Clinical Genomics Scientist
Apply NowCompany: Fabric Genomics
Location: Oakland, CA 94601
Description:
About us
Fabric Genomics provides end-to-end genetic analysis for hospital-based, academic, and reference laboratories. This includes quality control, triage, case interpretation, variant classification, and reporting within a CLIA/CAP regulated environment. We review thousands of genomes, exomes, and panels each year and work with some of the top institutions in the world.
The Role
Operating independently, under the broad supervision of the Head of Clinical Services, on the Clinical Services team, the Clinical Genomics Scientist will work on patients' molecular reports for clinical utility. This role is responsible for classification and reporting of inherited sequence variants identified through targeted NGS DNA sequencing panel testing or WES/WGS-panel case review in a high throughput clinical laboratory setting. The CGS contributes to data sharing, supports gene and panel content development for a wide array of disorders, and helps perfect our in-house semi-automated rule-based classification platform. The CGS also helps our R/D team to explore automated approaches to scale up our ever-growing variant classification needs.
Responsibilities
Qualifications
Physical demands of the job:
Working Conditions:
Job Features:
WHY YOU SHOULD APPLY
Making a Difference - We are a fast-paced pre-IPO company. We are trailblazers, tenaciously deciphering human biology. Come join us to change patient care and to ensure precision medicine is the standard of care for all.
Benefits - Competitive compensation, including rich health benefit packages and premium coverage, time off and parental leave.
Fabric Genomics is an equal opportunity employer.
Fabric Genomics provides end-to-end genetic analysis for hospital-based, academic, and reference laboratories. This includes quality control, triage, case interpretation, variant classification, and reporting within a CLIA/CAP regulated environment. We review thousands of genomes, exomes, and panels each year and work with some of the top institutions in the world.
The Role
Operating independently, under the broad supervision of the Head of Clinical Services, on the Clinical Services team, the Clinical Genomics Scientist will work on patients' molecular reports for clinical utility. This role is responsible for classification and reporting of inherited sequence variants identified through targeted NGS DNA sequencing panel testing or WES/WGS-panel case review in a high throughput clinical laboratory setting. The CGS contributes to data sharing, supports gene and panel content development for a wide array of disorders, and helps perfect our in-house semi-automated rule-based classification platform. The CGS also helps our R/D team to explore automated approaches to scale up our ever-growing variant classification needs.
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
Qualifications
- 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
- Three (3) years of relevant variant interpretation experience highly preferred
- Cancer, cardiac, immunological experience preferred
- 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
Physical demands of the job:
- Position requires viewing a computer screen for prolonged periods of time
- Requires use of a computer keyboard, use of a telephone or internet conferencing software for meetings
- Requires independent judgment and ability to operate in a time-sensitive and potentially stressful environment, interact with professional and medical staff and exercise appropriate discretion in handling of patient data and PHI
Working Conditions:
- The individual will NOT be exposed to biohazardous or chemical materials
Job Features:
- Full time
- Flexible hours, typically M-F during Pacific time zone working hours
- Hybrid strongly preferred (office is in downtown Oakland, California); fully remote candidates will be considered
- Pay: $110,000-$130,000 per year based on experience level
- Eligible for yearly bonus based on company performance after completing 1 full year of service
- Health, dental, and vision benefits
- Paid time off
WHY YOU SHOULD APPLY
Making a Difference - We are a fast-paced pre-IPO company. We are trailblazers, tenaciously deciphering human biology. Come join us to change patient care and to ensure precision medicine is the standard of care for all.
Benefits - Competitive compensation, including rich health benefit packages and premium coverage, time off and parental leave.
Fabric Genomics is an equal opportunity employer.