APHL-CDC Newborn Screening Bioinformatics and Data Analytics Fellowship (Saint Paul, MN)
Fellowship Overview:
Minnesota Department of Health is seeking a post-masters or post-doctoral fellow to participate in the APHL-CDC Newborn Screening (NBS) Bioinformatics and Data Analytics Fellowship program under the mentorship of the Newborn Screening Laboratory Supervisor. The Newborn Screening Fellowship Program, sponsored by the Association of Public Health Laboratories (APHL) and CDC, is a one- to two-year program that allows fellows to work on a range of important and emerging newborn screening bioinformatics issues, while gaining invaluable experience in the bioinformatics field.
Project Description:
The Minnesota newborn screening lab screens all babies for immunoreactive trypsinogen (IRT). If the IRT is elevated, the lab will screen for 39 CF causing variants. The current cystic fibrosis (CF) panel does not equally cover the entire MN population. By modifying the mutation panel, more babies will be identified as having cystic fibrosis and will receive early and proper medical interventions in a timely manner. The majority of positive CF results are carriers, but with a limited panel, the diagnostic outcome is not clear until sweat chloride testing is obtained at around one month of age. This delay in confirmation can cause parental anxiety as well as CF carrier symptoms. This work would help in reducing that anxiety with better positive predictive value in identifying affected cases. Additionally, it would allow for better tailoring of follow-up activities associated with children who are heterozygotes.
The proposed project would be to help implement next-generation sequencing testing and result reporting for CF in the Minnesota newborn screening lab to improve disease detection. The fellow will install sequencing instrumentation, ensure the cystic fibrosis testing panel will identify the babies missed by the current screening method (identify false negative specimens), validate sequencing testing with current newborn screening laboratory personnel, design and validate a high-performance computing system to analyze next-generation sequencing data, create a secure data repository for long term storage of data by working with Minnesota Enterprise IT, work with three CF centers in Minnesota on the reporting and utilization of sequencing information, and present data and learned lessons on a national level.
Eligibility:
• Applicants must be US citizens or permanent residents
• Applicants to the program must have completed a masters or doctorate degree in bioinformatics, genetics, genomics, public health, molecular biology, population health, biostatisticsor another related discipline by the program start date. The degree must have been received within the last five years.
Program benefits:
Fellows receive a stipend, allowances for medical insurance, professional development opportunities, 10 vacation days, medical leave, and complimentary membership to APHL. The 2020 fellowship stipend is between $54,095– 65,000/year depending on degree.