Principal Clinical Genomic Scientist- WGS Review

About the role

This fully remote position plays a central role in our groundbreaking whole genome sequencing operation. You will review clinical documentation, perform case analysis, select candidate variants, and collaborate with other clinical reporting teams. The role offers daily team huddles, clear objectives, and flexible scheduling—all from the comfort of your home office.

Why join us

• Work at the forefront of genomic medicine with a team of world-class scientists.
• Contribute to innovations that shape the future of personalized healthcare.
• Enjoy a collaborative environment that values expertise, growth, and impact.

Responsibilities

• 80–100%: Review test requisition forms and clinical notes; perform case analysis using the Emedgene platform; identify and select variants relevant to the proband’s phenotype; request confirmatory testing when necessary.
• Communicate findings at cross-team huddles.
• Up to 20%: As needed, opportunities for cross-training in WGS variant curations or clinical indication (HPO) may become available.

Qualifications

For all ranks:

• Degree: Masters in Genetic Counseling, MD, or PhD in clinical medicine, genetics, molecular biology, or equivalent.
• Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines.

Rank-specific experience (preferred):

• Clinical Genomic Scientist – WGS review I: 1 year of whole exome or whole genome case review.
• Clinical Genomic Scientist – WGS review II: 2 years of whole exome or whole genome case review.
• Clinical Genomic Scientist – WGS review III: 5 years of whole exome or whole genome case review.
• Clinical Genomic Scientist – WGS review – Senior: 7 years of whole exome or whole genome case review; demonstrated expertise in gene-disease correlation, case analysis, and variant selection.
• Clinical Genomic Scientist – WGS review – Principal: 10 years of whole exome or whole genome case review; demonstrated expertise in gene-disease correlation, case analysis, variant selection, and a track record of leading projects, training coworkers, and improving workflow processes.

Skills & Competencies

• Expertise in clinical medicine, genetics, genomics, and molecular biology.
• Knowledge of genomic variation and its correlation with human disease.
• Proficiency with ACMG variant curation guidelines.
• Experience communicating genetic details effectively.
• Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).
• Competencies: Quality Assurance, Analytical and Problem-Solving Skills, Technical Skills, Interpersonal Skills, Oral and Written Communication, Teamwork, Organizational Support, Safety and Security, Dependability, Innovation, Adaptability.

Work Environment

• Fully remote, home-office setting.
• Frequent sitting, screen, keyboard, and mouse use.
• Punctual attendance at virtual meetings.
• Occasional weekend rotation (e.g., once a month).