Associate Clinical Variant Scientist

GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com.

Summary

Performs an independent role in the interpretation of variants for clinical DNA specimens for the purpose of diagnosing genetic diseases or screening for genetic diseases, using automated and manual methods in a team environment, and following established policies and procedures in a professional manner.

Shift: Must be flexible to work Tues - Sat or Sun - Thur, 2pm - 10pm ET. In addition to competitive salary, shift differentials are included for evenings and weekends.  

Job Duties and Responsibilities include the following. Other duties may be assigned.

• Efficiently evaluates and provides assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations (CNVs) following standard procedures and policies.
• Efficiently reviews data (Sanger sequencing, next generation sequencing, whole exome sequencing/whole genome sequencing, exon microarray, MLPA, qPCR, genome microarray, etc.) and approves results (case-level review) according to standard procedures and policies.
• Provides clear and error-free records of findings for report writers.
• Analyzes proficiency testing samples in the same manner as patient testing.
• Meets or exceeds annual continuing education requirements.

Auxiliary Assignments

• May support training by:
  • Presenting training materials to new employees, clinical staff, and rotating fellows
  • Updating training materials
  • Cross-checking and/or spot-checking variants and/or cases, which involves reliably catching errors and omissions without being unduly demanding and providing written feedback to trainees.
  • Providing feedback on trainee progress to the leaders of the training program
  • Acting as a resource for trainees and other colleagues
• May train in and perform clinical analysis of Xpanded, Slice and NBS exome tests, which involves evaluating variants using core principles, personal insight, professional tools, online and internal resources to produce a clear and concise report of findings.
• May provide meaningful suggestions for ongoing process improvement.
• May join and participate in internal and/or cross-functional teams that advance development projects or resolve case-related questions.
• May contribute to the creation and revision of relevant analysis SOPs.

Key Features and Attributes:

• Independence and Autonomy:
  • Complies with all policies and procedures.
  • Works within standardized procedures and practices to achieve objectives and meet deadlines.
  • Receives instruction, guidance, and direction from others; receives general instructions on newly introduced assignments.
  • Can explain technical issues to teammates.

• Quality, Quantity and Attention to Detail:
  
  
  • Typically produces high quality, error-free work.
  • Aims to increase quantity of analyzed cases while maintaining high vetting accuracy.
  • Meets or exceeds target workload with high accuracy and attention to detail.
    
    
• Collaboration and Teamwork:
  • Works well in a team setting.
  • Exchanges standard information with colleagues and immediate supervisor, project leaders and other professionals in the team/group.
  • Builds stable working relationships internally.
    
    
• Innovation and Problem Solving:
  
  
  • Solves routine problems using existing procedures and standard practices and professional judgement.
  • Applies knowledge and basic problem-solving techniques to define and resolve routine issues. Determines a course of action based on guidelines.
  • Participates in troubleshooting as needed, seeking support from supervisors, leads and managers as appropriate.
  • Uses personal insight and professional tools to evaluate patient results using the most current information available.

Qualifications To perform this job successfully, an individual must be able to perform each essential duty satisfactorily. The requirements listed below are representative of the knowledge, skill, and/or ability req