Genetic testing specialists are working with a leading Dubai children's hospital to use precision medicine to bring about “a healthy outcome for every birth”.
San Diego-based Illumina, which opened a centre in Dubai in November, believes low-cost genome analysis can be made available for every newborn.
Better diagnosis of disease in babies through to cancer screening in adults can help experts to pinpoint treatments and extend lifespans, according to Susan Tousi, chief commercial officer of Illumina.
In November the company opened the Dubai Illumina Solutions Centre, a facility that features high-tech genetic sequencing equipment and offers training in diagnostic tests to medical employees and researchers.
The centre has teamed up with Al Jalila Children’s Specialty Hospital in Dubai on an initiative involving rapid whole genome sequencing (rWGS), which involves sequencing a person’s complete set of genetic material.
Ms Tousi, who visited the UAE this month to speak on a panel on the future of health care at the Forbes 30/50 Summit in Abu Dhabi, said analysing a newborn’s genome with the company’s technology cost about $200, meaning it “should be available for every newborn”.
Equipment at the centre can sequence 20,000 genomes a year, she added.
Early diagnosis key
“We want to partner, we want to bring the technology and would love to see it adopted in a major way that could impact a healthy outcome for every birth,” she said.
The centre is training people from 20 organisations, such as hospitals and universities, across the Middle East in how to use the technology.
Al Jalila has been co-operating with the centre on using genetic testing for patients.
Dr Ahmad Abu Tayoun, a clinical molecular geneticist and director of the Al Jalila Children’s Genomics Centre, highlighted the hospital’s “Little Falcon” study, where genetic data is collected from 200 ill children and their parents to look at how rWGS could be used for intensive care patients.
The research may indicate how the technology could change treatment, and how sequencing may alter mortality and length of stay.
“Besides providing timely diagnostic results and clinical management and treatment plans, families will receive recurrence risks information [indicating the likelihood that a disorder will occur again in relatives] to prevent future pregnancies with similar outcomes,” Dr Tayoun said.
He added that the opening of the Illumina centre had had “a significant impact on operations”, both in terms of technical support and broader scientific collaborations.
In a paper co-authored by Dr Tayoun that was published in January, it was revealed that almost a quarter of patients who tested positive for a genetic disorder had previously experienced delays in their diagnosis, “most likely due to a lack of access to genomic investigations in this region”.
With one patient, a male who had been living with an immune system deficiency since he was five, the Al Jalila Genomics Centre identified what Dr Tayoun described as a rare “pathogenic variant” in a gene that increased the risk of cancer in later life.
“With this genetic information, the patient received an allogeneic [taken from another person] bone marrow transplant, substituting his mutated immune cells with healthy ones from a matching sibling,” Dr Tayoun said.
“The patient is now symptom free and is completely healthy. In this case, genomic testing not only ended a more than 15-year diagnostic odyssey, but also provided a life-saving treatment.”
In the paper, published in the journal Genome Medicine, the researchers said that early access to genomic diagnosis for patients suspected of having rare disorders “is likely to improve clinical outcomes while driving gene discovery in this genetically underrepresented population”.
Populations in other parts of the world, particularly Europe and North America, have typically been more heavily analysed genetically, but Ms Tousi said that widespread genetic testing in the region could redress the balance.
“In general the … Arab population is way underrepresented in the databases that exist today,” she said. “We need to have representation of ethnicities that researchers can work on, that pharmaceutical companies can develop therapies on.
“The Arab population is an incredibly important one, with 400 million people [who are] very underrepresented in the world’s knowledge base of genetic information.”
Longer and healthier lives
Ms Tousi believes medical advances can make living beyond reality the norm.
“We should be dreaming of a healthy lifespan beyond 100 years,” Ms Tousi said. “Cancer is a disease of the genome, a highly mutated genome that replicates out of control. We have the technology to be doing early cancer screening. Many of our customers are developing technology for early cancer screening.
“Once a cancer is detected, hopefully at a much earlier stage — it’s finding it at stage one instead of stage four — you can have much more effective, targeted treatment. That can be in the form of immunotherapy, targeted chemotherapy or even cancer vaccines.
“Then once treatment is effective, you can monitor minimal residual disease … we think this is going to be game-changing across the spectrum of diseases that plague mankind.”