Genetic Analyst/Variant Curator

MINIMUM QUALIFICATIONS:
EDUCATION, CERTIFICATION, AND/OR LICENSURE:
1. Master's degree in molecular genetics, human genetics, molecular pathology, biology, or related science field.
PREFERRED QUALIFICATIONS:
EDUCATION, CERTIFICATION, AND/OR LICENSURE:
EXPERIENCE:
1. Experience with variant interpretation in a CLIA certified diagnostic laboratory including those with Genetic Counseling backgrounds.
2. Working knowledge of human genetics and diagnostic genetic testing concepts.
3. Strong understanding of biology, molecular mechanism, and functional studies of human genetic disease genes.

CORE DUTIES AND RESPONSIBILITIES: The statements described here are intended to describe the general nature of work being performed by people assigned to this position. They are not intended to be constructed as an all-inclusive list of all responsibilities and duties. Other duties may be assigned.
1. Assist in the analysis of multiple types of clinical genomic datasets following practice guidelines under the direction of the Laboratory Directors.
2. Demonstrate ability to understand, synthesize, and coherently evaluate complex genetic information.
3. Conduct curation of variants identified through whole exome, targeted NGS panels and other molecular tests.
4. Compile and distill information from multiple sources including scientific literature and publications.
5. Under directors general direction, independently perform interpretation of genomic variants following ACMG/ASCO/AMP and established laboratory determined practice guidelines.
6. Provide preliminary draft of clinical testing result report according to internal and professional standards.
7. Participate in presenting findings at internal/external clinical genomic meetings.
8. Learns and consistently follows the approved standard operating procedures for performing data analysis and case management, communicating with technical and non-technical staff, and documenting findings.
9. Efficient time management to meet the demands of clinical workload and ability to support rapid analysis for critical patient needs.
10. Willingness to adapt responsibilities as related to changes in the field of genomics.
11. Assists with research, development, validation, and documentation of new genomic assays.
12. Participate and perform quality control/quality assurance activities related to molecular pathology.
13. Participates in procedure review and writing when requested.
14. Supports teaching and training efforts for employees, residents, students, team members and colleagues when requested.

PHYSICAL REQUIREMENTS: The physical demands described here are representative of those that must be met by an employee to successfully perform the essential functions of this job. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.
1. Able to stand and/or sit for long periods of time.
2. Visual acuity must not be impaired.

WORKING ENVIRONMENT: The work environment characteristics described here are representative of those an employee encounters while performing the essential functions of this job. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.
1. May be exposed to specimens containing infectious diseases.

SKILLS AND ABILITIES:
1. The ability to critically read, understand, and interpret data from scientific publications. Cross-disciplinary and strong analytical skills as well as broad experience using computational methods, databases, software and hardware.
2. Familiarity with Germline databases, Sanger Sequencing and Next-generation sequencing (NGS).
3. Ability to communicate verbally, written and electronically with healthcare personnel.
4. Able to follow complex procedures with minimal guidance.

Additional Job Description:

Scheduled Weekly Hours:

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Equal Opportunity Employer

West Virginia University Health System and its subsidiaries (collectively "WVUHS") is an equal opportunity employer and complies with all applicable federal, state, and local fair employment practices laws. WVUHS strictly prohibits and does not tolerate discrimination against employees, applicants, or any other covered persons because of race, color, religion, creed, national origin or ancestry, ethnicity, sex (including gender, pregnancy, sexual orientation, and gender identity), age, physical or mental disability, citizenship, past, current, or prospective service in the uniformed services, genetic information, or any other characteristic protected under applicable federal, state, or local law. All WVUHS employees, other workers, and representatives are prohibited from engaging in unlawful discrimination. This policy applies to all terms and conditions of employment, including, but not limited to, hiring, training, promotion, discipline, compensation, benefits, and termination of employment.