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The results obtained from genomic tests provided directly to consumers cannot be integrated into Genomics...
Recommendation
The results obtained from genomic tests provided directly to consumers cannot be integrated into Genomics England or NHS records since they do not always meet the standards required of the end-to-end testing and data handling process. Enabling tests that are provided directly to consumers to demonstrate that they meet the required standards could help to: reduce the likelihood of false positive or false negative results; facilitate the sharing of data obtained from direct-to- consumer tests, which could potentially support research efforts; and reduce the need for the NHS to re-test individuals following a commercially-obtained test, potentially reducing the burden placed on the NHS by direct-to-consumer tests. The Government should work with Genomics England and the NHS to define clear technical standards for direct-to-consumer genomic testing that, if met, would enable the genomic data generated by the test to be used and trusted by Genomics England Direct-to-consumer genomic testing 51 and the NHS. The Government should also establish a mechanism by which providers of direct-to-consumer genomic tests could validate that their tests met these standards.
Paragraph Reference
44
Government Response
Acknowledged
Government Response
Acknowledged
HM Government
Acknowledged
The Government acknowledges the critical importance of genomic test results meeting appropriate standards and requirements should they have the potential for use in the NHS. We acknowledge that there are a series of practical challenges relating to data standards and clinical validity of DTC genomic tests but believe this is predicated on having more effective scientific and clinical regulation of the devices themselves, before integrating their data into NHS and/or Genomics England (GEL) records. All NHS laboratories, including the seven NHS Genomic Laboratory Hubs (GLHs) are accredited and assured through the United Kingdom Accreditation Service (UKAS) under the ISO:15189 standard, which ensures quality and competency for all testing delivered in medical laboratories. The scientific and clinical specification of DTC genomic tests do not currently adhere to the same clinical standards as those used in the NHS. Until they do, for example through more effective regulation, bringing those results directly into health records may lead to undue confidence in those results, even if the technical data standards to integrate them had been reached. In time, NHS England and NHS Improvement will work with NHS laboratories, the NHS Genomics Clinical Reference Group, GEL, and others to agree a position on how comparable technical and reporting standards for DTC genomic testing should be developed and implemented. This will utilise the technical standards on how to describe and share human genetics and genomics data, developed by the international organisation the Global Alliance for Genomics and Health (GA4GH), which is supported by the UK’s National Institute for Health Research (NIHR) and Medical Research Council (MRC), along with other international funders. Both GEL and other key research datasets, such as UK BioBank, have commitments to implement GA4GH standards which will minimise harms and maximise research outcomes. There are also secondary data standards to consider, for instance that standardise the causal link between genetic information and specific diseases. This involves international collaboration between organisations such as the European Bioinformatics Institute (EMBL-EBI), National Centre for Biotechnology Information (NCBI), GEL, US National Institute for Health (NIH) and other clinical research institutes world-wide. Here the support from the UK Government to key institutions, including the support of EMBL- EBI (via UK Research and Innovation, ultimately via BEIS) and GEL (via the Office for Life Sciences) is key to an open, standard understanding of human health and disease which is kept up to date as knowledge progresses. The Government have established a Data Working Group under the Genome UK Implementation Coordination Group to consider the steps needed to implement the commitments under the “Data” theme in the Genome UK strategy. Part of this work will bring together key delivery organisations (such as GEL, NHS England and Improvement, and UK Biobank) to work through the practical challenges of implementing GA4GH standards into their systems. This expert group will keep the Committee’s recommendation in mind as we continue the implementation of Genome UK.
Source
Inquiry
Commercial genomics
Report
First Report - Direct-to-consumer genomic testing
22 Jun 2021
HC 94
Addressee Bodies
Department for Science, Innovation and Technology
Timeline
Recommendation age
4.9 yrs
Report published
22 Jun 2021