Population-Based Genomic Screening

Population-based genomic screening involves testing a large group of people for genetic conditions, regardless of symptoms, to identify those who may benefit from early treatment or preventive measures, aiming to improve health outcomes.

In Our DNA SC

MUSC launched a population-based genomic screening program, In Our DNA SC, in November 2021. The community health research project aims to enroll 100,000 participants. For more information visit In Our DNA SC.

Publications

Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants
Allen, C., Hunt, K., McMahon, L., Thornhill, C., Jackson, A., Clark, J.T., Kirchoff, K., Garrison, K.L., Foil, K., Malphrus, L., Norman, S., Ramos, P.S., Perritt, K., Brown, C., Lenert, L., & Judge, D.P. (2024). Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants. The American Journal of Human Genetics 111 (3) 433-444. DOI: 10.1016/j.ajhg.2024.01.004

Lessons Learned from the Pilot Phase of a Population-Wide Genomic Screening Program: Building the Base to Reach a Diverse Cohort of 100,000 Participants
Allen, C.G., Hunt, K., Judge, D., Levin, E., Clinton, C., Sterba, K., Ramos, P., Melvin, C., Wager, K., Catchpole, K., Ford, M., Gallegos, S., McMahon, L., Lenert, L. (2022). Lessons Learned From The Pilot Phase Of A Population-Wide Genomic Screening Program: Building The Base To Reach A Diverse Cohort Of 100,000 Participants. Journal Of Personalized Medicine. doi: 10.3390/jpm12081228

Use of a multi-phased approach to identify and address facilitators and barriers to the implementation of a population-wide genomic screening program
Allen, C.G., Sterba, K., Norman, S., Jackson, A., Hunt, K., McMahon, L., Judge, D. (2023). Use Of A Multi-Phased Approach To Identify And Address Facilitators And Barriers To The Implementation Of A Population-Wide Genomic Screening Program. Implementation Science Communication. DOI: 10.1186/s43058-023-00500-9

A pragmatic implementation research study for In Our DNA SC: a protocol to identify multi-level factors that support the implementation of a population-wide genomic screening initiative in diverse populations
Allen, C.G., Judge, D., Sterba, K., Hunt, K., Ramos, P., Melvin, C., Catchpole, K., Levin, E., Clinton, C., Ford, M., Wager, K., McMahon, L., Lenert, L. (2022). A Pragmatic Implementation Research Study For In Our DNA SC: A Protocol To Identify Multi-Level Factors That Support The Implementation, Adaptation, And Sustainment Or A Population-Wide Genomic Screening Initiative In Diverse Populations. Implementation Science Communications. DOI: 10.1186/s43058-022-00286-2

In the News

South Carolina's 'In Our DNA SC' aims for 100k participants in diverse health research (WCIV)

Genetics Studies Have a Diversity Problem Researchers Struggle to Fix (Word in Black)

FOCUS: Facilitating the Implementation of Population-based Genomic Screening Across Diverse Populations and Settings

We will use implementation mapping to conduct a needs assessment of population-based genomic screening programs and evaluate the utility of the implementation guide using a stepped wedge cluster randomized trial design.