GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com.

Summary

Operating independently, under the broad supervision of the Sr Director, Clinical Interpretation & Reporting and  the SVP of Commercial Laboratories, 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.

Job 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

Education, Experience, and 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
• Three (3) years of relevant variant interpretation experience highly preferred
• Whole genome / whole exome interpretation experience highly 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

Work Environment

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. Work is performed in a climate-controlled environment using standard office equipment including computer, phone, and video conferencing tools. Your standard work schedule and hours will be established in collaboration with your leader and may be adjusted to align with evolving business needs.

Physical Demands

This is a sedentary role with physical demands including:

• 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

Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions of this position.

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