Clinical Genomic Scientist (Carrier Screening)

TL;DR

Clinical Genomic Scientist (Carrier Screening): Analyzing clinical genetics data, curating variants, and summarizing findings for clinical reports with an accent on ACMG guidelines and gene-disease correlation. Focus on supporting laboratory directors with test validation, variant nomenclature, and ensuring high-quality clinical data analysis.

Location: Must be based in the United States

Company

A clinical genetics laboratory specializing in genomic testing and diagnostic services.

What you will do

• Curate variants, genes, and gene-disease correlations following ACMG guidelines.
• Analyze clinical genomics data and select variants for confirmation.
• Apply HGVS guidelines for variant nomenclature.
• Draft clinical reports and assist in test validation processes.
• Present findings and monitor test turnaround times.
• Participate in daily team huddles and occasional weekend rotations.

Requirements

• Must be based in the United States
• PhD or MD in clinical medicine, genetics, or molecular biology (Master’s degree with relevant experience also considered).
• Familiarity with ACMG variant curation guidelines.
• Expertise in clinical medicine, genomics, and human disease correlation.
• Proficiency in Microsoft Office suite.
• Strong medical reading and writing skills.

Nice to have

• MB(ASCP) certification.
• Experience in bioinformatics analysis and variant effect prediction algorithms.
• Knowledge of scripting languages.

Culture & Benefits

• Fully remote work environment with a home office setup.
• Flexible scheduling and clear objective-based performance.
• Opportunity to work with cutting-edge genomic technologies.
• Collaborative team environment with regular virtual meetings.