David P Taylor, Bret S E Heale, Benjamin Chisum, G Bryce Christensen, Darin F Wilcox, Kevin M Banks, Jacob S Tripp, Teresa Liu, James B Ruesch, Travis J Sheffield, Jesse W Breinholt, J Clay Harward, Erin C Hakoda, Ted May, Joshua L Bonkowsky, Nephi A Walton, Howard L McLeod, Lincoln D Nadauld, Pallavi Ranade-Kharkar
{"title":"HerediGene 人口研究 IT 基础设施：支持基因组研究招聘和精准公共卫生的模式。","authors":"David P Taylor, Bret S E Heale, Benjamin Chisum, G Bryce Christensen, Darin F Wilcox, Kevin M Banks, Jacob S Tripp, Teresa Liu, James B Ruesch, Travis J Sheffield, Jesse W Breinholt, J Clay Harward, Erin C Hakoda, Ted May, Joshua L Bonkowsky, Nephi A Walton, Howard L McLeod, Lincoln D Nadauld, Pallavi Ranade-Kharkar","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72180,"journal":{"name":"AMIA ... Annual Symposium proceedings. AMIA Symposium","volume":"2023 ","pages":"689-698"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10785925/pdf/","citationCount":"0","resultStr":"{\"title\":\"HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.\",\"authors\":\"David P Taylor, Bret S E Heale, Benjamin Chisum, G Bryce Christensen, Darin F Wilcox, Kevin M Banks, Jacob S Tripp, Teresa Liu, James B Ruesch, Travis J Sheffield, Jesse W Breinholt, J Clay Harward, Erin C Hakoda, Ted May, Joshua L Bonkowsky, Nephi A Walton, Howard L McLeod, Lincoln D Nadauld, Pallavi Ranade-Kharkar\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":72180,\"journal\":{\"name\":\"AMIA ... Annual Symposium proceedings. AMIA Symposium\",\"volume\":\"2023 \",\"pages\":\"689-698\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10785925/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"AMIA ... Annual Symposium proceedings. AMIA Symposium\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"AMIA ... Annual Symposium proceedings. AMIA Symposium","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
