A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.
Ken WileyLaura FindleyMadison GoldrichTejinder K Rakhra-BurrisAna StevensPamela WilliamsCarol J BultRex ChisholmPatricia DeverkaGeoffrey S GinsburgEric D GreenGail JarvikGeorge A MensahErin RamosMary V RellingDan M RodenRobb RowleyGil AlterovitzSamuel AronsonLisa BastaracheJames J CiminoErin L CrowgeyGuilherme Del FiolRobert R FreimuthMark A HoffmanJanina JeffKevin JohnsonKensaku KawamotoSubha MadhavanEneida A MendoncaLucila Ohno-MachadoSiddharth PratapCasey Overby TaylorMarylyn D RitchieNephi WaltonChunhua WengTeresa Zayas-CabánTeri A ManolioMarc S WilliamsPublished in: Journal of the American Medical Informatics Association : JAMIA (2022)
Discussions centered on identifying gaps and barriers that impede the use of GCIT in genomic medicine. Emergent themes from the meeting included developing an implementation science framework, defining a value proposition for all stakeholders, fostering engagement with patients and partners to develop applications under patient control, promoting the use of relevant clinical workflows in research, and lowering related barriers to regulatory processes. Another key theme was recognizing pervasive biases in data and information systems, algorithms, access, value, and knowledge repositories and identifying ways to resolve them.
Keyphrases
- healthcare
- end stage renal disease
- primary care
- newly diagnosed
- machine learning
- ejection fraction
- chronic kidney disease
- electronic health record
- quality improvement
- big data
- peritoneal dialysis
- case report
- transcription factor
- copy number
- single cell
- gene expression
- dna methylation
- global health
- hepatitis c virus
- hiv infected
- genome wide