The Genomic Variant Scientist will play a key role in clinical operations and clinical product development as part of the variant science team, Variant IQTM, at Quest Diagnostics Inc. 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 that are identified through exome sequencing, targeted NGS panels, and/or Sanger DNA sequencing platforms in a clinical diagnostic laboratory setting.
Responsibilities:- Accurately performs pathogenicity assessments of DNA variants and curation and classification of genes to a disease association by reviewing data collected from internal and external databases as well as published literature as defined in Standard Operating Procedures (SOPs).
- Ability to generate clinical report text for high complexity genetic tests in collaboration with genetic directors and counselors.
- Helps define and hone variant curation strategies (including disease allele frequency calculations, gene specific rules, and special assessment notes), variant assessment process, interpretation process, and reporting process on an ongoing basis.
- Develop strong cross-functional relationships within the Research and Development and Operations teams.
- Supports group projects through tasks including but not limited to gathering and/or interpreting data to be published or presented at a national conference; assisting with process improvement projects; or supporting new test development efforts. May participate in a lead role depending on nature of project and expertise.
- Performs quality control testing and maintains quality management programs according to written policies and procedures. Recognizes and resolves abnormal, unusual or unexpected results; appropriately identifies issues that require further action by the Manager or Director.
- Active participation in continuing education series including journal club presentations, assay launch presentations, and complex variant discussions/presentations.
Required Work Experience:
0-1 years experience
Physical and Mental Requirements:
The person must be able to sit (or stand) for long periods of time
Knowledge:
Technically proficient in a broad range of skills. Is able to resolve minor difficulties without intervention.
Skills:
- Guidance Given: Able to adjust priorities according to workload or management needs with guidance of Manager, if needed. Independently determines and develops approach to solutions. Work is reviewed upon completion for adequacy in meeting objectives.
- Assignments Received: Contributes to the completion of specific programs and projects. Failure to obtain results or erroneous decisions or recommendations would typically result in serious delays and considerable expenditure of resources.
- Communications: Able to convey ideas verbally and in writing in a detailed yet scientifically concise manner both formally and informally to supervisors and peers.
- Interactions/Liaisons: Good collaboration skills with peers. Is a reliable member of the team; treats others with respect; demonstrates a willingness to contribute; demonstrates independent thought; has a positive attitude and strong interpersonal skills.
Education:
Bachelor’s Degree (Required)
Doctorate Degree or Master’s Degree Preferred
Equal Opportunity Employer: Race/Color/Sex/Sexual Orientation/Gender Identity/Religion/National Origin/Disability/Vets or any other legally protected status.
