Genomics Clinical Variant Analyst II - Next Generation Seq

The Genomic Clinical Variant Analyst II is part of the Genomic Clinic Analysis Team (GCAT), responsible for accurately identifying and classifying variants within the Steve and Cindy Rasmussen Institute for Genomic Medicine. The Variant Analyst II will review and document variants following practice guidelines under the direction of the Laboratory Directors and Variant Scientists. The Variant Analyst II will assist with the day to day operations of variant assessment, curation, and documentation to accurately identify and classify genomic alterations detected through genomic testing and translational studies.

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PRINCIPAL DUTIES AND RESPONSIBILITIES

Understands and demonstrates Nationwide Children's Hospital Staff Core Competencies.
• Performs technical and quality review of molecular genomic data, including troubleshooting, where needed.
• Demonstrates ability to provide accurate and timely variant assessment according to established workflows and criteria based on the American College of Medical Genetics and Genomics (ACMG) guidelines as well as the Association for Molecular Pathology (AMP), American Society of Clinical Oncology (ASCO), and College of American Pathologists (CAP) guidelines for the interpretation and reporting of sequent variants in cancer.
• Demonstrates ability to provide accurate evaluation and interpretation of published literature and clinical data, including correlation of the variant and gene with patient phenotype, or disease state.
• Maintains ongoing knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
• Assists with research, development, validation, and documentation of new genomic assays.
• Thoroughly documents findings, per laboratory standard operating procedures.
• Utilizes a variety of packaged and in-house software tools to perform research and generate clinical reports.
• Performs quality control functions for laboratory workflow processes.
• Demonstrates self-management skills. Demonstrates the ability to work efficiently and independently, promoting a team environment and maintaining a cooperative and supportive atmosphere.
• Demonstrates knowledge of and upholds applicable laws and regulations related to position and clinical laboratories.
• Maintains knowledge of techniques, procedures, and protocols, lab-wide and within lab section. Reviews and acknowledges procedures as required.
• Assists in process development/improvement within the department including participating in quality assurance, continuing education programs, and department meetings.
• Demonstrates the discipline-specific technical and computer skills required for the appropriate section of the laboratory. Provides courteous and informative internal and external customer service
• Treats each patient/family as a top priority
• Takes responsibility to resolve customer's concerns
• Assures that the customer's expectation drives behaviors
• Continuously improves the quality of the services offered
• Ensures turnaround times are met with quality results
• Aspires to the NCH Vision o Best Outcomes in everything we do, together delivering the best health care for children. o Enhancing the health of children by engaging in high-quality, cutting-edge research according to the highest scientific and ethical standards.
• Commits to the NCH core values o Do the right thing o Create a safe day every day o Promote health and well-being o Are agile and innovative o Get results

KNOWLEDGE, SKILLS AND ABILITIES REQUIRED

• Advanced degree in molecular genetics, human genetics, genetic counseling, molecular pathology, or computational field or bachelor's degree with at least 5 years total experience in Laboratory Genetics, Cancer Genomics, or a related field.
• Moderate knowledge of principles of variant interpretation and analysis, including Human Genome Variation Society nomenclature.
• Moderate familiarity with bioinformatic processes and concepts such as variant discovery, including a knowledge of some genomic software including genome browsers and human variant databases.
• Strong analytical skills, attention to detail, and the ability to critically read and interpret data independently from scientific publications.
• Ability to perform advanced technical writing, as well as excellent communication and computer skills.
• Good organizational and interpersonal skills.
• Ability to initiate and work on several projects at a time with minimal supervision; motivation to follow through to completion while adhering to deadlines and maintaining accurate records.

Minimum Physical Requirements

• The position requires excellent manual dexterity, good visual acuity and hearing, and excellent communication skills as well as a better-than-average ability to write. Physical activities frequently include sitting, talking on the phone or in person, utilizing fine motor skills, standing, walking, and occasionally lifting up to 30 pounds independently.
• The above list of duties is intended to describe the general nature and level of work performed by individuals assigned to this classification. It is not to be construed as an exhaustive list of duties performed by the individual so classified, nor is it intended to limit or modify the right of any supervisor to assign, direct, and control the work of employees under his/her supervision.
• EOE M/F/Disability/Vet