Clinical Genomics Variant Scientist

Nationwide Children's Hospital

About The Position

Overview: Job Description Summary: Accurately identifies, classifies, and documents variants following practice guidelines under the direction of the Laboratory Directors and Senior and Lead Variant Scientists. Assists 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. Job Description: Essential Functions: Performs technical review of sequencing (Sanger and Next-Generation) and other molecular data. Provides accurate and timely variant assessment, including evaluation of published literature and clinical data to provide precise, thorough, and thoughtful clinical interpretation of results. Maintains laboratory variant knowledgebase. Assists with curation and harmonization of variant classification changes over time. Maintains knowledge of CAP laboratory requirements related to sequencing and variant analysis. Writes procedures and other documents in support of ongoing laboratory accreditation. Possesses knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders. Thoroughly documents findings, per laboratory standard operating procedures. Assists with research, development, validation, and documentation of new genomic assays. Demonstrates knowledge of and upholds applicable laws and regulations. Maintains knowledge of techniques, procedures, and protocols. Reviews and acknowledges procedures as required. Assists in process development and improvement within the department including participating in quality assurance, continuing education programs, and department meetings.

Requirements

Master's Degree in molecular genetics, human genetics, or molecular pathology, required.
Strong analytical skills and ability to critically read and interpret data from scientific publications.
Ability to do technical writing, as well as good 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.
Two years of significant and relevant experience including variant classification (including Genetic Counselors with relevant experience), required.

Nice To Haves

PhD in biological sciences, preferred.
Two years of experience in genetics, preferred.
Extensive experience in data mining and organization.

Responsibilities

Performs technical review of sequencing (Sanger and Next-Generation) and other molecular data.
Provides accurate and timely variant assessment, including evaluation of published literature and clinical data to provide precise, thorough, and thoughtful clinical interpretation of results.
Maintains laboratory variant knowledgebase.
Assists with curation and harmonization of variant classification changes over time.
Maintains knowledge of CAP laboratory requirements related to sequencing and variant analysis.
Writes procedures and other documents in support of ongoing laboratory accreditation.
Possesses knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
Thoroughly documents findings, per laboratory standard operating procedures.
Assists with research, development, validation, and documentation of new genomic assays.
Demonstrates knowledge of and upholds applicable laws and regulations.
Maintains knowledge of techniques, procedures, and protocols.
Reviews and acknowledges procedures as required.
Assists in process development and improvement within the department including participating in quality assurance, continuing education programs, and department meetings.