As a result of a failing IT infrastructure, the NHS has made patients wait more than one year to receive results for genetic illnesses tests.
Whole genome sequencing is a medical technology that can be used to diagnose rare genetic diseases and cancers.
Matt Hancock was the former UK health secretary who backed the technology in his time as government. He said that it would “transform Britain into a superpower of life sciences”. The NHS Genomic Medicine Service will launch live clinical tests in November 2020.
Freedom of Information disclosures by NHS trusts revealed that at least 15 patients had to wait over a year for their results.
At the South East Genomic Laboratory hub (SEGLH), the patient who waited the longest was 602 days.
Internal NHS correspondence shows the concerns over the backloghave become so grave that Sue Hill, NHS England’s chief scientific officer raised the issue with all chief executive officers of Genomic Laboratory Hubs who manage the System in March.
NHS genomics experts say that delays are partly due to a poor performing IT system which underpins NGIS. NGIS still relies on staff to fill out paper order forms for tests.
After a 15-month Freedom of Information battle, it was revealed that relationships between staff collaborating to design the NGIS systems had broken down so badly they were cursing each other on internal message platforms. This resulted in a number “key functionality gaps”.
The staff criticised the rollout of a national IT system that used such outdated technology. Freedom-of-information disclosures by GLHs reveal that the NHS still employs staff to process paper test forms. Since 2020, they have spent more than PS1.3 million in administrative personnel.
Critics say that the IT infrastructure is not up to speed with the testing, but it has the potential to be revolutionary.
A specialist at the NHS explained that although WGS is a new and exciting technology, “its implementation was sadly lacking – there hasn’t been any attention paid to infrastructure”.
The report added that the process of requesting the test was slow, difficult and prone for mistakes because it relied on filling out paper forms. There are not enough clinical scientists, and there is an ever-growing backlog of reporting findings.
WGS is not yet suitable for use. Many of the previous genetic tests have been discontinued. It will take more than a full year to receive results if I request WGS today for a child who has problems.
The figures show the impact of WGS on turnaround times for some trusts.
In the South East Genomic Laboratory hub, the average turnaround time had decreased from 44 days to 169 days. At the Leeds Teaching Hospitals, part of the North East & Yorkshire Genomic Laboratory (NEYGLH), they had decreased from 41 days to 167 in January this year.
Statistics show that in six of the seven hubs which responded, as of February, a backlog was created of 6,492 test results that were returned by the testing company to the NHS but not further analysed.
Contracts show that the NHS spent hundreds of millions on WGS tests ordered in bulk from American biotech firm Illumina.
The Times reported in 2021 that David Cameron, the former Prime Minister, had asked Hancock for a meeting with Illumina’s CEO. This was weeks before the contract was awarded without competition. Illumina’s poor performance is not the cause of any delays that patients have experienced.
Louise Fish is the chief executive officer of Genetic Alliance UK. “Science has made great progress thanks to genomics. But people with rare genetic conditions, and their families, will only benefit from UK investments in NHS Clinical Genetics services, so that test results can quickly be shared with family members.
For some genetic conditions, a timely diagnosis allows a baby to receive a potentially life-saving treatment. Even when there is no specific treatment, a timely diagnosis is still important.
Sarah Wynn is the CEO of Unique. This charity supports those with rare chromosome disorders and gene disorders. She said: “Parents who are forced to wait for months or even years before receiving the results of genetic tests regularly share the stress that this delay causes on their family.
It can be a very painful and lonely experience to not know why your child has not reached their milestones, or is experiencing unexplained medical issues.
The new technologies, such as whole genome sequences, have the potential of providing a diagnosis and answer to many more families. However, huge delays in testing and receiving results are negatively impacting patients.
A spokesperson for NHS England and Genomics England stated: “The NHS Genomic Medicine Service has a world-leading status, with thousands of patients benefiting through better diagnoses, targeted treatment, and the prevention and prediction of certain diseases.
“NHS England has implemented a recovery plan, backed up by new investments to help tackle the backlog of reporting. It also established a digital board to ensure IT system integration so that test results can quickly be distributed across the country.”
An insider said that there are no other systems in a large country which work as well as the NHS programme in terms of testing and analysis.
A NEYGLH spokeswoman apologized for the delays, and said that they were looking at ways to improve. SEGLH spokeswoman said that urgent cases are prioritised and testing was affected by a summer 2022 IT outage. The turnaround plan was said to have led to improvements.