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Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
Allen, Caitlin G; Hunt, Kelly J; McMahon, Lori L; Thornhill, Clay; Jackson, Amy; Clark, John T; Kirchoff, Katie; Garrison, Kelli L; Foil, Kimberly; Malphrus, Libby; Norman, Samantha; Ramos, Paula S; Perritt, Kelly; Brown, Caroline; Lenert, Leslie; Judge, Daniel P.
Afiliação
  • Allen CG; Medical University of South Carolina, Charleston, SC, USA. Electronic address: allencat@musc.edu.
  • Hunt KJ; Medical University of South Carolina, Charleston, SC, USA.
  • McMahon LL; Medical University of South Carolina, Charleston, SC, USA.
  • Thornhill C; Medical University of South Carolina, Charleston, SC, USA.
  • Jackson A; Medical University of South Carolina, Charleston, SC, USA.
  • Clark JT; Medical University of South Carolina, Charleston, SC, USA.
  • Kirchoff K; Medical University of South Carolina, Charleston, SC, USA.
  • Garrison KL; Medical University of South Carolina, Charleston, SC, USA.
  • Foil K; Medical University of South Carolina, Charleston, SC, USA.
  • Malphrus L; Medical University of South Carolina, Charleston, SC, USA.
  • Norman S; Medical University of South Carolina, Charleston, SC, USA.
  • Ramos PS; Medical University of South Carolina, Charleston, SC, USA.
  • Perritt K; Medical University of South Carolina, Charleston, SC, USA.
  • Brown C; Medical University of South Carolina, Charleston, SC, USA.
  • Lenert L; Medical University of South Carolina, Charleston, SC, USA.
  • Judge DP; Medical University of South Carolina, Charleston, SC, USA.
Am J Hum Genet ; 111(3): 433-444, 2024 03 07.
Article em En | MEDLINE | ID: mdl-38307026
ABSTRACT
We use the implementation science framework RE-AIM (reach, effectiveness, adoption, implementation, and maintenance) to describe outcomes of In Our DNA SC, a population-wide genomic screening (PWGS) program. In Our DNA SC involves participation through clinical appointments, community events, or at home collection. Participants provide a saliva sample that is sequenced by Helix, and those with a pathogenic variant or likely pathogenic variant for CDC Tier 1 conditions are offered free genetic counseling. We assessed key outcomes among the first cohort of individuals recruited. Over 14 months, 20,478 participants enrolled, and 14,053 samples were collected. The majority selected at-home sample collection followed by clinical sample collection and collection at community events. Participants were predominately female, White (self-identified), non-Hispanic, and between the ages of 40-49. Participants enrolled through community events were the most racially diverse and the youngest. Half of those enrolled completed the program. We identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions. The majority (77.4%) agreed to genetic counseling, and of those that agreed, 80.2% completed counseling. Twelve clinics participated, and we conducted 108 collection events. Participants enrolled at home were most likely to return their sample for sequencing. Through this evaluation, we identified facilitators and barriers to implementation of our state-wide PWGS program. Standardized reporting using implementation science frameworks can help generalize strategies and improve the impact of PWGS.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ciência da Implementação / Aconselhamento Genético Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ciência da Implementação / Aconselhamento Genético Idioma: En Ano de publicação: 2024 Tipo de documento: Article