Associate Clinical Variant Scientist

Posted 2025-08-23
Remote, USA Full Time Immediate Start
<p>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 <a href="http://www.genedx.com/">www.genedx.com</a>.</p>
<p><strong>Summary</strong></p>
<p>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.</p>
<p>Shift: Must be flexible to work evenings and weekends (Tues - Sat or Thur - Sun). In addition to competitive salary, shift differentials are included for evenings and weekends.&nbsp;&nbsp;</p>
<p><strong>Job Duties and Responsibilities&nbsp;</strong>include the following. Other duties may be assigned.</p>
<ul>
<li>Efficiently evaluates and provides assessment of pathogenicity for detected DNA sequence variants and/or DNA Copy Number Variations (CNVs) following standard procedures and policies.</li>
<li>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.</li>
<li>Provides clear and error-free records of findings for report writers.</li>
<li>Analyzes proficiency testing samples in the same manner as patient testing.</li>
<li>Meets or exceeds annual continuing education requirements.</li>
</ul>
<p><strong>Auxiliary Assignments</strong></p>
<ul>
<li>May support training by:
<ul>
<li>Presenting training materials to new employees, clinical staff, and rotating fellows</li>
<li>Updating training materials</li>
<li>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.</li>
<li>Providing feedback on trainee progress to the leaders of the training program</li>
<li>Acting as a resource for trainees and other colleagues</li>
</ul>
</li>
<li>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.</li>
<li>May provide meaningful suggestions for ongoing process improvement.</li>
<li>May join and participate in internal and/or cross-functional teams that advance development projects or resolve case-related questions.</li>
<li>May contribute to the creation and revision of relevant analysis SOPs.</li>
</ul>
<p><strong>Key Features and Attributes:</strong></p>
<ul>
<li>Independence and Autonomy:
<ul>
<li>Complies with all policies and procedures.</li>
<li>Works within standardized procedures and practices to achieve objectives and meet deadlines.</li>
<li>Receives instruction, guidance, and direction from others; receives general instructions on newly introduced assignments.</li>
<li>Can explain technical issues to teammates.</li>
</ul>
</li>
</ul>
<ul>
<li>Quality, Quantity and Attention to Detail:<br><br>
<ul>
<li>Typically produces high quality, error-free work.</li>
<li>Aims to increase quantity of analyzed cases while maintaining high vetting accuracy.</li>
<li>Meets or exceeds target workload with high accuracy and attention to detail.<br><br></li>
</ul>
</li>
<li>Collaboration and Teamwork:
<ul>
<li>Works well in a team setting.</li>
<li>Exchanges standard information with colleagues and immediate supervisor, project leaders and other professionals in the team/group.</li>
<li>Builds stable working relationships internally.<br><br></li>
</ul>
</li>
<li>Innovation and Problem Solving:<br><br>
<ul>
<li>Solves routine problems using existing procedures and standard practices and professional judgement.</li>
<li>Applies knowledge and basic problem-solving techniques to define and resolve routine issues. Determines a course of action based on guidelines.</li>
<li>Participates in troubleshooting as needed, seeking support from supervisors, leads and managers as appropriate.</li>
<li>Uses personal insight and professional tools to evaluate patient results using the most current information available.</li>
</ul>
</li>
</ul>
<p><strong>Qualifications</strong> 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 required. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.</p>
<p><strong>Competencies</strong></p>
<p>Mathematical, computer, reasoning, and language skills at the professional level.<br>Excellent verbal and written communication skills.</p>
<p><strong>Education and/or Experience</strong></p>
<p>The employees must have a PhD in medical technology, chemistry, biology, or related life science OR have an MS in MS in medical technology, genetic counseling, chemistry, biology, or related life science plus 2 years relevant work experience.&nbsp; The employee must meet CLIA and New York State personnel standards criteria.</p>
