First of its kind study: comparing the genome diagnosis to the traditional diagnosis
A research team at King Faisal Specialist Hospital and Research Centre in Riyadh succeeded in identifying 35 new genes related to children’s mental disorders. This came about in a research study considered to be the first of its kind and carried out by comparing genome diagnosis approach to the traditional medical diagnosis to more than 300 Saudi families with one child or more suffering from mental disorder or retardation of acquiring mental skills or autism.
The results of the study were published in the current July issue of Molecular Psychiatry Magazine, a scientific Journal of highest influence among specialist Journals in neuropsychological disorders.
Professor Fowzan Al Kuraya, Senior Clinical scientist and head of developmental genetics laboratory at King Faisal Specialist Hospital and Research Centre in Riyadh explained that although there had been previous studies that showed the accuracy of genome diagnosis approach through genome scan of blood samples, the study which was carried out at King Faisal Specialist Hospital is considered to be the first study that compared this new approach to the traditional medical approach which relied on carrying out radiology, blood and urine tests.
He pointed out that the findings of the study proved the superiority of the genome diagnosis significantly where the traditional diagnosis method didn’t identify the disease except by 16% of all cases and its percentage of error was around 30%. The genome diagnosis approach however, identified the real disease with no error in 74% of cases, the highest diagnosis percentage recorded so far for this type of diseases.
Professor Al Kuraya added that in addition to the study identifying tens of mutations that appeared previously in known diseases genes, the research team was able to identify 35 new genes in one go, a large number added to the discoveries of the Developmental genetics laboratory at King Faisal Specialist Hospital and Research Centre in Riyadh which exceeded 200 genes so far.
The study which received support from King Abdulaziz City for Science and Technology and the Saudi Human Genome Program, he added that the majority of retardation and mental disorder with children in the Kingdom are hereditary diseases and often recessive. This means the risk of frequency of the diseases in the effected families is 25% which is very high percentage that needs to be confronted with alerting families and creating awareness of the available preventive options to them, being in the early diagnosis techniques during pregnancies or diagnosis prior to pregnancies which are available at KFSH&RC.