Genomic Variant Scientist (Remote)

About the role

The Genomic Variant Scientist will play a key role in clinical operations and clinical product development as part of the variant science team, Variant IQ™, at Quest Diagnostics Inc. The incumbent will be responsible for the pre‑curation of genes and variants, ensuring readiness for downstream analysis, as well as real‑time curation of genes and variants identified through exome sequencing, targeted NGS panels, and/or Sanger DNA sequencing in a clinical diagnostic laboratory setting. This is a remote position; the candidate must be located in the United States.

Responsibilities

• Accurately performs pathogenicity assessments of DNA variants and curation and classification of genes to a disease association by reviewing data from internal and external databases and published literature per SOPs.
• Generates clinical report text for high‑complexity genetic tests in collaboration with genetic directors and counselors.
• Helps define and refine variant curation strategies (including disease allele frequency calculations, gene‑specific rules, and special assessment notes), variant assessment process, interpretation process, and reporting process.
• Develops strong cross‑functional relationships within Research and Development and Operations teams.
• Supports group projects such as gathering/interpreting data for publication or conference presentation, process improvement projects, or new test development efforts; may take a lead role depending on project and expertise.
• Performs quality control testing and maintains quality management programs per written policies; recognizes and resolves abnormal, unusual, or unexpected results and identifies issues requiring further action by management.
• Actively participates in continuing education activities including journal club presentations, assay launch presentations, and complex variant discussions/presentations.

Qualifications

• Required work experience: 0‑1 years.
• Physical and mental requirements: ability to sit (or stand) for long periods of time.
• Knowledge: technically proficient in a broad range of skills; able to resolve minor difficulties without intervention.
• Skills:
  • Guidance given: able to adjust priorities according to workload or management needs with guidance; independently determines and develops approach to solutions; work reviewed upon completion for adequacy.
  • Assignments received: contributes to completion of specific programs and projects; failure to obtain results or erroneous decisions would cause serious delays and considerable resource expenditure.
  • Communications: able to convey ideas verbally and in writing in a detailed yet scientifically concise manner to supervisors and peers.
  • Interactions/liaisons: good collaboration skills; reliable team member; treats others with respect; demonstrates willingness to contribute; independent thought; positive attitude; strong interpersonal skills.

Education

• Bachelor’s Degree (required).
• Doctorate or Master’s Degree preferred.

Schedule

Working hours: 8 a.m. – 5 p.m., Sunday – Thursday.