Job Posting Description

Position Summary
The Neurology Department at Boston Children's Hospital has an opening for a newly created, full-time, pediatric genetic counseling position. Join over 15 licensed genetic counselors who collaborate across the Neurology Department and The Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center (TNC) to provide specialty care and participate in translational research.

This is a mixed clinical research and clinical position focused on providing genetic counseling expertise for translational projects and clinics centered on genetic neurodevelopmental disorders (NDDs). The primary specialty areas of the genetic counselor in this role will include specific genetic neurodevelopmental disorders (such as Kleefstra syndrome), cerebral palsy (CP) and intellectual disability (ID). The genetic counselor will participate in multidisciplinary clinics, natural history and phenotypic expansion studies, and innovative research projects exploring the clinical and personal utility of genetic testing/diagnosis.

This role will include collaboration and interaction with neuroscientists, neurologists, geneticists, genetic counselors, psychologists, patient advocacy groups, bioinformatics experts, and other internal and external collaborators. We are searching for a candidate with a strong background in variant interpretation, experience with/interest in working with individuals with NDDs, and expertise in research project management. This is an opportunity to work at the interface of genomic medicine, informatics, human disease genetics, neuroscience, and translational medicine, to shape future clinical practice guidelines and to have an important impact on the experiences of patients and families.

Key Responsibilities

• Provides genetic counseling for specific hereditary disorders. Interprets family history, clinical and genetic findings. Obtains and reviews medical, developmental and family history as part of diagnostic team.
• Pre and post-test exome/genome genetic counseling for patients with cerebral palsy and related NDDs.
• Screens referrals. Responds to inquiries related to diagnostic evaluations, hereditary risks, and genetic testing.
• Coordinates one or more clinics in assigned Department including Kleefstra syndrome clinic.
• Oversees Kleefstra syndrome clinical and research program. Oversees phenotypic expansion projects and analysis of datasets.
• Assists with genomic and variant analysis for NDD cohorts enrolled in research protocols.
• Contributes to the development of research protocols for review by the IRB.
• Develops and maintains systems/procedures for data collection to enhance efficiency and effectiveness of study operations and data management.
• Identifies, contacts and screens potential research participants for eligibility. Obtains informed consent for study participation. Responds to inquiries related to research eligibility and procedures, diagnostic evaluations, hereditary risks and genetic testing within scope of research project.
• Assists with qualitative research on perceived utility after genetic testing for NDDs.
• Assists in interviewing, orientation and training of other genetic counselors and study staff
• Develops and participates in genetics education programs for physicians, other health professionals and lay populations. Trains, supervises, and evaluates graduate level counseling students.
• Collaborates in developing written documents and web-based materials for a variety of purposes including journal publications and conference presentations.

Minimum Qualifications
Education:

• Master's Degree in Genetic Counseling

Experience:

• At least two years of directly related experience.
• Proficient with genomic data, tools and databases.

Licensure/ Certifications:

• 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