Genomics Data Specialist

Genomic Data Specialist is an integral part of the Children's Hospital Colorado Precision Diagnostics Laboratory team. Advancing our understanding of genomics and for providing accurate evaluation of genomics data for effective diagnoses and treatment of our patients. Provides technical insights into the genomic signatures for both somatic and germline driven diseases. Works with a multidisciplinary team of healthcare professionals, including laboratory technologist, variant analysts, software engineers, data analysts, genetic counselors, scientific directors, and physicians to provide technical expertise in interpretation of genomics laboratory test results with primary responsibility for processing sequence data into reportable genomics reports.

Additional Information:

Hours per week: 40, eligible for benefits
Shift: Days, Monday - Friday, with potential to support urgent test requests as needed on weekends and holidays.

*This is a hybrid position.

Duties & Responsibilities

• Evaluated and modifies data models of high complexity clinical data. Performs analytics, track data quality metrics, and keep meticulous records.

• Develops and aggregates metrics and intervenes and provides solutions to ensure optimum test performances and keep comprehensive documentation.

• Convert current analytic logic into data assets that may be reused for technology solutions further down the line.

• Implement solutions to address business needs in the areas of outcomes studies, technology, analytics.

• Assist in coordinating the enterprise's data pipeline by serving as a technical liaison between teams.

• Examines and updates study procedures to ensure that statistical methods and presentation are accurate, consistent, thorough, and of high quality.

• Conduct clinical validation include rigorously analyzing and interpreting clinical and genetic information, assuring accurate data interpretation of enormous technical data sets, conducting proficiency testing, and contributing to the creation and refining of new tests.

• Establishes study samples, determines patient or disease cohorts, and arranges data files in accordance with research goals and study design to create data structures.

• Serves as the technical content specialist partnering with Data Engineers to ensure validity of ETL from several databases; additionally, verifies it searches schemas, informs on data clean up processes, and data merges for downstream analysis.

• Performs quality control checks on data to ensure accuracy and consistency by looking for anomalies, frequency, and distribution of data points; identifies the main reasons behind errors, suggests fixes, and uses queries and programming scripts to fix data problems. As appropriate troubleshoots performance and equipment when results are suspect.

• Adheres to the company's policies and processes addressing data security, quality assurance, human subject research ethics, and HIPAA security and privacy regulations.

• Creating, evaluating, and quickly disseminating novel insights to provide our patients with high-quality care. Leveraging the robust infrastructure in clinical genomics to drive continuous improvements in data insights and partner with the innovation and bioinformatics team to ensure the foundational aspect of a true learning healthcare system.

• Charged with keeping up-to-date knowledge of quality indicators and laboratory laws, as well as actively participating in accreditation readiness and inspections of the laboratory.

• Adheres to standard operating procedures when instructing, preparing, and/or mentoring new hires, students, and other healthcare professionals.

• In charge of carrying out quality assurance tasks including upkeep, data collection, calibration confirmation, and quality control evaluation.

Minimum Qualifications

EDUCATION - Doctoral degree (Ph.D. or M.D./Ph.D.) in a quantitative field such as genetics, molecular biology, biochemistry, bioinformatics, clinical laboratory science, or a related field from an accredited institution.

EXPERIENCE - Four (4) years' experience in a clinical laboratory setting. Broad knowledge of genetics, molecular biology, and sequencing technologies. Experience with clinical data, electronic health records (EHR) and a basic knowledge of Python or R, and SQL and a working knowledge of data quality, and bioinformatics tools.

EQUIVALENCY - Combination of education and/or clinical relevant experience: bachelor degree and ten (10) years or masters degree and six (6) years.

Salary Information
Pay is dependent on applicant's relevant experience.

Annual Salary Range (Based on 40 hours worked per week): $97,718.13 to $146,577.19

Benefits Information
Here, you matter. As a Children's Hospital Colorado team member, you will receive a competitive pay and benefits package designed to take care of your needs that includes base pay, incentives, paid time off, medical/dental/vision insurance, company provided life and disability insurance, paid parental leave, 403b employer match (retirement savings), a robust wellness program, and access to professional development tools, including an education benefit to help you advance your career.

As part of our Total Rewards package, Children's Colorado offers an annual employee bonus program that rewards eligible team members based on organizational performance. If organizational goals are met for the year, the bonus is paid out the following April.

Children's Colorado delivers annual base pay increases to eligible team members based on their performance over the previous year.

EEO Statement
It is our intention that all qualified applicants be given equal opportunity and that selection decisions be based on job-related factors. We do not discriminate on the basis of race, color, religion, national origin, sex, age, disability, or any other status protected by law or regulation. Be aware that none of the questions are intended to imply illegal preferences or discrimination based on non-job-related information. The position is expected to stay open until the posted close date. Please submit your application as soon as possible as the posting is subject to close at any time once a sufficient pool of qualified applicants is obtained.

Colorado Residents: In any materials you submit, you may redact or remove age-identifying information such as age, date of birth, or dates of attendance at or graduation from an educational institution. You will not be penalized for redacting or removing this information.