Doha, 15 March, 2020: An inherited metabolic disorder specialist at Hamad Medical Corporation (HMC) says most children born in Qatar with a rare genetic or metabolic disorder will grow and develop normally, largely due to HMC’s ability to provide early diagnosis and advanced treatment.
According to Dr. Tawfeg Ben-Omran, Senior Consultant, Clinical and Metabolic Genetics at HMC, most babies diagnosed through the Qatar National Expanded Newborn Screening Program are not only surviving but are meeting many of their developmental milestones. He says this is largely attributed to advanced dietary management, and specifically the use of metabolic formulas and medically tailored meals, in addition to medication.
“Nowadays, effective and very advanced treatments available to children with inherited metabolic disorders are assisting in their survival and growth. The availability of metabolic formulas, enzyme-replacement and gene therapies for genetic disorders also greatly contributes to our success in caring for these children,” explains Dr. Ben-Omran.
Dr. Ben-Omran notes that the most common genetic conditions seen in Qatar are inherited metabolic disorders like classical homocystinuria, which has an incidence rate of 1:1500, and inherited neuromuscular disorders like spinal muscular atrophy (SMA).
“Classical homocystinuria is relatively prevalent in Qatar, partly because of consanguineous marriages among the Qatari population, but also because of the rapid population growth in recent years. Advances in the country’s medical infrastructure and healthcare system, increased awareness among healthcare professionals about inherited disorders, and the availability of the expanded metabolic newborn screening program have all contributed to earlier diagnosis and immediate management,” explained Dr. Ben-Omran.
Homocystinuria is an inherited disorder in which the body is unable to properly process certain building blocks of proteins (amino acids). Patients who are undiagnosed or untreated are at risk of cognitive and physical developmental delays, eye problems, bone abnormalities, neurologic and heart problems, blood clots, and strokes. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and underlying genetic cause. The signs and symptoms of homocystinuria typically develop within the first years of life, although some mildly affected individuals may not develop features of the disorder until later in childhood or even adulthood.
To date, over 295,000 babies, including over 96,000 Qatari babies, have been screened under the expanded Qatar National Newborn Screening Program, which was established in 2003. Dr. Ben-Omran says the treatment for inherited metabolic conditions is completely dependent on the disorder or syndrome, its prognosis, and parental wishes. He says treatment plans are tailored to each patient.
While most genetic conditions are not curable, Dr. Ben-Omran says the establishment of prenatal and preimplantation genetic diagnosis services in the country has been an important step in reducing their prevalence. He says the creation of the National Premarital Genetic Screening program, mandatory premarital genetic tests, has also been significant in terms of alerting couples to potential health risks for their future offspring.