Clinical Variant Scientist

Description

The Variant Scientist functions in the clinical lab interpretive team, evaluating genomic test results to determine the pathogenicity and clinical significance of germline and/or somatic variants. The Variant Scientist evaluates functional, computational, and clinical data to assess variant pathogenicity, and summarizes pertinent data for patient reports. The Variant Scientist develops and maintains gene-level curation resources to support clinical test interpretation. The Variant Scientist participates as appropriate in gene/variant curation-focused publications, database submissions, professional collaborations, and presentations at professional meetings. The Variant Scientist plays an active role in education and training of laboratory fellows and residents, graduate students, lab staff, and other students and trainees. The Variant Scientist contributes to ongoing process improvement in interpretive workflows and participates in new test development and implementation.

Duties:

We’re open to some flexibility with schedule once initial training is complete. We are looking for someone with direct experience performing tumor-based variant curation, ideally in a clinical lab setting for solid tumor molecular profiling testing. The Variant Scientist functions in the clinical lab interpretive team, evaluating tumor-based next generation sequencing test results for solid tumor molecular profiling. The Variant Scientist evaluates functional, computational, clinical, and other data to classify variants according to standard professional guidelines and summarizes pertinent data for patient reports.

Skills

Genetics, Medical Laboratory Technician, Medical Technologist

Top Skills Details

Genetics

Additional Skills & Qualifications

M.S., PhD, or equivalent in Genetic Counseling, Genetics, Molecular Biology, or related field.

2.5yrs + experience in germline/somatic variant interpretation is required.

Working knowledge of professional standards for variant classification, specifically ACMG Variant Classification Guidelines.

in molecular genetics, human genetics, or related medical specialties is necessary.

Should have a good understanding of sequencing technologies (Sanger and next generation sequencing).

Must have a demonstrated ability to work independently in a fast-paced environment in order to meet turn-around-time requirements.

Must have computer skills appropriate for laboratory practice.

Experience in molecular genetics, human genetics, or related medical specialties is necessary. Experience with variant evaluation for solid tumor molecular profiling, is preferred, but not required. Must have a demonstrated ability to work independently in a fast-paced, clinical laboratory environment in order to meet turn-around-time requirements. Must have computer skills appropriate for laboratory practice.

Experience Level

Expert Level