A children’s hospital in Dubai sequenced the genetic material of some of its young patients to diagnose their illnesses and accelerate treatment plans.
The work at Al Jalila Children’s Specialty Hospital is thought to be the first such use of rapid whole genome sequencing (rWGS) in the Middle East, according to officials.
Scientists hope to use the technology more widely and to build up a database that could improve diagnoses for people from the Arab world and other regions traditionally under-represented in genetic studies.
Reported in the journal Genome Medicine, the work involved sequencing the genome, or all of the genetic material, of five newborns and infants at the 200-bed facility, described as the UAE’s only paediatric hospital.
Boosting patient care
One patient was found to have a harmful variant of a gene known as Lipa, which provides instructions for the production of an enzyme. This patient was given enzyme replacement therapy.
Another patient was found to have Pallister-Killian syndrome, a chromosomal disorder characterised by distinct facial features, weak muscle tone and other abnormalities.
Dr Ahmad Abou Tayoun, director of the hospital’s genomics centre, said rWGS provided results within two days, compared with several weeks for some other diagnostic methods.
It has become possible to use whole genome sequencing in a clinical setting because the cost of the sequencing has fallen to less than $1,000 per patient, while the computing power required to interpret the vast amounts of data generated has advanced.
“The concept of next-generation sequencing has been discussed for more than 10 years, but the cost has been prohibitive,” Dr Abou Tayoun said. “The sequencing cost has been coming down to the point where it’s doable.”
Having carried out the feasibility study with five children, the hospital hopes to undertake sequencing with much larger numbers of patients.
“We want to generate evidence that it’s the way to go, it generates answers for Middle East patients, where the genetic burden is high,” Dr Abou Tayoun said. “We want to generate a body of evidence, so we want to expand the study.”
It is acknowledged that the high rates of consanguineous marriages in the UAE, often between cousins, can mean that certain genetic disorders are more prevalent. Yet there is often less access to advanced genetic diagnosis in the region.
Genetic databases are often heavily skewed towards white people, with one of the largest available having about 80 per cent of its data from people of white European descent.
Finding medical solutions
Sequencing of the kind carried out by the hospital could increase the amount of information from people from other racial backgrounds. The latest study involved children from the UAE, Pakistan, Jordan, Kenya and the Philippines.
The work was done using technology provided by a California company, Illumina, whose vice president of scientific research and medical genomics research, Dr Ryan Taft, said obtaining information from a more diverse cohort of patients was “hugely important”.
He said rWGS offered the “greatest number of possible options for finding that rare diagnosis”, which in some cases may involve identifying a single novel genetic mutation or a genetic variant inherited from both parents.
This precise genetic information may help researchers to understand the biological processes that cause the conditions, potentially leading to new treatments.
The technology can be used, Dr Taft said, with newborn babies admitted to intensive-care units, and with infants aged two or three who may be missing developmental milestones or who show unusual physical characteristics.
A prompt diagnosis allows treatment to be started earlier, offering the chance of a better outcome, and saving significant amounts of money because the child will not have to be taken from one specialist to another to determine what condition he or she has.
“We have a very solid evidence base to strongly say the best possible pathway for care for these patients is to ensure they get access to whole genome sequencing,” he said.
He described the use of rWGS in clinics as “really still in its infancy”, with only a modest number of facilities, often in the US, UK or Germany, using the technology.
“It’s not widely adopted at this point. We’re at the beginning of this big adoption curve,” he said.