Clinical Genomic Scientist I - R&D Innovation

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About the role

The Genomic Diagnostic Laboratory (GDL) of the Children’s Hospital of Philadelphia is seeking a highly motivated Clinical Genomic Scientist (CGS) with an interest in clinical genomics and laboratory diagnostics to join our team. This is an exciting opportunity to work collaboratively within the Research and Development (R&D) Innovation team and together with our laboratory directors, supervisors, analysts, genetic counselors, and wet bench team to develop, validate, and launch cutting-edge technologies that have a direct impact on establishing the diagnosis, prognosis, treatment, and management plan for our patients. This position will also include performing clinical test development and clinical research. The ability to communicate in a highly matrixed environment will be key to the candidate’s success. Seasoned professionals are welcome to apply and will be considered for the career ladder position commensurate with their experience. This position requires several days per week onsite at our Philadelphia campus.

The Clinical Genomic Scientist I is primarily focused on developing and validating wet bench protocols and data analysis workflows to support clinical test development within genomics. The scope of the work will include the development, improvement, QC, troubleshooting, and optimization of wet bench workflows and processes, establishing data analysis workflows and troubleshooting, as well as presentation of results for multi-omics-based tests. The position allows for a wide variety of activities with a moderate degree of supervision and moderate latitude for independent judgment.

Responsibilities

• Accurately perform clinical correlation of gene/variant with patient phenotype, variant classification, scientific literature review, and/or report writing for genomic tests of high complexity, including but not limited to chromosomal SNP array, exome/genome analysis, and NGS/exome-based panels.
• Support refinement or update of existing analysis workflows/protocols to improve sensitivity, efficiency, and quality of testing.
• Support new test development efforts of the laboratory. Design and conduct validation experiments, analyze validation data, and write high-quality validation reports. Define quantitative metrics and thresholds for quality control and establish quality assurance programs for newly developed tests.
• Perform quality control testing and maintain quality management programs according to written protocols and policies. Review results for accuracy prior to acceptance. Recognize and resolve abnormal, unusual, or unexpected results; appropriately identify issues that require further action by the Supervisor, Manager, or Director.
• Complete, evaluate, and record all appropriate quality controls and quality assurance markers. Activate troubleshooting procedures when necessary.
• Assist others (as appropriate based on skill level) by demonstrating expertise of advanced experience and/or training as necessary for laboratory operation. Evaluate new protocols, methods, techniques, and/or equipment and make recommendations to the Director, Manager, or Supervisor. Prepare technical documentation drafts for publication and/or procedure manuals.
• Prepare and present technical education and case presentations to laboratory or medical staff. Participate in education/mentorship of other laboratory staff through direct interaction and presentations. May publish/present scientific presentations/papers at a national level. Prepare and present data at Rounds, meetings, and continuing education sessions.
• Provide professional, courteous, and calm customer service to both internal and external customers. Identify appropriate resources and sources for re-directed inquiries. Respond appropriately and professionally to technical inquiries and requests for information; refer callers to Supervisor/Director/Manager when required. Act as a reference source for laboratory procedures within their skill inventory as necessary.
• Take charge of any unusual or problem situations and report issues to Supervisor, Manager, or Director. Follow privacy rules (HIPAA) as defined by hospital policy. Interact with co-workers, hospital staff, and others in ways that foster professionalism, efficiency, and optimal patient care.
• Regularly review operational procedure manuals, individual competency assessments, and quality assurance monitors for completeness, accuracy, and regulatory compliance. Assist the Supervisor/Manager with recommendations for content, accuracy, and improvements and make changes as directed.
• Actively participate in laboratory section continuing education/quality assurance meetings by preparing and presenting presentations related to their work. Assist the Supervisor/Manager with the preparation of competency assessment tools.
• May also be involved in research activities, including abstract/manuscript submission and presentations at local or national professional conferences, related to a specialized patient population, disease area, genetic pathway, or testing technology.

Requirements

• Master's Degree in Genetics, Molecular Biology, or related field (Required)
• Doctorate in Genetics, Molecular Biology, or related field (Preferred)
• At least three (3) years of relevant experience (Required)
• Clinical laboratory or research experience in a disease area, genetic pathway, or genomic testing technology (Preferred)

Skills

• Experience with Next Generation Sequencing (Illumina)
• Experience with Long Read Sequencing (PacBio)
• Experience with molecular biology techniques such as DNA/RNA extraction, PCR, cell culture, qPCR, ddPCR, NGS library preparation, and related QC/troubleshooting
• Experience in assay development and validation
• Background in genomics or related field
• Strong presentation skills
• Advanced analytic skills, preferably demonstrated by peer-reviewed publications
• High level of accountability and attention to detail
• Excellent organization and communication skills
• Ability to work independently and in a team environment
• Knowledge of the working mechanism of microarray, NGS, mass spectrometry, or other high-throughput technologies
• Familiarity with resources of genomic data sets and analysis tools, such as UCSC Genome Browser, HGMD, ClinVar, Alamut, and NCBI databases

Pay

Salary range: $83,700.00 - $106,700.00 annually. Salary ranges are shown for full-time jobs. If you're working part-time, your pay will be adjusted accordingly. At CHOP, we are committed to fair and transparent pay practices. Factors such as skills and experience could result in an offer above the salary range noted in this job posting.