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.
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.
Education Requirement:- Master's Degree in molecular genetics, human genetics, or molecular pathology, required.
- PhD in biological sciences, preferred.
Licensure Requirement:(not specified)
Certifications:(not specified)
Skills: - 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.
Experience:- Two years of significant and relevant experience including variant classification (including Genetic Counselors with relevant experience), required.
- Two years of experience in genetics, preferred.
- Extensive experience in data mining and organization.
Physical Requirements:OCCASIONALLY: Bend/twist, Climb stairs/ladder, Flexing/extending of neck, Fume /Gases /Vapors, Hand use: grasping, gripping, turning, Lifting / Carrying: 11-20 lbs, Lifting / Carrying: 21-40 lbs, Loud Noises, Reaching above shoulder, Repetitive hand/arm use, Squat/kneel
FREQUENTLY: Standing, Walking
CONTINUOUSLY: Audible speech, Color vision, Computer skills, Decision Making, Depth perception, Hearing acuity, Interpreting Data, Lifting / Carrying: 0-10 lbs, Peripheral vision, Problem solving, Seeing – Far/near, Sitting
Additional Physical Requirements performed but not listed above: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.
"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 individuals 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 their supervision. EOE M/F/Disability/Vet"
