classification, and the use of machine learning in a clinical laboratory setting. The Associate Medical Affairs Director leads and provides support to various internal and collaborative research projects, including communication with research partners and ordering clinicians, research study planning and design, data review and analysis, as well as abstract and manuscript creation. This individual understands and works within regulatory and ethical parameters surrounding research, such as Institutional Review Board-approved research protocols and compliance and legal guidelines.

Essential Duties and Responsibilities:

• Leads and develops the technology related research program(s) that are aligned to GeneDx’s areas of focus, serving as the program’s directly responsible individual (DRI) ensuring that research projects meet Medical Affairs objectives and progress in a timely fashion. Supports other Research Programs as needed
• Leads and develops new research studies related to advancements in next generation sequencing technology, variant classification, and the use of machine learning in a clinical lab setting,, ensuring that research studies meet Medical Affairs objectives and progress in a timely fashion.
• Works well in a team and leads a team and/or provides guidance to teammates as needed
• Acts as a subject matter expert for platform technologies in a clinical genomics laboratory setting
• Facilitates day-to-day duties for research collaborations with external partners
• Fields research requests and generates research project descriptions (scopes of work)
• Crafts data analysis plans specific to research efforts, and curates the resulting datasets prior to analysis. May perform data analyses on large datasets.
• Produces, tracks, and presents research outputs (conference abstracts, posters, presentations, manuscripts)
• Supports the GeneDx GeneMatcher team in responding to external research inquiries and facilitating candidate gene research thereby contributing to GeneDx’s new disease gene and expansion of phenotype publication portfolio
• Supports maintenance of IRB protocols and participant tracking
• May consent patients for research participation, depending on study requirements
• Facilitates Research Agreement drafting and execution
• Communicates with external and internal collaborators, patients, and research participants in a timely fashion
• Leads others to solve complex problems; uses analytical thinking, tools and judgement to identify innovative solutions
• Participates visibly in the medical genetics, genetic counseling, and patient advocacy communities
• Maintains research documentation and databases
• Utilizes a variety of in-house software tools
• May prepare or provide clinical review of materials for website, marketing materials, or other projects
• Performs other duties assigned in support of the team, department, or company objectives

Qualifications:

• Master’s degree in genetic counseling and board certification by the American Board of Genetic Counseling, or Ph.D and board certification by the American Board of Medical Genetics and Genomics (or equivalent) required
• 4+ years of experience in a clinical, academic, or industry role as a genetic counselor or board certified ABMGG fellow
• 2+ years of experience in a medical affairs role
• 2+ years of experience leading research efforts related to platform technologies
• Strong level of clinical genetics knowledge
• Ability to work cross-functionally with other teams and external collaborators to drive research programs forward
• Excellent written and verbal communication skills
• Very strong presentation and public speaking skills
• Ability to work independently and manage time effectively
• Attentive to detail
• Experience with and interest in research
• Proficient in working with databases
• Proficient with the Microsoft suite of products

Preferred:

• 2+ years of broad clinical experience in pediatric, neurology, and/or other areas of rare disease genetics
• 2+ years of prior experience in a diagnostic laboratory
• Experience working with machine learning teams and/or bioinformaticians
• Comfortable with human mutation databases, genome browsers, and HGVS nomenclature
• Strong experience with statistical analysis