The Division of Genomic Diagnostics (DGD) within the Children's Hospital of Philadelphia (CHOP) is seeking a Clinical Genomic Scientist I to join our team. Located on the CHOP Philadelphia campus, the DGD is a full-service genomics laboratory providing constitutional (germline) and somatic testing to a primarily pediatric patient population. The successful candidate will work with our team of genomic scientists, as well as laboratory directors, genetic counselors, and bench technologists, to support genomic testing in the DGD.
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.
Primary Job Responsibilities:
Accurately performs 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.
Supports refinement or update of existing analysis workflows/protocols in order to improve sensitivity, efficiency and quality of testing.
Supports new test development efforts of the laboratory. Designs and conducts validation experiments, analyzes validation data and writes high quality validation reports. Defines quantitative metrics and thresholds for quality control and establishes quality assurance program for newly developed tests.
Performs quality control testing and maintains 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 identifies 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.
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.
Children's Hospital of Philadelphia (CHOP) is the nation's first hospital devoted exclusively to the care of children. Since our start in 1855, CHOP has been the birthplace for countless breakthroughs and dramatic firsts in pediatric medicine. Built on a foundation of delivering safe, high-quality, family-centered care, the Hospital has fostered medical discoveries and innovations that have improved pediatric healthcare and saved countless children’s lives. Today, families facing complex conditions come to CHOP from all over the world, and our compassionate care and innovation has repeatedly earned us a spot on the U.S. News & World Report's Honor Roll of the nation's best children's hospitals.