A mandatory premarital screening programme in Dubai found 8 per cent of Emirati couples were at risk of having a child with genetic disease, underlining the strategy's crucial role in advancing preventive health care.
The results highlight how the tests, compulsory for all Emirati couples across the country since the start of last year, are key to efforts to potentially reduce the number of children born with serious diseases and help citizens make informed choices over starting families, including exploring IVF treatments.
Scientists say screening offers a “transformative” ability to cut the risks of conditions linked to, for example, intellectual disability, mobility problems or blood disorders.
A study by scientists at Dubai Health – part of the initiative led by the Ministry of Health and Prevention – found among the first 1,000 couples tested in the emirate, in 70 cases the man and the woman shared a potentially harmful genetic variant.
With such couples, a child who inherits the harmful variant from both parents is at additional risk of developing a disease associated with that gene.
Long-term health strategy
Scientists looked at 782 genes in the screening programme in Dubai and a study analysing the results has been published in Nature Medicine.
Dr Ahmad Tayoun, of Mohammed Bin Rashid University of Medicine and Health Sciences, said the genes analysed are associated with “disorders which are severe enough to warrant prevention”.
The illnesses are typically recessive, meaning a person with one copy of the “faulty” gene variant does not have the condition. When each parent has a single copy of the harmful variant, there is a 25 per cent chance a child will inherit it from both parents and so will be at risk of disease.
“One of the main aims of premarital genomic screening is to identify couples who carry the same recessive disease,” Dr Tayoun said. “That information can then be used to guide preventive options, particularly in-vitro fertilisation with pre-implantation genetic testing, which can greatly reduce disease.”
The new study is the first to analyse premarital genomic screening in the UAE, Dr Tayoun said, and is thought to be the only one undertaken to look at the effects of a citywide mandatory programme.
In Dubai, about 1,000 Emirati couples marry each year, according to figures published by Dubai Health: in 2021 the figure was 1,137, in 2022 it was 952 and in 2023 the number was 1,104.
The Department of Health Abu Dhabi did not respond to a request for details of how many couples had been screened in the emirate, where premarital genetic screening is offered at 22 health centres in Abu Dhabi, Al Dhafra and Al Ain.
The proportion of couples in the new study at risk of having a child with a genetic disorder is “broadly in line with our expectations”, Dr Tayoun said.
The Mackenzie Mission study, a major research project in Australia, looked at thousands of couples and found between 1.9 per cent and 3.9 per cent were at increased risk of having a child with at least one of around 750 severe childhood-onset genetic condition tested for.
The risk of inheriting a gene mutation increases in the case of consanguineous marriages, cases in which second cousins, or closer, marry each other.
The study reported that of the 782 genes looked for, 558 were ones that require screening, under the Ministry of Health and Prevention strategies, because they are linked to effects such as a shorter lifespan, impaired mobility, intellectual disability or sensory impairments.
Others were variants that Dubai’s own genetic database identified as being harmful in the Emirati population.
Looking to the future
“Given the evolving genetic evidence, we acknowledge that this gene-selection process will be dynamic, requiring ongoing review and refinement as we continue to better understand the genetic landscape of rare diseases in the UAE,” the researchers wrote.
“The implementation of comprehensive premarital genetic screening programmes offers a transformative opportunity to reduce the burden of recessive disorders in populations with high rates of consanguinity.”
About 40 per cent of the 79 at-risk couples had genetic variants associated with blood disorders, namely thalassaemia or sickle-cell disease, which can cause conditions such as anaemia and severe pain.
Couples who share harmful genetic variants were referred to genetic counsellors, who could then outline the options available.
Of the 79 couples, 16 separated, while 63 went ahead with marriage with the option of entering the government’s Al Amal initiative, which funds couples to have up to three children through IVF, with embryos genetically screened before implantation.
Dr Tayoun said care was taken to ensure screening looked only for those genetic variants with significant impact.
“The gene/disease screening list is continuously being refined and optimised to ensure that we are screening for diseases where prevention is necessary,” he said.
