Families of children with rare genetic disorders are being made to wait more than a year for genome sequencing results under a flagship NHS programme, the Guardian has learned.
Senior doctors said worsening backlogs in the Genomics Medicines Service risked children not accessing treatments or support designed to give them the best outcomes. In other cases, parents wishing to know if their child has an inherited genetic condition in order to plan future pregnancies are being left in limbo for unacceptable time periods, experts said.
Many of the cases involve babies or children who have missed developmental milestones and whose doctor suspects an underlying genetic cause.
Prof Anneke Lucassen, the director of the Centre for Personalised Medicine at the University of Oxford, said: “Clinicians want to offer advanced technologies in the clinic, but the waiting lists have become too long to do this effectively. It’s not unusual for there to be more than a year between sending the sample and delivering the result to the patient.”
A senior consultant who wished to remain anonymous said “non-urgent” patients at her hospital – one of the UK’s largest – whose blood was sent for sequencing today would be projected to wait more than three years, based on current turnaround times and a backlog of 700 cases. “The system is in crisis for routine testing,” she said.
The Genomics Medicine Service, launched in 2018 by the then health secretary, Matt Hancock, aimed to bring personalised medicine into the mainstream by identifying genetic causes of rare diseases and cancer to allow more targeted treatments. A goal was set to sequence 500,000 patient genomes over five years to form the basis of a DNA database that, it was hoped, would also become a valuable national asset for biomedical research and drug discovery. The government signed a £123m contract with the US company Illumina to deliver sequencing.
Lucassen said the government’s aim of widening access to genomics technologies was “laudable”, but the scale of ambition for the programme – and the 500,000 genome target – “seemed somewhat removed from the reality on the ground”.
She and other senior scientists say that while Illumina is delivering sequencing effectively, the service is being severely hampered by a lack of investment on the NHS side, citing an onerous, paper-based ordering system and shortages of scientists and clinical geneticists to carry out the detailed interpretation of sequence data and explain findings to patients.
Despite the extensive backlog, one clinician said doctors were being “bulldozed” into sending more samples for whole-genome sequencing when in some cases quicker targeted gene tests would be more clinically appropriate.
Urgent cases, such as critically ill patients or prenatal tests, are prioritised and results are typically delivered in weeks or days. However, there are long delays for non-urgent whole-genome sequencing, with an average turnaround time of 12 months at the South East Genomics regional hub and 314 days at the East Genomics service. The target time for these tests is 84 days.
Many cases involve babies or young children who have not met developmental milestones such as sitting, talking, walking and eating, where clinicians think there could be a genetic cause. Genome sequencing results often do not change the medical treatment, but a diagnosis can fast-track access to speech and language therapy or physiotherapy and be crucial for future reproductive choices. There are also some treatable conditions, including certain rare forms of epilepsy, where early intervention makes a significant difference.
“At the moment, the service is not set up to provide test results to families in a timely and consistent manner to families,” said Louise Fish, the chief executive of the charity Genetic Alliance UK. “You can’t have cutting-edge science and cut-price services.”
Fish said she was aware of a family who recently waited two years for a result. “That’s an unacceptably long wait if you’ve got a six-month-old and you’re not sure what’s wrong with them,” she said. “These are massive chunks of these tiny children’s lives.”
Some also expressed concern that the Genomics Medicine Service will not have the capacity to process the 300,000 genomes that the government has contracted Illumina to sequence over a five-year period, raising questions about whether the contract represents value for money. A freedom of information request showed that the NHS had sent just under 60,000 sequences to the company by the end of 2022, three years into the five-year contract.
An NHS spokesperson said: “The NHS is the first health system in the world to offer whole-genome sequencing as part of routine clinical care and has sequenced almost 50,000 entire genomes to date, helping transform the lives of thousands of patients and their families by providing a more accurate diagnosis, as well as more effective treatments.
“In October 2022, NHS England launched a rapid whole-genome sequencing service to provide results more quickly, diagnosing thousands of seriously ill children and babies with a likely monogenic [disorder] and providing them with the best treatment possible.”
