Sponsor: Rubicon Genomics
Recording Date: 2/19/2014
Recording Time: 1 hour
1. Participates in launching new molecular genetic tests by reviewing relevant literature as well as all materials prepared by marketing, R&D, and the clinical laboratory; Reviews disease literature and develops gene lists for new test development of NGS panels; Writing, revising, updating drafts of canned text in conjunction with the directors to provide accurate result interpretation for next generation sequencing; Designing reports for physicians, patients, and families that can distill information from complex genetic tests into formats that are easy to understand
2. Interact with internal and external clinicians, patients and/or families to provide accurate technical and clinical information on pricing/coding, inheritance, testing options (including educating clients as to best testing option based on clinical criteria), report final results, or provide explanation of results, as applicable. For next generation sequencing, communicating additional information such as coverage data, Sanger confirmation, and disease related information on incidental findings to client, as required; Responsible for assessing that samples received by the laboratory are appropriate and that tests ordered for each sample are marked accurately; Preparing an informed consent document to be used in conjunctions with NGS based tests
3. Performing appropriate searches to find relevant literature and clinical information to support testing findings, and providing interpretation of primary data and test findings in light of provided clinical information
4. Remain current on the clinical application and relevance of the entire test menu, including revising/updating content of Department website, Online Service Directory, Genetic Testing Registry, or other media as required for the Molecular Genetics Lab; Perform data analysis, update laboratory databases, and write preliminary reports
5. Provide education on molecular genetic testing to internal and external clinical and technical staff (includes presentations at Genetics Rounds, Conferences, etc.); Performing a comprehensive literature review of the diseases diagnosed using NGS and develop educational materials for patient, families and physicians; Develop educational/marketing materials for external clients; May attend medical conferences relevant to tests offered by The Children's Hospital of Philadelphia Molecular Genetics Laboratory or genetic counseling for educational purposes
Certified by the American Board of Genetic Counseling
Masters degree in human genetics and genetic counseling
Minimum 3 years experience as an independent genetic counselor
Recognized as a point-of-contact for a specialized patient population
Sought out to provide outreach and education
Published on posters/ abstracts/ publications
Present cases at rounds, or other conferences
Demonstrated ability in counseling, skills, techniques and other related areas.
Must have a high degree of flexibility of skills and hours.
Prior experience with clinical data or research data is 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.
The 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 The 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).
If interested please apply at:
Please contact the CHOP Hotline at 866-820-9288 with any questions.
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