Professional Aide

About the Role

This is a temporary or on-call position providing professional support in clinical genomics for an interdisciplinary research team investigating prenatal contributions to autism spectrum disorder (ASD). The team performs next-generation sequencing (NGS) data processing and analysis on research samples, combining genetic testing with comprehensive interpretation of results.

Responsibilities

• Conduct variant interpretation and curation for NGS panel data generated by the study.
• Review participants' clinical histories and phenotypic information to establish genotype-phenotype correlations.
• Perform pathogenicity assessment of variants using current ACMG/AMP variant classification guidelines and major human genetics databases (OMIM, ClinVar, HGMD, gnomAD).
• Communicate variant curation findings and their significance to referring clinicians or other healthcare professionals.
• Contribute to the improvement of curation pipelines and internal databases.
• Assist with protocol and test development.
• Maintain accurate and detailed records of all curation work.
• Participate in laboratory meetings, case discussions, and presentations of findings.

Qualifications

• MS in Genetic Counseling from an ACGC-accredited program.
• Minimum of 5 years of clinical experience in pediatric genetics and/or neurogenetics.
• Experience in clinical variant curation and interpretation, including application of ACMG/AMP variant classification guidelines.
• Experience communicating complex genetic findings to physicians, scientists, and other healthcare professionals.
• Thorough understanding of medical terminology and major human genetics databases (OMIM, ClinVar, HGMD, gnomAD).
• Familiarity with next-generation sequencing technologies (exome sequencing, genome sequencing, and targeted NGS panels).
• Excellent written and verbal communication skills, with strong attention to detail.
• ABGC board certification as a Genetic Counselor.
• Ability to work independently and collaboratively within a multidisciplinary research team.
• Prior experience or interest in autism spectrum disorder and/or neurodevelopmental genetics research is a plus.

Schedule

• Temporary: Can work two (2) nine (9)-month terms with a week break in service in between and a three (3)-month termination period at the end of the second term.
• On-Call: Allowed to work up to 1,039 hours in any twelve (12)-month period.

Work hours are on-call.