Clinical Data Analyst NGS Genomics

Description

Shift : M-F / Days / No Weekends / Hybrid (must be local or willing to relocate)

Performs technical quality review of data from high complexity genetic testing methodologies such as Next-Generation Sequencing (NGS), MLPA, microarrays, fragment analysis and Sanger sequencing.

Using existing databases and newly-developed analysis tools, performs technical and clinical interpretation of genetic sequence alterations identified through Next-Generation Sequencing (NGS).

Performs initial analysis / quality review of test data and assists the Genetic Counselors / Medical Directors in drafting preliminary patient reports for molecular genetic tests.

In collaboration with laboratory technologists, identifies opportunities to improve data accuracy / integrity by evaluating, refining and improving analysis / variant interpretation workflows, and assists in the continued development of standard operating procedures.

Recognizes the clinical significance of each test performed, maintains the confidential and sensitive nature of patient information and results, and adheres to HIPAA regulations for transactions, security and confidentiality, and reports results within established time frames.

Maintains a professional level of knowledge of molecular biology and genetics to properly analyze molecular genetic test results;

in particular, in the context of abnormal or atypical findings, by conducting comprehensive literature review. Keeps current with new and evolving clinical standards and workflows, particularly for next generation sequencing and variant interpretation guidelines from ACMG.

Participates in, and successfully completes all proficiency testing. Ensures compliance with CLIA / CAP requirements and adheres to the laboratory's documented Quality Management Plan.

Supports activities of the molecular diagnostic lab pertaining to new test and technology development and continued expansion of next-generation sequencing based tests.

Participates in education and mentorship of other lab staff through direct interaction and presentations. Serves as a technical resource on next-generation sequencing analysis pipelines and relates expertise to staff.

Involved in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.

Other job functions as assigned.

Knowledge, Skills and Abilities Required :

Ph.D. in a field directly related to human genetics and genomics required, with a strong desire to work in a clinical environment.

Experience analyzing Next-Generation Sequencing data (whole genome / exome, RNA seq and custom panels) with commonly used bioinformatics tools and databases preferred (e.

g. Mutation Surveyor, ClinVar, OMIM, HGMD).

Experience in Next-Generation Sequencing or molecular biology bench work highly preferred.

Experience working in a team-based environment with strong work ethic, time management skills, and proven productivity. Excellent verbal and written communicator with strong technical documentation capabilities.

Demonstrated analytical and problem-solving skills with good attention to details.

Education PhD (Required) Benefit Statement For full time and part time employees who work 20 or more hours per week we offer a generous benefits package that includes : Medical, dental and vision insuranceEmployer paid group term life and disabilityEmployer contribution toward Health Savings AccountFlexible Spending AccountsPaid Time Off (PTO), Paid Holidays and Paid Parental Leave403(b) with a 5% employer matchVarious voluntary benefits :

Supplemental Life, AD&D and Disability

Critical Illness, Accident and Hospital Indemnity coverage

Tuition assistance

Student loan servicing and support

Adoption benefits

Backup Childcare and Eldercare

Employee Assistance Program, and other specialized behavioral health services and resources for employees and family members

Discount on services at Lurie Children’s facilities

Discount purchasing program

There’s a Place for You with Us At Lurie Children’s we embrace and celebrate diversity and equity in a serious way. We are committed to building a team with a variety of backgrounds, skills, and viewpoints recognizing that diverse identities strengthen our workplace and the care we can provide to the Chicago community and beyond.

We treat everyone fairly, appreciate differences, and make meaningful connections that foster belonging and allyship. This is a place where you can be your best, so we can give our best to the patients and families who trust us with their care. Support email :