Should patients have full access to their genomic data?

Yes 76.2%

No 16.7%

Other ideas:

“A full report would be useful. Access to the raw data itself seems a little pointless, but having rights to the data would be good i.e. have the option to have it sent to someone else to run another analysis on it etc.”

“Full access with professional help to interpret data and warn against making clinical judgements on limited data about VUS etc”

Almost a resounding “yes” to this question! For most people, enabling patients to have full access to their own genomic data is a no-brainer. Patients have the right to autonomy over their own healthcare and healthcare data, and this includes any genomic information. But what form should that access take?

The obvious option is to give the patient a complete copy of their genomic sequence data, whether from a targeted panel test or from a whole genome sequence. This information could be useful for a patient, enabling them to take their data to other clinicians for a second opinion, or request re-analysis if and when new variant information becomes available. And this solution could remove the burden of storage from clinical laboratories; keeping patients’ sequences on file can quickly eat up hard drive space. However, as one of our poll responders pointed out, access to the raw data without any form of interpretation raises several problems. For example, sequencing is not always 100% accurate – both false negatives and false positives can occur – and a clinical laboratory might be able to spot these based on medical knowledge and training, patients may not necessarily have access to this if operating independently. The data on its own is not enough.

An ideal situation would be to have any and all patient genomic data held electronically. This way a patient can access their own information if they choose, and have the option to easily pass it on to another laboratory for re-analysis or to look for other variants. And this approach is enormously beneficial to research, giving scientists the option to query huge databases of genomic data. Within healthcare, projects like eMERGE are exploring how genomic data can integrate into electronic medical records to support both healthcare and research. The 100,000 Genomes Project is building a huge database of de-identified patient data, intended for research and healthcare purposes. And in the private sector new ventures like Helix are seeking to place users’ genomic information, along with a suite of ‘apps’ to interpret it, in the palm of the hand.

One thing is for sure, patient data access is part of the future of precision medicine, and now the race is on to create a system that benefits both healthcare and research.

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