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

Date Posted: 1/23/2019

Job Snapshot

Job Description

Schedule: Tuesday-Saturday 12pm-830pm

BASIC FUNCTION AND SCOPE OF THE POSITION: 

Investigates the pathogenicity of DNA sequence variants found real-time in
patients. Customizes clinical report text in collaboration with genetic
directors and counselors.  Curates variant database with all pertinent
findings.

IMPACT: Successful performance of job duties contributes to the achieved expected TAT
of testing and quality result analysis with enhanced reporting.

ESSENTIAL JOB DUTIES:
Investigate the clinical significance of gene variants found during genetic
testing; search internal datasets as well as published literature, online
mutation databases, or other academic resources; prepare variant assessment
summaries; maintain internal variant database for different disease/assay
areas. Assist genetic directors and counselors in preparing reports and perform
additional tasks when necessary.

POSITIONS SUPERVISED:
None.

SUPERVISION RECEIVED:
Works under general supervision, receiving instructions on specific assignment
objectives, complex features, and possible solutions. Assistance is furnished
on unusual problems and work is reviewed for application of sound professional
judgment.

INTERFACE WITH OTHERS:

INTERNAL: Various facets of Laboratory Operation,  Medical group, R&D
group.   

EXTERNAL: Mutation database curators, journal article authors, clinical and
research experts in the field.

WORKING ENVIRONMENT:
The work environment characteristics described here are representative of those
an employee encounters while performing the essential duties of this job.
Reasonable accommodations may be made to enable individuals with disabilities
to perform the essential functions. Job duties are performed in an office
setting, but may involve visiting the laboratory environment that is utilizing
standard lab equipment. Laboratory duties are not part of the work environment,
but if visiting the laboratory the individual may encounter lab personnel
performing operations that include the use of chemicals which require following
safe handling procedures. The noise level in the work environment is usually
moderate. 

PROTECTIVE CLOTHING:
Work performed in designated areas may require the use of appropriate safety
precautions and protective equipment.

NOTE: THIS POSITION DESCRIPTION IN NO WAY STATES OR IMPLIES THAT THESE ARE THE
ONLY DUTIES/FUNCTIONS TO BE PERFORMED BY THE INCUMBENT.  EMPLOYEES WILL BE
REQUIRED TO FOLLOW ANY OTHER JOB-RELATED INSTRUCTIONS AND TO PERFORM ANY OTHER JOB RELATED DUTIES/FUNCTIONS REQUESTED BY THEIR SUPERVISOR.