Variant Interpreter Job at CBL Path, Inc.

CBL Path, Inc. Rye Brook, NY 10573

Job Functions, Duties, Responsibilities and Position Qualifications:
Position Summary:
Our ThyroSeq Laboratory located in Rye Brook, NY, has an opening for a Molecular Interpreter. (Variant Analyst/Molecular Interpreter/Genomic Interpreter)
The Variant Interpreter will function within a team of Interpreters/Curators in the interpretation of the ThyroSeq results obtained from clinical DNA and RNA specimens retrieved from thyroid FNAs, FFPEs, Cytospins, and cytology smears that were subjected to next generation sequencing (NGS) assay, to better manage and prognosticate patients with a thyroid nodule. This Master’s and/or PhD level scientist will use manual and automated methods in a team environment and follow established policies and procedures to make detailed genomics observations, interpretations and analyses of the NGS data, while maintaining a high level of tumor biology expertise through familiarity with scientific literature as he/she generates NGS reports. The scientist will cultivate an excellent working relationship with the Laboratory Director (LD), other interpreters/curators, and various teams in the molecular laboratory, genetic counseling, LIMS/LIS Integration, software engineering, data analysis, and Bioinformatics groups as they aid the test development and validation of the clinical pipeline of molecular assays and/or research conducted in the lab. The scientist will also participate in writing SOPs for variant annotation and interpretation and QC/QA processes. He/she will also be involved in the generation of the variant knowledgebase and training of the incoming staff, in accordance with the SOPs, and based on CAP/CLIA/NYSDOH regulatory policies and procedures. Although, initially, the laboratory will focus on the molecular assessment of the thyroid nodules for diagnostic, prognostic, and management purposes, other oncology testing will be performed in the newly built, state of the art, SHUSA ThyroSeq Laboratory, located at 760 Westchester, Rye Brook, NY, 10573.
This full -time position requires the ability to use a computer, keyboard, and communication over phone and video conferencing. Duties may require working outside the normal working hours, at times over the weekends and evening, especially for STAT cases or when there is a deadline to comply with in the Lab.
Job Responsibilities:
  • Clearly communicate in both written and spoken English with the key clinical staff regarding tumor-profiling results prior to producing clear, concise and correct technical documentation.
  • Efficiently review data (NGS, ABI, PCR, etc.) and approves results according to standard procedures.
  • Efficiently evaluates and provides assessment of pathogenicity for detected DNA/RNA variants, DNA Copy Number Variations (CNV), as well as evaluate expression analysis rendered using the proprietary algorithm.
  • Timely generates patient reports.
  • On as needed basis, assists in the development of procedures for classifying genetic variants per guidelines, including AMP/ACMG, curation of internal and external databases, as well as submission to ClinVar or for publication.
  • Assists in the training of new staff members and/or other duties as assigned.
  • Works with PHI on a regular basis; be compliant with HIPAA/PHI privacy rules, and complete compliance and security trainings within two weeks of hire.
  • Advises on design and implementation of quality control (QC) procedures for critical steps and processes.
  • Write standard operating procedures (SOP) and other lab-related documents when necessary.
  • Communicate and discuss molecular results with a multidisciplinary team including the LDs, bioinformaticians, software engineers and lab staff.
  • Learn and understand the science behind ongoing clinical tasks/research projects that he/she is involved.
  • Produce high quality, and reproducible results to the highest technical standards established by the laboratory
Job Qualifications:
  • An MD, PhD or a Master’s degree in medicine, molecular biology, tissue or cellular biology, genetics, or any oncology-related fields.
  • Minimum of 2 years of clinical curation experience in a CLIA environment, with oncology experience being preferred.
  • Solid understanding of genetic variant curation and/or interpretation of clinical relevance based on the AMP and ACMG guidelines of preferentially solid tumors over hematologic malignancies or germline conditions.
  • Familiarity with databases, tools, and resources commonly used in interpretation of genomic data.
  • Ability to troubleshoot technical and scientific issues either individually or in a team setting.
  • Ability to comprehend complex problems and apply knowledge in a solutions-oriented approach with attention to details and clinical nuances that could be critical in patient’s management and clinical outcomes.
  • Organized, and efficient to provide exceptionally accurate and high quality of work with ability to thrive in a fast-paced, and evolving laboratory environment, which would start with the ThyroSeq assay but plans to continue launching other molecular assays as appropriate with the Sonic Healthcare’s vision.
HI-TRUST RISK ASSESSMENT:
HIGH – This role will have elevated access to Protected Health Information (PHI). Employees will be trained on reasonable safeguards and are expected to act with sound judgement and integrity to ensure proper governance of sensitive and/or proprietary information. Employees are expected only to access PHI when it is required to fulfill job duties. Employees are expected to follow protocol and only make changes to hardware or software with proper authorization.
Scheduled Weekly Hours:
40
Work Shift:
Company:
CBL Path, Inc.
Sonic Healthcare USA is an equal opportunity employer that celebrates diversity and is committed to an inclusive workplace for all employees. We prohibit discrimination and harassment of any kind based on race, color, sex, religion, age, national origin, disability, genetics, veteran status, sexual orientation, gender identity or expression, or any other characteristic protected by federal, state, or local laws.



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