Clinical Genomics Scientist I at Children's Hospital Of Philadelphia

Company Name
Children's Hospital Of Philadelphia
Job Title
Clinical Genomics Scientist I
Company Location
Philadelphia, PA
Contact Information
Required Education
Not Specified
Required Experience
Not Specified
Job Description

Req ID: 16083

Shift: Days

Employment Status: AF - Active - Regular - Full Time 

Job Summary

The Clinical Genomic Scientist I position is an entry level position for a Genomic Scientist with a MS or PhD degree. The focus of the 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.

Job Responsibilities

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.  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.
  3. 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.
  4. 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

Required Licenses, Certifications, Registrations

Required Education and Experience

  • MS in Genetics, Molecular Biology or related field, a minimum of 3 years of relevant experience required.

Preferred Education, Experience & Cert/Lic

  • Ph.D. in Genetics, Molecular Biology or related field preferred.

Additional Technical Requirements

  • Advanced analytic skills required, preferably demonstrated by peer-reviewed publications
  • High level accountability and attention to details required
  • Clinical laboratory or research experience in a disease area, genetic pathway or genomic testing technology preferred
  • Excellent organization and communication skills required
  • Ability to work independently and in a team environment required
  • Knowledge of the working mechanism of microarray, NGS, mass spectrometry, or other high-throughput technologies preferred.
  • Familiarity with resources of genomic data sets and analysis tools, such as UCSC Genome Browser, HGMD, ClinVar, Alamut and NCBI databases preferred.

All CHOP employees who work in a patient building or who provide patient care are required to receive an annual influenza vaccine unless they are granted a medical or religious exemption.

Children's Hospital of Philadelphia is committed to providing a safe and healthy environment for its patients, family members, visitors and employees. In an effort to achieve this goal, employment at Children's Hospital of Philadelphia, other than for positions with regularly scheduled hours in New Jersey, is contingent upon an attestation that the job applicant does not use tobacco products or nicotine in any form and a negative nicotine screen (the latter occurs after a job offer).

Children's Hospital of Philadelphia is an equal opportunity employer. We do not discriminate on the basis of race, color, gender, gender identity, sexual orientation, age, religion, national or ethnic origin, disability or protected veteran status.

VEVRAA Federal Contractor/Seeking priority referrals for protected veterans.  Please contact our hiring official with any referrals or questions.

CHOP Careers Contact 

Talent Acquisition

2716 South Street, 6th Floor

Philadelphia, PA 19146 

Phone: 866-820-9288 

Email:[Click Here to Email Your Resumé]

Job Requirements