Position Summary
The Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center (TNC) is comprised of translational investigators and clinical experts focused on neurogenetic and neurodevelopmental disorders. The TNC has been selected to serve as a clinical IMPACT site within the Aligning Research to Impact Autism (ARIA) initiative. This multi-site longitudinal natural history study aims to map the trajectory of autism and related neurodevelopmental disorders (NDDs). This initiative aims to deeply phenotype these populations and identify future clinical trial outcome measures. The TNC Genetic Counselor (GC) will work closely with TNC research staff and physician researchers to execute this study.

Specifically, the TNC GC will work closely with a Geneticist and Program Manager to bridge the clinical and research arms of the ARIA initiative. They will facilitate participant recruitment and enrollment. They will serve as a participant resource for the research genetic testing process, which includes but is not limited to, genetic test consents, sample collection, sample tracking, return of results, and providing relevant resources to families. They will also assist with data collection activities and data entry, as needed.

This position will be 100% dedicated to research.

Key Responsibilities

• Provides genetic counseling to individuals and families at risk for specific genetic neurodevelopmental disorders. Interprets family history, clinical findings, 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, and the 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 findings, and genetic findings for research studies.
• Monitors and reviews data/sample collection, computer entry, and related activities to ensure compliance and consistency of application.
• Must be familiar with genome data analysis protocols for the identification of disease-causing variants.
• 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.

Minimum Qualifications
Education:

• Master’s Degree in Genetic Counseling

Experience:

• Good analytical and problem-solving skills in order to collect information/samples from a wide variety of sources.
• Knowledgeable in human genetics and next-generation DNA sequencing, particularly whole genome sequencing.
• Proficient with genomic data, tools and databases.

Licensure/ Certifications:

• MA Genetic Counselor License
• Genetic Counselor certification from the American Board of Genetic Counseling or from the American Board of Medical Genetics and Genomics