The Genomic Variant Scientist performs pathogenicity assessments and curation of genes and variants identified through various sequencing platforms. They also collaborate with genetic directors to generate clinical report text and support process improvement projects.
Requirements overview
The role requires a Bachelor's degree and 0-1 years of relevant work experience. Candidates must be technically proficient and able to work independently in a remote setting within the United States.
Quest Diagnostics (NYSE: DGX) empowers people to take action to improve health outcomes. Derived from the world's largest database of clinical lab results, our diagnostic insights reveal new avenues to identify and treat disease, inspire healthy behaviors and improve health care management. Quest annually serves one in three adult Americans and half the physicians and hospitals in the United States, and our 47,000 employees understand that, in the right hands and with the right context, our diagnostic insights can inspire actions that transform lives.
The company offers physicians the broadest test menu (3,000+ tests), is a pioneer in developing innovative new tests, is the leader in cancer diagnostics, provides anatomic pathology (AP) services, & interpretive consultation through its medical & scientific staff of about 900 M.D.s & Ph.D.s.
Quest Diagnostics offers the most extensive clinical testing network in the U.S., with laboratories in most major metropolitan areas, & in Mexico, the UK & India. The company also operates four esoteric laboratories, 40 outpatient AP laboratories, & 160 smaller, rapid-response laboratories.
Patients may have specimens collected in any of the company’s approximately 2,250 patient service centers. On a typical workday, testing is performed for about 550,000 patients.
The company is the leading provider of pre-employment drugs-of-abuse screening for employers & risk assessment services for the life insurance industry. It is the world’s 2nd largest provider of clinical trials testing for new pharmaceuticals.
More information is available at www.questdiagnostics.com. Image content features models and is intended for illustrative purposes only. May include AI-generated and/or AI-modified imagery.
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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.
This professional will work in a remote capacity and must be located in the US.
Working hours are 8a-5p, Sunday - Thursday
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.
QUALIFICATIONS
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
Quest Diagnostics honors our service members and encourages veterans to apply.
While we appreciate and value our staffing partners, we do not accept
unsolicited resumes from agencies. Quest will not be responsible for paying
agency fees for any individual as to whom an agency has sent an unsolicited
resume.
Equal Opportunity Employer: Race/Color/Sex/Sexual Orientation/Gender
Identity/Religion/National Origin/Disability/Vets or any other legally protected
status.