The North Thames NHS Genomic Medicine Centre (NTGMC)
The North Thames NHS Genomic Medicine Centre (NTGMC), led by Great Ormond Street Hospital NHS Foundation Trust, was one of 13 regional Genomic Medicine Centres in England created to help deliver the Government’s 100,000 Genomes Project, which sequenced and analysed, 100,000 genomes from participants with cancer and rare disorders.
Eight hospital trusts in north London participating in the 100,000 Genomes Project formed the North Thames NHS Genomic Medicine Centre partnership:
- Great Ormond Street Hopspital
- Barts Health NHS Trust
- Barking Havering and Redbridge University Hospitals NHS Trust
- London North West Healthcare NHS Trust
- Moorfields Eye Hospital NHS Foundation Trust
- Royal Free London NHS Foundation Trust
- Royal National Orthopaedic Hospital NHS Trust
- University College London Hospitals NHS Foundation Trust
The Centre’s initial role was to coordinate recruitment to the project, working with healthcare professionals across North Thames to identify and invite to participate patients who might benefit most from genomic testing who were receiving care at all hospitals in the centre.
Once the project had been introduced to patients by their healthcare professional, the Centre’s staff approached the patient to explain the project in detail.
Patients were then asked for their consent to provide blood, or blood and tumour samples for genomic analysis.
In the rare disease section of the project the Centre also approached a patient’s unaffected family members to give consent to take part in the study. This would allow better understanding of why some members of the family had the condition and others did not.
The NTGMC partnership was very successful and they submitted over 23,800 DNA samples (23%) into the national project. 17,770 samples from patients and their families effected by rare diseases (about 9,000 patients) and 6,030 from patients with cancer.
The Centre then took on the role of analysing and interpreting the sequencing data in order to feed back to the patients’ clinicians like any other NHS test.
Participants’ genomics and health data, in an anonymised form, was available to approved research teams trying to improve understanding of genetics in general health and disease.
Although submission of samples to the 100,000 Genomes Project is now complete there is outstanding work for the Centre in relation to participants, which includes analysing and returning all of the results, asking those turning 16 years old if they wish to continue to be part of the project as an adult, uploading consent forms and addressing outstanding consent and data queries.
Another important piece of the GMC’s work is, analysing samples provided by participants for additional or “secondary” findings in their genome for those participants who asked for this information. These are unrelated to the “primary” clinical reason that led them to take part.
Secondary findings of note would be genomic changes that are known to cause serious, life threatening conditions and increased risk of certain genetic diseases, some of which can be prevented or reduced by NHS treatment.
Identifying these additional findings can take time as the science develops and evidence base increases. So, people who consented to this analysis are only informed where there is strong scientific evidence that the changes in their genome can cause a disease. Findings are initially fed back to the NHS laboratories to confirm the result. The results are given to the individual by a clinician who is able to help explain the impact of these findings for the person and their family.
These results are yet to be analysed by Genomics England but we hope that we will be able to start returning these later in 2020. All participants who consented to receive information on additional findings will be contacted about these results, whether or not anything significant was found.
The Centre also has a role in supporting the introduction of the NHS Genomics Medicine Service & Whole Genome Sequencing.