Since 2003, over 295,000 babies born in Qatar have been screened for metabolic and endocrine disorders, including rare diseases, as part of the National Newborn Screening Program. Of these, 958 babies have been diagnosed with a rare disorder or genetic condition.
Qatar was the first country in the region to establish a national newborn screening program, which was implemented in December 2003. Dr. Ghassan Mustafa Abdoh, Senior Consultant Neonatologist and Head of the Neonatal Screening Unit at Hamad Medical Corporation’s (HMC) Women’s Wellness and Research Center (WWRC) said under the national program, all babies born in Qatar are screened for metabolic and endocrine diseases and disorders.
“The newborn screening program is free of charge and is considered one of the most successful preventive public healthcare programs in Qatar. At the time of its inception, the screening panel included 32 disorders. Over the years, the panel has been expanded and now includes more than 80 diseases. Recently, screening for blood disorders was included and the plan is to add additional disorders. The incidence of metabolic disorders is 1 in 961 babies and the incidence of endocrine disorders is 1 in 1,767 babies,” notes Dr. Abdoh.
To highlight World Rare Disease Day, observed globally each year on the last day of February, Dr. Tawfeg Ben-Omran, HMC’s Head of Clinical and Metabolic Genetics Division is advising parents to ensure their baby is screened for rare and genetic diseases within 72 hours of birth. He says the routine screening, often called a ‘heel prick’ test, involves taking a few drops of blood from the baby’s heel.
“A blood test performed shortly after birth looks for treatable diseases that usually show no symptoms in the newborn. Early detection of these diseases will prevent serious health problems and can save lives,” explained Dr. Ben-Omran.
“Rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient. Relatively common and non-specific symptoms can hide underlying rare diseases, leading to misdiagnosis,” added Dr. Ben-Omran.
Dr. Ben-Omran says it is important that all newborns are screened for inherited rare diseases. He added that HMC’s Clinical and Metabolic Genetics Division is committed to furthering understanding of the genetic components of population-specific diseases, particularly those most likely to occur among people who trace their ancestry to Qatar and the surrounding region.
“Genetic disorders that are more common in Qatar include classical homocystinuria and inherited cobalamin disorders. It is important to raise awareness about the role of newborn screening in the early diagnosis and prompt treatment of these conditions and other rare diseases. Building awareness of these diseases is so important because one in 20 people will live with a rare disease at some point in their life. Rare diseases are often chronic, progressive, degenerative, and life-threatening. However, if diagnosed and treated early, babies born with a rare disease can often lead a normal life,” said Dr. Ben-Omran.
Earlier this month, HMC announced plans to partner with Heidelberg University Hospital on the establishment of a National Center for Rare Disease in Qatar. This Center will be a joint collaboration with the Heidelberg University Hospital and will see both organizations combine their knowledge and expertise.