Diagnostic Specialist - Appalachia The Diagnostic Specialist (DS) is a field-based diagnostic leader responsible for educating appropriate healthcare providers on genetic testing initiatives and programs. This role establishes deep diagnostic expertise aligned with global diagnostic strategy for the assigned U.S. region.
ESSENTIAL DUTIES AND RESPONSIBILITIES: Primary Responsibility #1: Genotyping & Diagnostic Leadership
Educate on genetic testing to successfully execute our client's efforts to raise awareness of sponsored testing programs Identify educational needs among the IRD healthcare community Provide education on the availability of genetic labs performing high-quality gene analysis with appropriate IRD panels and accurate interpretation of results Primary Responsibility #2: Cross-Functional Collaboration Compliantly partner with cross-functional teams within our client's organization Contribute to ongoing development and implementation of the U.S. diagnostic strategy Primary Responsibility #3: Stakeholder Education, Training & Advocacy Identify potential Genetic Testing Key Opinion Leaders (KOLs) with educational needs pertaining to genetic testing and programs, providing awareness to these HCPsAttend conferences to learn and understand diagnostic programs and testing Participate where compliant, in advocacy, outreach, and engagement with local organizations Deliver high-quality education and provide insights to inform strategy Educate HCPs and associated internal partner labs for seamless sponsored testing utilization Provide education for HCPs regarding resources for questions and follow up from the testing labs Provide expertise for IRD gene panels and best practices for test requisition forms Demonstrate a commitment to diversity, equity, and inclusion through continuous development, modeling inclusive behaviors, and proactively managing bias. All other duties as assignedEXPECTATIONS OF THE JOB:Extensive travel required. Must be capable of traveling long distances via various modes of transportation including car, plane, train Must be comfortable working with modern electronic hardware and AI including Microsoft Co-pilot, ChatGPT, Grok, etc.
MINIMUM KNOWLEDGE, SKILLS AND ABILITIES:
The requirements listed below are representative of the experience, education, knowledge, skill and/or abilities required. BA/BS required; healthcare degree strongly preferred (MS, RN, PA, PharmD, PhD) Minimum 7+ years of pharma/biotech experience in commercial, clinical/medical, or diagnostics Proven success working in high-performing, diverse teams Experience collaborating with KOLs, labs, and internal/external stakeholders Prior experience in rare or ultra-rare diseases with strong patient focus preferred Diagnostic and scientific acumen Strategic thinking and operational capability Ability to succeed in matrixed environments Persistence, resilience, and achievement orientation Excellent communication and presentation skills Cross-functional capability and strong ethical standards Knowledge of ophthalmology strongly preferred
