Responsibilities include variant analysis of diagnostic molecular genetic test results; 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. Write research articles in collaboration with other medical professionals and colleagues outside and inside the organization, if data is relevant to the scientific community. Additional responsibilities as designated by supervisor/manager and/or with increasing seniority.
Position Duties & Responsibilities:
- Write and interpret molecular test results, including relevant medical literature reviews and summary
- Participate in updating variant classification guidelines and developing gene specific classification guidelines
- Research novel ways to assess sequence variants
- Manage and follow guidelines of variant pre-classification workflow to maximize reporting results within published turn-around times
- Assist in the development of gene specific tools and database of gene specific information for variant assessment
- PhD and/or MD with expertise in molecular genetics, human genetics, molecular pathology or related field
- Thorough and ongoing knowledge of current theories and principles of human genetics
- Excellent written and verbal communication skills to convey difficult information in a clear, kind, and respectful manner
- Willingness and ability to work in and contribute to a fast-paced, highly collaborative environment
- Prior experience in reporting specialty and variant assessment preferred
- Statistical and computational experience preferred
- This position may sit remote anywhere in the United States. Location and schedule is subject to change at any time for any reason.
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. We also support those with genetic conditions through the Mauli Ola Foundation and other nonprofit organizations.
At Ambry you will be learning, challenging yourself, and having fun while collaborating with teammates through the open exchange of ideas. Employees at Ambry Genetics have many perks, including an onsite café with complimentary smoothies and infused waters! We also offer access to gym memberships, onsite food trucks, “Lunch and Learns,” and more. Our outstanding benefits program includes medical, dental, vision, 401k, FSA, and generous paid time off (PTO) program. Ambry Genetics is an Equal Opportunity Employer (EOE) and we maintain a drug-free work environment.
Ambry Genetics is 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.