Note: The job is a remote job and is open to candidates in USA. GeneDx delivers personalized and actionable health insights through genomic testing and clinical data to advance precision medicine. The Clinical Genomics Scientist classifies and interprets inherited genetic variants, prepares clinical reports, performs quality control, curates genomic data, and supports process, technology, and research initiatives.
Responsibilities
- Classify and interpret human genetic/genomic variants in panel tests and/or whole exome/genome NGS sequencing tests based on Fabric’s SOPs using ACMG criteria
- Triage variants from whole exome/genome sequencing tests to determine phenotypic overlap
- Utilize a variety of in-house software tools to analyze clinical molecular data
- Read and interpret scientific literature and curate relevant findings in a clear, concise, and precise manner
- Maintain tracking documents in relation to the variant-classification process
- Summarize inherited genetic test results to generate high quality clinical reports
- Perform critical quality control functions for molecular reports that complies with quality management programs and SOPs
- Communicate frequently with the laboratory directors, medical geneticists and other Clinical Genomic Scientists regarding variant assessment
- Support improvements for current processes
- Curate variants, genes, and diseases for scientific and clinical relevance
- Interact with the software development/IT/bioinformatics group(s) regarding technology needs as and when required
- Opportunity to take part in company projects, publications and posters at scientific meetings of relevance to the organization
- May help train junior team members
Skills
- Minimum of a Masters degree in genetic analysis or genetic counseling with a strong background in human genetics or PhD degree in life science (genetics, molecular biology, or Biological Sciences)
- Minimum 1 year of experience in classifying variants based on ACMG guidelines in a clinical setting required
- Strong analytical capabilities, clinical report writing skills, and the ability to critically review, comprehend, ascertain and document relevant clinical and function data from scientific publications and online databases
- Must have utmost attention to details and the ability to accurately follow formal documentation and SOPs
- Proficiency in large NGS datasets, human mutation databases, in silico tools, genome browsers, and HGVS nomenclature
- Ability to meet production timelines with a sense of urgency and ethical responsibility in a rapidly evolving dynamic setting
- Ability to work in both an individual and group setting. Must be flexible and able to adjust priorities according to workload or management needs
- This is a fully remote position. The employee will work from a home office or other suitable remote location with reliable high-speed internet access
- Sitting for extended periods (up to 8 hours per day)
- Repetitive use of hands and fingers for typing and mouse operation
- Visual acuity for reading computer screens and documents
- Ability to communicate effectively in person, by phone, and via video
- Occasional standing, walking, and reaching for files or supplies
- Occasional lifting of up to 15 pounds (files, office supplies, equipment)
- Ability to commute to office location as required
- Three (3) years of relevant variant interpretation experience highly preferred
- Whole genome / whole exome interpretation experience highly preferred
Benefits
- This is a fully remote position.
Company Overview
Company H1B Sponsorship