<p><strong>Physical Demands</strong> The physical demands described here are representative of those that must be met by an employee to successfully perform the essential functions of this job. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.</p>
<p>While performing the duties of this Job, the employee is regularly required to talk or hear.&nbsp; The employee is frequently required to sit.&nbsp; The employee is occasionally required to stand; walk; use hands to finger, handle, or feel and reach with hands and arms. The employee must occasionally lift and/or move up to 10 pounds.&nbsp;</p>
<p><strong>Work Environment</strong> The work environment characteristics described here are representative of those an employee encounters while performing the essential functions of this job. Reasonable accommodations may be made to enable individuals with disabilities to perform the essential functions.</p>
<p>#LI-REMOTE</p>
<p>&nbsp;</p><div class="content-pay-transparency"><div class="pay-input"><div class="title">Pay Transparency, Budgeted Range</div><div class="pay-range"><span>$77,441</span><span class="divider">—</span><span>$96,801 USD</span></div></div></div><div class="content-conclusion"><p style="text-align: left;">~</p>
<p style="text-align: left;"><strong>Science - Minded, Patient - Focused.&nbsp;</strong></p>
<p style="text-align: left;">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.</p>
<p style="text-align: left;"><strong>Experts in what matters most.&nbsp;</strong></p>
<p style="text-align: left;">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.</p>
<p style="text-align: left;"><strong>SEQUENCING HAS THE POWER TO SOLVE DIAGNOSTIC CHALLENGES. </strong></p>
<p style="text-align: left;">From sequencing to reporting and beyond, our technical and clinical experts are providing guidance every step of the way:</p>
<p style="text-align: left;"><strong>TECHNICAL EXPERTISE</strong></p>
<ul>
<li style="text-align: left;"><em>High-quality testing</em>:&nbsp;Our laboratory is CLIA certified and CAP accredited and most of our tests are also New York State approved.</li>
<li style="text-align: left;"><em>Advanced detection</em>:&nbsp;By interrogating genes for complex variants, we can identify the underlying causes of conditions that may otherwise be missed.</li>
</ul>
<p style="text-align: left;"><strong>CLINICAL EXPERTISE</strong></p>
<ul>
<li style="text-align: left;"><em>Thorough analysis</em>:&nbsp;We classify variants according to our custom adaptation of the most recent guidelines. We then leverage our rich internal database for additional interpretation evidence.</li>
<li style="text-align: left;"><em>Customized care</em>:&nbsp;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.</li>
<li style="text-align: left;"><em>Impactful discovery</em>:&nbsp;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.</li>
</ul>
<p style="text-align: left;">Learn more About Us <a href="https://www.genedx.com/about-us" target="_blank">here</a>.</p>
<p><strong>Our Culture</strong></p>
<p>At GeneDx, we are dedicated to cultivating an environment where creativity and innovation thrive. We believe in the power of community and collaboration, where diverse perspectives are embraced, and every voice contributes to our shared success. Our team is a vibrant mix of professionals who challenge and support each other in equal measure, fostering growth both personally and professionally. When you join us, you're not just taking on a job—you're joining a movement. A movement that champions curiosity, embraces change, and believes in making an impact, one patient at a time. Cultural principles we live by:  </p>
<ul>
<li>Be bold in our vision &amp; brave in our execution. </li>
<li>Communicate directly, with empathy. </li>
<li>Do what we say we're going to do.  </li>
<li>Be adaptable to change.  </li>
<li>Operate with a bias for action.   <strong><em>&nbsp;</em></strong></li>
</ul>
<p style="text-align: left;"><strong>Benefits include:</strong></p>
<ul style="text-align: left;">
<li>Paid Time Off (PTO)</li>
<li>Health, Dental, Vision and Life insurance</li>
<li>401k Retirement Savings Plan</li>
<li>Employee Discounts</li>
<li>Voluntary benefits</li>
</ul>
<p style="text-align: left;"><strong>GeneDx is an Equal Opportunity Employer.<br><br></strong>All privacy policy information can be found <a href="https://www.genedx.com/privacy" target="_blank">here</a>.</p></div>
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