Genetic Counselor/ Laboratory Analyst
Company: The Children's Hospital of Philadelphia
Posted on: November 9, 2019
ABRAMSON - Abramson Building Req ID: 28885
Employment Status: AF - Active - Regular - Full Time JOB
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
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.
* 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.
* 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
* 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
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
* 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
* 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
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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