Genomic Data Specialist (Fabric a GeneDx Company)

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.

Hybrid preferred (office is in downtown Oakland, California); fully remote candidates will be considered

Summary

Operating independently, under the broad supervision of the Fabric VP of Clinical Operations, on the Research & Innovation 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.

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

People Manager

Education, Experience, and Skills

Certificates, Licenses, Registrations

Physical Demands

While performing the duties of this job, the employee is frequently required to stand; sit and use hands to finger, handle, or feel. The employee is occasionally required to walk; reach with hands and arms; stoop, kneel, crouch, or crawl.

Work Environment

Pay Transparency, Budgeted Range

$105,000-$120,000 USD

Science - Minded, Patient - Focused.

At GeneDx, we create, follow, and are informed by cutting-edge science. With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care.

Experts in what matters most.

With hundreds of genetic counselors, MD / PhD scientists, and clinical and molecular genomics specialists on staff, we are the industry's genetic testing experts and proud of it. We share the same goal as healthcare providers, patients, and families : to provide clear, accurate, and meaningful answers we all can trust.

SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES.

From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way :

TECHNICAL EXPERTISE

CLINICAL EXPERTISE

Learn more About Us here.

Our Culture

At GeneDx, we are dedicated to cultivating an environment where creativity and innovation thrive. We believe in the power of community and collaboration, where diverse perspectives are embraced, and every voice contributes to our shared success. Our team is a vibrant mix of professionals who challenge and support each other in equal measure, fostering growth both personally and professionally. When you join us, you're not just taking on a job-you're joining a movement. A movement that champions curiosity, embraces change, and believes in making an impact, one patient at a time. Cultural principles we live by :

Benefits include :

GeneDx is an Equal Opportunity Employer. All privacy policy information can be found here.