Job Description

The Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) is committed to improving the lives of families affected with rare neurodevelopmental disorders (NDDs). The RSZ TNC Genetic Counselor (GC) position will support both clinical and research efforts within the department. Specifically, the GC will provide counseling services to multi-disciplinary neurogenetics clinics including for patients with Tuberous Sclerosis Complex, Rett Syndrome, PTEN Hamartoma Tumor Syndrome, Phelan McDermid Syndrome, CDKL5 disorder and Kleefstra Syndrome. Research responsibilities include contributing to this mission of the Translational Genomic Medicine (TGM) Unit of the RSZ TNC. These research protocols aim to delineate new genetic conditions, understand the underpinning mechanisms, implement natural history protocols, and evaluate the suitability of various NDDs for eventual therapeutic interventions.

This position will be divided, with 50% dedicated to research and the other 50% focused on clinical responsibilities.

This Genetic Counselor I will be responsible for:

• Provides genetic counseling to individuals and families at risk for specific genetic neurodevelopmental disorders. Interprets family history, clinical and genetic findings to predict risk to patient. Obtains and reviews medical, developmental, and family history information as part of diagnostic team. Ascertains needs and agendas of patients/ families.
• Responds to inquiries related to diagnostic evaluations, hereditary risks, genetic testing, and pregnancy exposures. Participates in communication process and educating families. Provides documentation of evaluation for families, referring physicians, medical record.
• Oversees and coordinates daily operations of rare disease research studies. Acts as liaison between principal investigator, study staff, and project collaborators. Contributes to the development of research protocols and/or consent forms as required for review by the Institutional Review Board. Assists in preparing applications for research funding.
• Responds to inquiries related to research eligibility and procedures, diagnostic evaluations, hereditary risks, and genetic testing within scope of research project.
• Identifies, contacts, and screens potential participants/families for eligibility of participation in research studies. Obtains informed consent for study participation from eligible individuals/families.
• Collects and interprets family/medical history, clinical and genetic findings for research studies.
• Monitors and reviews data/sample collection, computer entry, and related activities to ensure compliance and consistency of application.
• Proficiently analyzes exome and genome data for identification of disease-causing variants, using existing analysis tools through in-house software for cohorts of individuals with rare neurodevelopmental disorders with minimal supervision.
• Performs clinical correlation of gene/variant with patient phenotype, scientific literature review, and variant classification using ACMG criteria.
• Collaborates in developing written documents and web-based materials for a variety of purposes including journal publications and conference presentations.

In order to qualify, you must have:

• Master's Degree in Genetic Counseling
• Current Massachusetts license as a Genetic Counselor
• Current Genetic Counselor certification from the American Board of Genetic Counseling or from the American Board of Medical Genetics and Genomics.
• Good analytical and problem-solving skills in order to collect information/samples from a wide variety of sources.
• The analytical skills to resolve highly complex problems requiring the application of clinical, scientific, or technical principles, theories, and concepts and in-depth, cross-functional experience-based knowledge.
• Knowledgeable in human genetics and next-generation DNA sequencing.
• Proficient with genomic data, tools and databases

About Boston Children's Hospital

Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care. As one of the largest pediatric medical centers in the United States, Children's offers a complete range of health care services for children from birth through 21 years of age.

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