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Clinical Genomic Scientist

Philadelphia, PA, US, 19104

Job Type: 

Req ID: 24626

Shift: Days

Employment Status: AF - Active - Regular - Full Time 

Job Summary

The Clinical Genomic Scientist I position is an entry level position for a PhD-level biomedical scientist or for an experienced Genetic Counselor with an interest in diagnostics. The focus of the position is analysis of complex genomic data in a pediatric diagnostic setting. 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

Variant Interpretation: Interpret complex genomic data in a pediatric genetic diagnostic setting. This will include variant classification according to established criteria based on the published American College of Medical Genetics and Genomics (ACMG) guidelines, and will also involve clinical correlation of gene/variant with patient phenotype, scientific literature review, and/or report writing for both targeted and high-complexity genomic tests.

 

Data evaluation: Evaluates raw data as needed to determine quality and integrity, including but not limited to next generation sequencing (NGS), Sanger sequencing, and/or other laboratory methods. Evaluates bioinformatics pipeline outputs with an understanding of the underlying logic.

 

Quality Improvement and Quality Control: Supports refinement or update of existing analysis workflows/protocols in order to improve sensitivity, efficiency and quality of testing as needed. Supports quality control testing and quality management programs according to written protocols and policies as needed.

 

Test Development: Supports new test development efforts of the laboratory as needed.

 

Knowledge Holding: Assists others 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.

 

Education: The ideal candidate will contribute to our laboratory’s teaching mission by presenting technical education and case presentations to laboratory or medical staff, and by participating in education/mentorship of other laboratory staff and medical/genetic counseling trainees through direct interaction and/or presentations. This may include publishing/present scientific presentations/papers at a national level. Prepares and presents data at genetic rounds, meetings, and other forums.

 

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 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:TalentAcquisition@email.chop.edu

 

 

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