Professional Aide

This is a temporary or on-call position. Temps can work two (2) nine (9) month terms with a week break in service in between and must terminate for three (3) months after the second term or switch to an on-call status. On-call staff are allowed to work up to 1,039 hours in any twelve-month period.

About the role

The Clinical Genomics Scientist will join an interdisciplinary research team supporting a study investigating the prenatal contributions to autism spectrum disorder (ASD). The team performs next-generation sequencing (NGS) data processing and analysis on research samples, combining state-of-the-art genetic testing with comprehensive interpretation of results for study participants.

Responsibilities

• Conduct variant interpretation and curation for NGS panel data generated by the study, including:
  • Reviewing participants' clinical histories and phenotypic information
  • Establishing genotype-phenotype correlations
  • Conducting pathogenicity assessment of variants using current ACMG/AMP variant classification guidelines and major human genetics databases (OMIM, ClinVar, HGMD, and gnomAD)
• Communicate variant curation findings and their significance to referring clinicians or other healthcare professionals involved in participant care
• 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

• Master's degree 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, and 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