The challenges of bringing next-generation sequencing to patients

Medical genomics and next-generation sequencing may be a major game changer in healthcare and diagnostics. By using the knowledge of an individual’s genomic make-up to identify those with higher risks of certain conditions, it could enable healthcare professionals to intervene at earlier stages.
Couple this with pharmacogenetic testing, which shows how a person’s genes affect their body’s response to certain medicines, and the way in which patients are treated in the future could be life changing.
With this in mind, there are currently two projects in the EU each receiving approximately €11m in funding as part of the Horizon 2020 framework, which aim to bring next-generation sequencing into routine diagnostics and closer to the patient.
Prof Kurt Zatloukal is a professor of pathology at the Medical University of Graz in Austria, which is a consortium partner on one of the two EU-funded projects. The project in which he is involved, Instand-NGS4P , is looking at ways to better provide access to next-generation sequencing for cancer patients and meet with regulatory requirements.
Zatloukal, who recently spoke at a genomic medicine webinar hosted by Genuity Science, talked to about the challenges that come with bringing next-generation sequencing to routine healthcare.
“I think sequencing has a tremendous success story from sequencing the first human genome to what we can do today,” he said. “But what is interesting is even though there is this remarkable success in research, still not many patients benefit from next-generation sequencing in routine healthcare outside of research programmes.”
The difference in regulations
Zatloukal said one of the biggest roadblocks to bringing next-generation sequencing into routine healthcare is the additional regulations of diagnostics that lie outside of research. “It’s quite a challenge that such complex and advanced technologies fulfil these regulatory requirements.”
In Europe, this means complying with the In Vitro Diagnostic Regulation (IVDR), which came into force in May 2017. Manufacturers of currently approved in-vitro diagnostic medical devices have until May 2022 to meet the requirements of the IVDR, which means that these regulations must be considered when bringing next-generation sequencing from research to routine diagnostics.
Additionally, as with most innovations, GDPR comes into play, because when you’re dealing with genetic information, you’re handling “a very sensitive category” of data. “When you have a certain amount of genetic information, it gets unique for a person so it’s a very powerful identifier,” said Zatloukal.
“This reduces our opportunities to anonymise genetic data. We have to work mostly with identifiable data, therefore GDPR fully applies.”
He also flagged the challenge of exchanging genetic information internationally. “If we collect genetic data from...