The International Organization for Standardization (ISO) has published Phenopackets, the first clear computational way to responsibly share individual patient traits, removing a major barrier to research on disease diagnosis, treatment, and mechanism discovery.
The standard was initially developed by the Global Alliance for Genomics and Health (GA4GH) and championed at ISO under the Canadian Mirror Committee to ISO/TC215/SC1 Genomics informatics, and supported by the Standards Council of Canada.
“We finally have the very first standard for phenotype data available worldwide,” said University of Colorado professor Melissa Haendel, a GA4GH contributor who launched the Phenopacket idea eight years ago.
“Having this ISO standard will encourage software developers, infrastructure developers, healthcare systems to consider Phenopackets as a method for sharing patient-level information — securely and in a deidentified way — that can be useful for everything from rare to infectious diseases, and addressing many kinds of public health questions,” Haendel said.
The standard, “ISO 4454 Genomics informatics — Phenopackets: A format for phenotypic data exchange,” was published on 6 July 2022.