Genomic Variant Scientist, remote opportunity in Marlborough, MA at Quest Diagnostics

Date Posted: 8/27/2021

Job Snapshot

  • Employee Type:
    Full-Time
  • Location:
    200 Forest Street
    Marlborough, MA
  • Experience:
    Not Specified
  • Date Posted:
    8/27/2021
  • Job ID:
    req71847

Job Description

Look for more than answers.

At Quest, we are on a continuous journey of discovery and development. It’s this attitude that has made us an industry leader and the #1 Diagnostic Lab in the US. For those joining us, we offer exciting and fast-moving career opportunities where you can affect change at a rate unheard of in many organizations of our size and scope. While we invest in and develop technology to drive our innovations, our ongoing success relies on our people.

As a Genomic Variant Scientist you will work for the world leader in the industry, with a career where you will have the opportunity to collaborate and affect change while expanding your leadership skills and technical knowledge. You can make a real impact in a market that is growing and developing.

The Genomic Variant Scientist is a remote position. The selected candidate must be based in the United States. 

Genomic Variant Scientist, the role:

The Genomic Variant Scientist will play a key role in clinical operations and clinical product development for Quest Diagnostics Genomic Services. The Genomic Variant Scientist 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. This professional 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; and communicate frequently with the Laboratory Directors, Scientific Directors, Medical Directors, and Genetic Counselors regarding variant classifications and clinical report text.

Job responsibilities:

  • Accurately perform 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.
  • Help 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
  • Support 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.
  • Perform quality control testing and maintains a quality management programs according to written policies and procedures. Recognize and resolve abnormal, unusual or unexpected results; appropriately identify issues that require further action by the Manager or Director.
  • Active participate in continuing education series including journal club presentations, assay launch presentations, and complex variant discussions/presentations.

To qualify, the ideal candidate will have the following skills and experience:

  • Ph.D. with thesis (or equivalent); MS (or equivalent) with industrial experience and significant demonstration of capabilities and collaboration; BS with extensive industrial experience and significant demonstration of capabilities and collaboration.
  • Ability to generate report text for high complexity genetic tests in collaboration with genetic directors and counselors.
  • 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. 
  • Ability to adjust priorities according to workload or management needs with guidance of Manager, if needed.  
  • Able to convey ideas verbally and in writing in a detailed yet scientifically concise manner both formally and informally to supervisors and peers.
  • 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.

Apply Today

Join us for competitive benefits and development opportunities in a progressive and supportive environment. Help us improve our service, and the experiences of our patients and colleagues. Work with us and together we can be better.

Your Quest career. Seek it out.


All requirements are subject to possible modifications to reasonably accommodate individuals with disabilities. Quest Diagnostics is an Equal Opportunity Employer: Women / Minorities / Veterans / Disabled / Sexual Orientation / Gender Identity or Citizenship.