Associate Clinical Variant Scientist
Associate Clinical Variant Scientist
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1 Vacancy
Job Description
Overview
Versiti is a fusion of donors scientific curiosity and precision medicine that recognize the gifts of blood and life are precious. We are home to the worldrenowned Blood Research Institute we enable life saving gifts from our donors and provide the science behind the medicine through our diagnostic laboratories. Versiti brings together outstanding minds with unparalleled experience in transfusion medicine transplantation stem cells and cellular therapies oncology and genomics diagnostic lab services and medical and scientific expertise. This combination of skill and knowledge results in improved patient outcomes higher quality services and reduced cost of care for hospitals blood centers hospital systems research and educational institutions and other health care providers. At Versiti we are passionate about improving the lives of patients and helping our healthcare partners thrive.
Position Summary
Under the direction of the Director of Hematology Genetics and in partnership with the hematology genetics team the Associate Clinical Variant Scientist performs analysis of sequence variants and genetic alterations and evaluates primary scientific and medical literature and databases to support variant classification. Performs technical review of testing data drafting a thorough and accurate interpretation of results.
Total Rewards Package
Benefits
Versiti provides a comprehensive benefits package based on your job classification. Fulltime regular employes are eligible for Medical Dental and Vision Plans Paid Time Off (PTO) and Holidays Short and Longterm disability life insurance 7% match dollar for dollar 401(k) voluntary programs discount programs others.
Responsibilities
- Variant Analysis and Interpretation *Maintain sample integrity and ensure proper identification of all specimens *Reviews molecular data from Sanger NGS and other technologies. *Uses variant visualization and analysis software. *Assesses variant significance and performs rulebased variant interpretation with supporting documentation *Classifies variants according to existing clinical guidelines drafting clear concise summaries and reports. *Collaborates with genetic counselor and physician team to integrate clinical history and ancillary findings into variant interpretations *Maintain proper documentation of all analysis/investigation performed *Review daily work for accuracy. Recognize and investigate the reason for potential discrepancies and unexpected results resolving or escalating as appropriate. *Maintains knowledge of human medical genetics principles and of relevant American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines related to sequencing and variant analysis
- Hematology Genetics Laboratory Support *Support sample/testing evaluation *Support customer inquiries via phone email and lab information system (LIS)
- May participate in validations
- May train staff on job specific tasks
- Participates in continuing education and maintains competency
- Performs other duties as required or assigned which are reasonably within the scope of the duties in this job classification
- Understands and performs in accordance with all applicable regulatory and compliance requirements
- Complies with all standard operating policies and procedures
Qualifications
Education
- Bachelors Degree or advanced degree from an accredited college or university in biology chemistry molecular biology immunology clinical laboratory science medical technology or related field. required
- Bachelors Degree Alternative: must meet minimum requirement for testing personnel CLIA 493.1489 in lieu of required degree
Experience
- 13 years Experience or coursework with human genetic diseases sequencing data molecular assays and/or variant interpretation preferred
- 13 years Experience or coursework with bioinformatic analysis and laboratory information systems. preferred
- 13 years Experience performing laboratory research and/or contributing to scientific literature or presentation. preferred
Knowledge Skills and Abilities
- Ability to read and interpret documents such as Standard Operating Procedures safety rules operating and maintenance instructions and other department manuals. required
- Must have relevant mathematical skills as it applies to determination of genomic and gene coordinates. required
- Strong ability to critically analyze interpret and summarize relevant scientific literature and clinical genetic information. required
- Ability to organize work to provide efficient and productive workflow. required
- Ability to learn and work independently under minimum supervision as well as to collaborate effectively as a productive team member. required
- Must have strong attention to detail. required
- Outstanding written oral and interpersonal communication skills in English. required
- Working knowledge of the laboratory methods relevant for genetic testing principles of quality control quality assurance and documentation and current standards for genetic test reporting and classification. preferred
Tools and Technology
- Personal Computer (desk top lap top tablet) required
- General office equipment (computer printer fax copy machine) required
- Microsoft Suite (Word Excel PowerPoint) required
- Software systems (including but not limited to Customer Relationship Management Software Laboratory Information Systems Learning Management System). preferred
- Proficiency in computer applications necessary for position including Microsoft Office genetic databases variant annotation software variant analysis programs. preferred
Required Experience:
IC
Employment Type
Full-Time
