Clinical Genomics Scientist- Report Writing

We are seeking a Clinical Genomics Scientist to analyze clinical genetics data, curate variants and genes, and summarize findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms.

Responsibilities

• Curation (50%): curation of variants, genes, and gene-disease correlation following ACMG guidelines
• Analysis (30%): analyzing clinical genomics data, selecting variants for curation/confirmation, variant nomenclature following HGVS guidelines
• Other (20%): may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring test turnaround time

Requirements

• Board-certified Genetic Counselor preferred, or PhD/MD in clinical medicine, genetics, molecular biology, or a related field
• For Genetic Counselors: minimum three years of patient-facing genetic counseling, including test ordering, clinical documentation, development of patient resources, interpretation of reports, and clear communication of complex results
• Demonstrated dedication to improving patient care through clinical report writing and variant curation
• Commitment to expanding access to genetic services
• Experience with variant interpretation/curation desired but not required
• 2-4 years of experience in clinical genomics or related fields (including postdoctoral appointments)
• Thorough understanding of the American College of Medical Genetics (ACMG) variant curation guidelines
• Knowledge of genomic variation and its correlation with human disease
• Expertise in concepts of clinical medicine, genetics, genomics, or molecular biology
• Experience in data quality assessment and communicating genetic details effectively
• Excellence in reading/writing medical language
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook)
• Desired: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages

Skills

• Quality Assurance
• Analytical
• Problem Solving
• Technical Skills
• Interpersonal Skills
• Oral and Written Communication
• Teamwork
• Organizational Support
• Safety and Security
• Dependability
• Innovation
• Adaptability

Schedule

• Primarily remote (home office)
• Frequently required to sit, using screen, keyboard, and mouse
• Punctuality attending virtual meetings
• Occasional weekend rotation may be needed (for example, once a month)