The present version of the European Health Data Space (EHDS) legislation, currently under trilogue discussion, mandates an opt-in mechanism specifically for human genetic, genomic, and proteomic data, in contrast to other electronic health data addressed by the EHDS.

The European Society of Human Genetics expresses profound concern over this provision, which could substantially hinder progress in the field of human genetics within Europe. The integration of genetic data into clinical practices is increasingly commonplace, particularly in areas such as oncology and rare disease diagnosis. An opt-in requirement will negatively affect the use of such data in research and will prevent patients, particularly those with rare diseases, from obtaining the significant benefits that may result from it. The decision to differentiate genomic data from other electronic health record information is not only arbitrary but also poses the risk of unfairly disadvantaging genomic medicine diagnostics and research.

While we understand the concerns about genetic privacy that underlie the proposal, we believe that it is perfectly feasible to alleviate such concerns by putting in place robust safeguards against misuse and re-identification. Requesting an opt-in framework will have a serious and negative impact on work to develop personalised treatments and cures, particularly in rare diseases where international collaboration and data-sharing are the only way forward.

Most prominent consortia worldwide use opt-out schemes, ensuring that participants are properly informed of their right to refuse to participate in the sharing of their data. An opt-in approach will be significantly more time-consuming and onerous to administer than an opt-out, and risks harming flagship European genomic research projects such as the Beyond 1 million Genomes and the Genome of Europe. We urge legislators to reconsider the substantial disadvantages associated with an opt-in system for genomics data, which could stifle European research as a whole.