HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.
AMIA Annu Symp Proc
; 2023: 689-698, 2023.
Article
en En
| MEDLINE
| ID: mdl-38222332
ABSTRACT
The HerediGene Population Study is a large research study focused on identifying new genetic biomarkers for disease prevention, diagnosis, prognosis, and development of new therapeutics. A substantial IT infrastructure evolved to reach enrollment targets and return results to participants. More than 170,000 participants have been enrolled in the study to date, with 5.87% of those whole genome sequenced and 0.46% of those genotyped harboring pathogenic variants. Among other purposes, this infrastructure supports (1) identifying candidates from clinical criteria, (2) monitoring for qualifying clinical events (e.g., blood draw), (3) contacting candidates, (4) obtaining consent electronically, (5) initiating lab orders, (6) integrating consent and lab orders into clinical workflow, (7) de-identifying samples and clinical data, (8) shipping/transmitting samples and clinical data, (9) genotyping/sequencing samples, (10) and re-identifying and returning results for participants where applicable. This study may serve as a model for similar genomic research and precision public health initiatives.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
1_ASSA2030
Problema de salud:
1_medicamentos_vacinas_tecnologias
Asunto principal:
Salud Pública
/
Genómica
Tipo de estudio:
Prognostic_studies
Aspecto:
Determinantes_sociais_saude
Límite:
Humans
Idioma:
En
Revista:
AMIA Annu Symp Proc
Asunto de la revista:
INFORMATICA MEDICA
Año:
2023
Tipo del documento:
Article