Variant Curation Scientist
The Review Analyst performs an independent role in the interpretation of results for clinical DNA specimens for the purpose of diagnosing genetic disease, using manual and automated methods in a team environment, and following established policies and procedures, in a professional manner.
o Tues-Sat or Sun-Thurs. In addition to the compensation, included is a pay differential.
- Learns and consistently follows the approved standard operating procedures for performing data analysis and case management, communicating with technical clinical staff, and record-keeping
- Always is able to document that proficiency testing is performed in the same manner as patient testing.
- Meets or exceeds target workload with high accuracy and attention to detail.
- Specific tasks for this job in this section may include the following:
- Case Analysis – Efficiently reviews data (ABI, NG, Exome, Exon Array, MLPA, qPCR, Genome Array, etc.) and approves results according to standard procedures. Reliably catches errors and omissions without being unduly demanding. Provides clear and error-free record of findings for report writers. Interacts with Analysts and GCs effectively. Contributes to ongoing process improvement.
- Variant evaluation – Efficiently evaluates and provides assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations (CNV). Uses personal insight and professional tools to evaluate patient results using the most current information available. Makes good use of core principles and online/internal resources. Interacts with gene experts effectively. Provides clear, concise findings for report writers. Contributes to ongoing process improvement.
- Development – Assists R&D, TT&V and Clinical departments in new test development as needed.
- Other related duties as assigned.
Education and/or Experience
The employees must have a PhD in medical technology, chemistry, biology, or related life science, meet CLIA and New York State personnel standards criteria plus 2 years relevant work experience
Budgeted Pay Range: $77,000 - $87,000
Science - Minded, Patient - Focused.
At GeneDx, we create, follow, and are informed by cutting-edge science. With over 20 years of expertise in diagnosing rare disorders and diseases, and pioneering work in the identification of new disease-causing genes, our commitment to genetic disease detection, discovery, and diagnosis is based on sound science and is focused on enhancing patient care.
Experts in what matters most.
With hundreds of genetic counselors, MD/PhD scientists, and clinical and molecular genomics specialists on staff, we are the industry’s genetic testing experts and proud of it. We share the same goal as healthcare providers, patients, and families: to provide clear, accurate, and meaningful answers we all can trust.
SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES.
From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way:
- High-quality testing: Our laboratory is CLIA certified and CAP accredited and most of our tests are also New York State approved.
- Advanced detection: By interrogating genes for complex variants, we can identify the underlying causes of conditions that may otherwise be missed.
- Thorough analysis: We classify variants according to our custom adaptation of the most recent guidelines. We then leverage our rich internal database for additional interpretation evidence.
- Customized care: Our experts review all test results and write reports in a clear, concise, and personalized way. We also include information for research studies in specific clinical situations.
- Impactful discovery: Our researchers continue working to find answers even after testing is complete. Through both internal research efforts and global collaborations, we have identified and published hundreds of new disease-gene relationships and developed novel tools for genomic data analysis. These efforts ultimately deliver more diagnostic findings to individuals.
Learn more About Us here.
Essential on-site and customer facing employees may be required to provide proof of COVID-19 vaccinations. Medical or religious exemptions considered.
- Paid Time Off (PTO)
- Health, Dental, Vision and Life insurance
- 401k Retirement Savings Plan
- Employee Discounts
- Voluntary benefits
GeneDx is an Equal Opportunity Employer.