Clinical Genomic Scientist I, Children’s Hospital of Philadelphia

  • Bioinformatician
  • Scientist
  • Analyses of complex genomic data in diagnostic settings
Lab Website: division-genomic-diagnostics

Philadelphia, PA


The Clinical Genomic Scientist I position is an entry level position for a Genomic Scientist within the Division of Genomic Diagnostics at the Children’s Hospital of Philadelphia. Located on the CHOP Philadelphia campus, the Division houses a full-service genomics laboratory providing constitutional (germline) and somatic testing to a primarily pediatric patient population. The focus of the Scientist position is analysis of complex genomic data in diagnostic settings. The position allows for a wide variety of activities described within the job responsibilities. All activities occur with a moderate degree of supervision with some latitude for independent judgment, development of genetic testing workflows and processes, and presentation of results. This position is primarily remote with the potential for hybrid work as appropriate.
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Primary Responsibilities:
1. Accurately performs clinical correlation of gene/variant with patient phenotype, variant classification, scientific literature review, and/or report writing for genomic tests of the high complexity, including but not limited to chromosomal SNP array, exome/genome analysis, and NGS/exome-based panels.
2. Supports refinement or update of existing analysis workflows/protocols in order to improve sensitivity, efficiency and quality of testing.
3. Supports new test development efforts of the laboratory. Designs and conducts validation experiments, analyzes validation data and write high quality validation reports. Defines quantitative metrics and thresholds for quality control and establish quality assurance program for the newly developed tests.
4. Performs quality control testing and maintain quality management programs according to written protocols and policies. Reviews results for accuracy prior to acceptance. Recognizes and resolves abnormal, unusual or unexpected results; appropriately identify issues that require further action by the Supervisor, Manager or Director. Completes, evaluates and records all appropriate quality controls and quality assurance markers. Activates troubleshooting procedures when necessary.
5. Assists others (as appropriate based on skill level) by demonstrating expertise of advance experience and or training as necessary for laboratory operation. Evaluates new protocols, methods, techniques and/or equipment and makes recommendations to the Director, Manager or Supervisor. Prepares technical documentation drafts for publication and/or procedure manuals.
Additional responsibilities:
1. Prepares and presents technical education and case presentations to laboratory or medical staff. Participates in education/mentorship of other laboratory staff through direct interaction and presentations. May publish/present scientific presentations/papers at a national level. Prepares and presents data at Rounds, meetings, Con Eds.
2. Provides professional, courteous and calm customer service to both internal and external customers. Identifies appropriate resources and sources for re-directed inquiries. Responds appropriately and professionally to technical inquiries and requests for information: refers caller to Supervisor/Director/Manager when required. Acts as a reference source for laboratory procedures within their skill inventory as necessary. 3. Takes charge of any unusual or problem situations and reports issue to Supervisor, Manager or Director. Follows privacy rules (HIPAA) as defined by the hospital policy. Interacts with co-workers, hospital staff and all others (via various communication methods) in ways that foster professionalism, efficiency and optimal patient care.
4. Regularly reviews operational procedure manuals, individual competency assessment, quality assurance monitors for completeness, accuracy and regulatory compliance. Assists the Supervisor/Manager with recommendations for content, accuracy and improvements and makes changes as directed. Actively participates 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.
5. 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.

Qualifications/Preferred Skillsets:

Required Education: Master’s Degree in Genetics, Molecular Biology or related field.
Required Experience: At least three (3) years of relevant experience
Preferred Education, Experience & Cert/Lic
Preferred Education: Ph.D. in Genetics, Molecular Biology or related field.
Preferred Experience: Clinical laboratory or research experience in a disease area, genetic pathway or genomic testing technology
Additional Technical Requirements:
Advanced analytic skills, preferably demonstrated by peer-reviewed publications
High level accountability and attention to details
Excellent organization and communication skills
Ability to work independently and in a team environmen
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

Link to Application (if using external Application Portal):
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