Challenges of health data standardization, harmonization and interoperability for rare hematological disorders in Europe in the GenoMed4all Project

Abstract

Poster presented by Mirco D’Agnolo (Università di Padova) at the AI4H Padova – Artificial Intelligence for Healthcare congress, under the title: “Challenges of health data standardization, harmonization and interoperability for rare hematological disorders in Europe in the GenoMed4all Project”


Networking with the 1+ Million Genomes initiative

On December 15th, we had the pleasure of attending a meeting hosted by Szymon Bielecki (EC DG CONNECT - Unit H3: eHealth, well-being and ageing) with the cluster of EU-funded projects on the topic of AI for Genomics and Personalised Medicine - PANCAIM, INTERVENE and KATY on the 1+ Million Genomes initiative, which brings together 22 European countries, the UK and Norway with the goal of making at least 1 million sequenced genomes accessible in the EU by 2022.

This was a great opportunity to directly interact and discuss ethics and legal concerns (mainly on data sharing) with representatives from the B1MG (Beyond 1 Million Genomes) and their working group on Ethical, Legal and Social Issues (ELSI).

Check out their work here and stay tuned for more updates on this collaboration!

 

 

Photo by Warren Umoh on Unsplash

D8.1 - Genomics Data Standardization Plan

Our second public deliverable -GenoMed4All’s Standardization Plan-has been uploaded to Zenodo!

Abstract

Minimum set of recommended standards for the analysis and sharing of the genomics dataset for haematology and oncology to be utilized in the GenoMed4All project. Furthermore, guidelines are also described to share phenotypic and other metadata collected from different clinical partners. A brief description of data harmonization and sharing using GA4GH phenopackets and FHIR standards, evaluation of best suited exchange format for genomics data and how to adapt and calibrate standardized data on local sites according to evaluation of clinical data set and genomics interface.

Photo by Glen Carrie on Unsplash