Translational Genomics Director

Company: Ambry Genetics
Location: Aliso Viejo
Posted on: April 24, 2025

Job Description:

$180,000 - $220,000 per year. You are eligible to a Short-Term Incentive Plan with the target at 20% of your annual earnings, terms and conditions apply.Job Overview:The Translational Genomics Director, Rare Diseases, at Ambry Genetics leads translational research and clinical liaison activities. The Translational Genomics Director works within the Research & Development department as a clinical and molecular subject matter expert to catalyze development of innovative genetic testing approaches. The Translational Genomics Director will educate the company, clinicians and policy makers on the clinical utility of Ambry's existing and developing test menu and effectively convey Ambry's mission to provide access to the most reliable and comprehensive testing. Externally, this individual engages clinical experts, guideline committees, patient advocacy groups and medical societies to promote the clinical utility of Ambry tests. Internally, this individual engages with Ambry's scientific and medical advisory committees to advise the commercial team regarding future directions of Ambry's product line in the context of the clinical needs of our medical community.Responsibilities:

• Lead translational research and peer-reviewed publication of key data.
• Analyze genetic test data and support clinical interpretation of diagnostic results.
• Network with key organizations, present data at meetings, and publish research.
• Act as key stakeholders in translational/innovation projects and connect R&D with other departments including Informatics, Clinical Diagnostics, and Medical Sciences.
• Supervise research lab staff, train, and collaborate on projects relevant to Ambry's innovation roadmap.Essential Functions:
  • Network and develop relationships with key organizations involved in Rare Diseases (e.g., GREGoR, UDN ACMG, ASHG), opinion leaders, publication and presentation of data and/or cases at local and national professional meetings, and other speaking engagements.
  • Lead publication of translational research.
  • Participate in the analysis of diagnostic molecular genetic test results performed at the Clinical and ATG Lab.
  • Perform variant assessment of alterations analyzed at the ATG Lab, including evaluation of published literature, clinical data, and review of both functional and in silico data to provide accurate, thorough, and thoughtful clinical interpretation of results.
  • Engage with external key opinion leaders, academic/medical societies and patient advocacy groups to promote the clinical utility of Ambry tests.
  • Foster relationships with potential collaborators and key opinion leaders.
  • Effectively convey Ambry's mission to provide access to the most reliable and comprehensive test for patients and their family members in internal and external interactions.
  • Work closely with Ambry's scientific and medical advisory committees to advise the commercial team regarding future directions of Ambry's product line to best suit the clinical needs of our medical community.
  • Prioritize translational research efforts based on urgency for sharing data, and feasibility with internal infrastructure.
  • Perform translational research activities in study design, the development of research protocols and IRB submissions.
  • Work closely with the marketing department to increase visibility of translational research at Ambry through all venues including conferences, website, and client interactions in the field.
  • Other duties as assigned.Qualifications:
    • Experienced, comfortable, and effective at public speaking.
    • Good organizational, time management, and communication skills.
    • 10+ years of technical knowledge of laboratory testing and terminology.
    • Capable of excelling within a team environment.
    • Capable of taking on additional projects with little to no supervision.
    • Ability to communicate effectively, attention to detail, ability to cross-reference information, ability to prioritize work, telephone skills, computer skills, working knowledge of standard office equipment (computers, printers, fax machines, phone systems, office software, and internet).Education and/or Experience:
      • PhD in Molecular Genetics, Human Genetics, or equivalent combination of education and experience.
      • Medical Degree with experience or background in molecular genetics or human genetics.About Us:Ambry Genetics Corporation is a CAP-accredited and CLIA-licensed molecular genetics laboratory based in Aliso Viejo, California. We are a genetics-based healthcare company that is dedicated to open scientific exchange so we can work together to understand and treat all human disease faster.At Ambry, everyone is welcome. A career at Ambry Genetics is a chance to be part of a dynamic company that aims to improve health by understanding the relationships between genetics and human disease. We earned our reputation as industry leaders by responsibly introducing cutting-edge genetic testing solutions and continually sharing what we learn with the global scientific community.Our outstanding benefits program includes medical, dental, vision, FSA, paid sick leave and generous paid time off (PTO) program. Ambry Genetics is an Equal Opportunity Employer (EOE) and we maintain a drug-free work environment.
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Keywords: Ambry Genetics, Corona , Translational Genomics Director, Executive , Aliso Viejo, California