Genomic Variant Scientist- San Juan Capistrano, California in San Juan Capistrano, CA at Quest Diagnostics

Date Posted: 1/3/2021

Job Snapshot

Job Description

Genomic Variant Scientist- San Juan Capistrano, California - Monday-Friday

Look for more than answers.  Patients and Physicians rely on our diagnostic testing, information and services to help them make better healthcare decisions. These are often serious decisions with far reaching consequences, and require sensitivity, tact and a clear dedication to service. It’s about providing clarity and hope.

As a R&D Professional you will work for the world leader in the industry, with a career where you can expand your skills and knowledge. You’ll have a role where you can act with professionalism, you can inspire colleagues, and you can care about the work we do and the people we serve.

At Quest, our R&D Professionals play an essential role in our success and in the services we provide. As a career, we offer a unique opportunity to develop your career with the #1 Diagnostic Lab in the US. We are research and development driven, and we’re creating the lab of the future – an environment where you can deliver cutting edge diagnostics and help us drive new discoveries and breakthroughs.

The Genomic Variant Scientist will play a key role in clinical operations and clinical product development for Quest Diagnostics Genomic Services.  Incumbent will be responsible for daily processing, analysis, and interpretation of genetic variants that are identified through WES (Whole Exome Sequencing) and Targeted NGS or Sanger DNA sequencing platforms in a clinical diagnostic laboratory setting. The Genomic Variant Scientist must process and classify variants in accordance with company SOPs; maintain communication with laboratories located within or outside Quest Diagnostics; maintain tracking documents in relation to the variant classification process; report to a manager regarding variant processing status and performance; communicate frequently with the Laboratory Directors, Scientific Directors, Medical Directors, and Genetic Counselors regarding variant classifications and clinical report text.


Duties and Responsibilities:

1. Accurately performs pathogenicity assessments of DNA variants detected in patients by reviewing data collected from internal and external databases as well as published literature as defined in the corresponding Standard Operating Procedure.

2. Ability to read and interpret documents such as peer-reviewed scientific journal articles and curate pertinent data findings in a clear and detail-oriented manner. 

3. Ability to generate report text for high complexity genetic tests in collaboration with genetic directors and counselors.

4. 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.  

5. Develop strong cross-functional relationships within the Research and Development and Operations teams

6. 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.

7. Performs quality control testing and maintains a 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.

8. Active participation in continuing education series including journal club presentations, assay launch presentations, and complex variant discussions/presentations.

Supervision Exercised:  NA


Freedom to Act: NA


Technical Acumen:

Technically proficient in a broad range of skills. Is able to resolve minor difficulties without intervention.


Guidance Given: Is 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.


Administration: NA


0-1yrs experience;

BS with extensive industrial experience and significant demonstration of capabilities and collaboration.  Ph.D. with thesis  or MS preferred  with industrial experience and significant demonstration of capabilities and collaboration

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