Clinical Variant Scientist I

Schedule:
Monday - Friday (40 hrs/wk)
8:00 AM - 5:00 PM

Department: Genomics Analysis - 396

***Exact compensation will vary based on skills and experience.***

Primary Purpose:

The Clinical Variant Scientist is responsible for the interpretation and classification of genetic variants identified through clinical testing, ensuring accurate and clinically relevant reporting. This role involves reviewing genomic data, applying established guidelines (e.g. ACMG, AMP, ClinGen), and integrating evidence from scientific literature, databases, and internal resources. The scientist collaborates with laboratory teams, genetic counselors, and medical directors to provide high-quality variant assessments and reports that support patient care. Additional responsibilities include maintaining up-to-date knowledge of genomic research and guidelines, contributing to quality assurance processes, and assisting in the development of standard operating procedures and best practices for variant interpretation. This position requires that roughly 85-95% of time is spent on analysis of clinical cases, with the remainder of time spent on other duties. This position demands focused individuals with attention to detail and strong critical thinking skills.

About ARUP:

ARUP Laboratories is a national clinical and anatomic pathology reference laboratory and an enterprise of the University of Utah and its Department of Pathology. Based in Salt Lake City, Utah.

ARUP proudly hires top talent to create a work environment of diversity, professional growth and continuous development. Our workforce is committed to the important service we provide to over one million patients each month. We always strive for excellence and have a strong desire to have involvement with the advances in medicine and the role laboratory services plays within each patient’s life. We never forget that there is a patient behind every specimen we receive.

We are looking for individuals who want to contribute to ARUP's culture of accountability, integrity, service, and excellence. Consider joining our dynamic team."

Essential Functions:

Perform either somatic or germline variant interpretation using standard nomenclature and professional standard classification guidelines (e.g. ACMG, AMP, ClinGen).

Evaluate quality of data produced from clinical laboratory testing, primarily from next generation sequencing/massively parallel sequencing (NGS/MPS) platforms.

Research and determine clinical significance of variants based on medical literature, external databases, and computational prediction software. 

Understand basic concepts in protein structure and function, RNA splicing, and gene regulation, and how these relate to genetic mechanisms of disease and sequence variants observed in a given specimen. 

Understand experimental methods, data analysis methods, and inferences that can be applied to both single-gene experimentation and high-throughput analyses.

Collect and integrate data from multiple sources within the context of cancer biology and/or heritable disorders, and the potential impact on clinical care. 

Perform data entry with high accuracy and be able to recognize inconsistencies and initiate resolution.

Assess the plausibility of laboratory results through correlation of data with patient demographics and clinical symptoms.

Draft clinical reports with accuracy and consistency for review by medical directors.

Work effectively with other scientists, staff, directors, and management to troubleshoot unique scenarios, identify areas to optimize and improve processes, and implement changes in clinical workflows. 

Maintain continual compliance with policies, procedures, and record keeping necessary to meet the standards of regulatory agencies.

Accept, resolve, and assist in the resolution of problems. 

Perform assessment of peers performing non-waived testing as a Qualified Observer after two years’ experience.

Flexible schedule determined by operational needs and may include occasional weekends to meet clinical reporting requirements.

Other duties as assigned.

Physical and Other Requirements:

Stooping: Bending body downward and forward by bending spine at the waist.

Reaching: Extending hand(s) and arm(s) in any direction.

Mobility: The person in this position needs to occasionally move between work sites and inside the office to access file cabinets, office machinery, etc.

Communicate: Frequently and effectively communicates with others.

PPE: Biohazard laboratory environment that requires use of personal protective equipment in accordance with CDC and OSHA regulations and company policies.

ARUP Policies and Procedures: To conduct self in compliance with all ARUP Policies and Procedures.

Sedentary Work: Exerting up to 10 pounds of force occasionally and/or negligible amount of force frequently or constantly to lift, carry, push, pull or otherwise move objects.

Fine Motor Control: Picking, pinching, typing or otherwise working, primarily with fingers rather than with the whole hand as in handling.

Vision: Having close, far, and peripheral visual acuity to perform a variety of tasks such as make general observations of depth and distance.

Color Vision: Perception of and ability to distinguish colors.

Qualifications Education Required Master's Degree or better. Preferred PhD or better. Experience Required Ph.D. in genetics, molecular biology, or related biological science OR  Master’s degree in genetic counseling, genetics, molecular biology, or related biological science, and (4) years of relevant clinical work experience, including: writing, reading, and proofreading molecular genetics clinical reports Experience in critically reviewing scientific and/or medical literature Preferred Experience with germline and/or somatic variant interpretation based on professional guidelines (e.g. ACMG, AMP, ClinGen), particularly in a clinical setting Experience reviewing and analyzing NGS/MPS and/or genomic microarray data, utilizing online human genomic databases, and genomic annotation Familiarity with NGS/MPS lab and bioinformatics processes In depth knowledge of genetic mechanisms of disease relevant to somatic and/or germline variation Strong written, verbal, and interpersonal communication skills Equal Opportunity Employer/Protected Veterans/Individuals with Disabilities
This employer is required to notify all applicants of their rights pursuant to federal employment laws. For further information, please review the Know Your Rights notice from the Department of Labor.