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Genetic Counselor/ Laboratory Analyst

Company: The Children's Hospital of Philadelphia
Location: Philadelphia
Posted on: November 9, 2019

Job Description:

ABRAMSON - Abramson Building Req ID: 28885

Shift: Days

Employment Status: AF - Active - Regular - Full Time JOB SUMMARY

The GeneticCounselor-Laboratory 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.

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.





JOB RESPONSIBILITIES

Primary Responsibilities:

* 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.

* 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 write high quality validation reports. Defines quantitative metrics and thresholds for quality control and establish quality assurance program for the newly developed tests.

* 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.

* 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:

* 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.

* 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.

* 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.

* 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.

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.

Keywords: The Children's Hospital of Philadelphia, Lower Merion , Genetic Counselor/ Laboratory Analyst, Professions , Philadelphia, Pennsylvania

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