Clinical Genetic Scientist

Philadelphia, PA, US, 19104

Job Type: 

LOC_ABRAMSON-Abramson Building Req ID: 74364

Shift: Days

Employment Status: Regular - Full Time 

Job Summary

The Division of Genomic Diagnostics at the Children’s Hospital of Philadelphia is seeking a highly motivated scientist to join our CAP/CLIA-certified Genomic Diagnostic Laboratory to support the test development efforts for the expanding cancer diagnostics program. The ideal candidate will have a solid background in molecular biology and genetics, strong analytic and problem solving skills, and in-depth understanding of advanced genomic technologies including Next Generation sequencing (NGS) used in diagnostics and precision medicine.

Responsibilities include but are not limited to:

•         Support the lab’s efforts to develop nucleic-acid based cancer genomic tests such as whole exome sequencing, transcriptome sequencing (RNA-Seq), whole genome sequencing, and liquid biopsy.

•         Design and conduct validation experiments, analyzes validation data, and write detailed and accurate standard operation protocols and high quality validation reports

•         Define quantitative metrics and thresholds for quality control and establish quality assurance program for the newly developed tests.

•         Train clinical staff and transition developed tests from the R&D phase to the clinical testing phase

•         Identify and troubleshoot technical and data analysis problems proactively and independently

•         Present results at group and external meetings and assist with preparing manuscripts as needed


Preferred Qualifications:

•           MS in Genetics, Molecular Biology or a related filed with a minimum of 3 years of experience; Ph.D. in Genetics, Molecular Biology or related field preferred.

•           Solid background and extensive experience in molecular biology, scientific thought process, strong problem solving and troubleshooting skills are required; previous experience with development of diagnostic genetic tests using NGS is preferred.

•           Must be self-motivated, result-oriented and goal-driven; must be able to clearly communicate scientific results in presentations and publications; must be able to work independently and collaboratively in a team environment.

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

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 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.

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 




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