at Ann & Robert H. Lurie Children's Hospital of Chica in Lake Forest, Illinois, United States
Job Description
Ann & Robert H. Lurie Children's Hospital of Chicago provides superior pediatric care in a setting that offers the latest benefits and innovations in medical technology, research and family-friendly design. As the largest pediatric provider in the region with a 140-year legacy of excellence, kids and their families are at the center of all we do. Ann & Robert H. Lurie Children's Hospital of Chicago is ranked in all 10 specialties by the U.S. News & World Report.
Day (United States of America)
LocationOutpatient Center in Lincoln Park - Clark
Job Description
Essential Job Functions:
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:
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, RNAseq 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.
EducationPhD: Genetics, PhD: Molecular Biology
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 insurance
Employer paid group term life and disability
Employer contribution toward Health Savings Account
Flexible Spending Accounts
Paid Time Off (PTO), Paid Holidays and Paid Parental Leave
403(b) with a 5% employer match
Various 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
Lurie Children's and its affiliatesare equal employment opportunity employers. We value diversity and are committed to creating an inclusive environment for all employees. All qualified applicants will receive consideration for employment without regard to race, color, sex, sexual orientation, gender identity or expression,... For full info follow application link.
EEO/AA Employer/Vets/Disability
