Clinical Genomic Scientist/ Lead Clinical Genomic Scientist, (Multiple positions)
New York, NY
I am partnered with an independent, non-profit organization that leverages the collaborative resources of leading academic medical centers, research universities, and commercial organizations. Their mission is to transform medical research and clinical care in New York and beyond through the creation of one of the largest genomics facilities in North America, integrating sequencing, bioinformatics, and data management, as well as performing cutting-edge genomics research.
We are looking for a highly motivated, detail-oriented individual to join our rapidly expanding CLIA certified Molecular Diagnostic Laboratory. Clinical Genomic Scientist(s) will report to the Laboratory Director and will be responsible for clinical analysis and interpretation of Whole Genome Sequencing (WGS) data. Reported to the Laboratory Director. Responsibilities include but are not limited to variant curation and interpretation following the ACMG guidelines, genotype-phenotype correlation, variant database maintenance and mining, assistance with drafting clinical reports, and
assisting Lab Directors with other day-to-day tasks. Clinical Genomic Scientists will work as a part of a team of highly experienced molecular diagnostic laboratory and informatics staff to produce clinical reports from WGS data. These positions are anticipated to be remote through June 2021.Candidates without an ABMGG Fellowship will only be considered for the Clinical Genomics Scientist position, and ABMGG Board Eligible candidates will be considered for the Lead Clinical Genomic Scientist position.
Key Responsibilities include, but are not limited to:
- Review Sanger sequencing and qPCR results and prepare variant level summary for clinical reporting;
- Identify, annotate and investigate the clinical significance of variants found in NGS-based clinical tests;
- Prepare variant assessment summary, classify variants as per ACMG criteria, maintain accurate and detailed records of variant classification;
- Using information from clinical notes, create a list of genes for inclusion or exclusion list for variant filtering and prioritizing;
- Assist with literature review and interpretation of sequencing data;
- Implement tools to track and report variants and create a knowledge base and the internal variant database for various diseases;
- Prepare presentations for clinical case reviews and present evidence for multi-disciplinary review meetings;
- Participate in new assay validations and translational clinical activities as assigned.
- Masters or PhD in molecular biology, human genetics, biochemistry, or a related field is required for Clinical Genomic Scientist position. PhD/MD with ABMGG Fellowship in Molecular Genetics or Laboratory Genetics and Genomics (LGG) is required for the Lead Clinical Genomic Scientist position.
- Experience in searching and extracting information from commonly used genomics databases such as ClinVar, gnomAD, HPO, NCBI etc;
- Strong knowledge of Molecular Biology and Mendelian genetic diseases;
- Excellent general laboratory and organizational skills, including the ability to work independently with minimal supervision and to train others in laboratory methods;
- Thrives in a fast-paced, rapidly changing, start-up like environment;
- Self-motivated and capable of analyzing and solving complex problems through innovative thought and experience.
- Prior experience working in a high volume molecular diagnostic laboratory;
- Experience with variant classification as per ACMG guidelines;
- Previous exposure to NGS based molecular diagnostic testing such as WGS, WES, and gene panels.
- Knowledge of phenotype ontologies;
- Bioinformatics experience and background are welcomed
- Prior experience with variant curation and interpretation from the clinical genome or exome data is highly desirable