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meriam Jelliti
Doha
The newborn screening programme of HMC’s Department of Laboratory Medicine and Pathology at the Clinical Simulation and innovation Center has helped identify more than 30 metabolic diseases (genetic diseases) in addition to endocrine and blood disorders and immune deficiency disorders since its establishment in 2003, according to an expert.
Speaking to Qatar Tribune on the sidelines of an event titled ‘New Frontiers in New Born Screening’ on Monday, Dr Tawfik bin Omran, senior consultant of Metabolic Genetics at HMC said more than 300,000 babies have been screened so far while more than 1,000 have been diagnosed with various diseases.
The event aimed to identify the range of disorders detected by screening labs, recognise the key factors of screening quality and discuss new ideas for future development.
Omran said that Qatar was the only country in the region to start new born screening and the programme has witnessed a quantum leap since its establishment in 2003.
“The idea behind new born screening is to diagnose babies with symptoms of diseases to provide timely treatment for them, as negligence can cause severe physical and mental handicap or even death”, he remarked.
Omran said that the programme has helped save more than 1,000 babies, who are now living healthy lives with normal body growth and mental development.
He said that HMC established its own metabolic screening lab in 2009. He added: ‘Each year we improve the methods of screening, by bringing the latest machines and technology to the lab, providing training to the staff and improving the test itself.”
When asked about the challenges Dr Omran said: “Our biggest challenge is ‘false positive’. It directs us to receiving abnormal results while the baby is completely healthy. That’s why we have developed more tests to minimise ‘false positive’ in our lab. Therefore, when receiving the first positive results, additional tests must be performed to confirm or rule out the disorder. This is called the second tier tests.”
He also said that achieving 100 percent coverage is a big challenge, adding that since it is a national programme, the screenings must be performed in all health care institutions both public and private.
Dr Omran said that more diseases are being integrated in the screening in consistency with the treatment development, especially for genetic disorders.
“Gene therapy for spinal muscular atrophy is an example of the latest therapy that was approved in May, 2019. It is a highly effective therapy if implemented immediately after birth that can achieve excellent results.”
Doha
The newborn screening programme of HMC’s Department of Laboratory Medicine and Pathology at the Clinical Simulation and innovation Center has helped identify more than 30 metabolic diseases (genetic diseases) in addition to endocrine and blood disorders and immune deficiency disorders since its establishment in 2003, according to an expert.
Speaking to Qatar Tribune on the sidelines of an event titled ‘New Frontiers in New Born Screening’ on Monday, Dr Tawfik bin Omran, senior consultant of Metabolic Genetics at HMC said more than 300,000 babies have been screened so far while more than 1,000 have been diagnosed with various diseases.
The event aimed to identify the range of disorders detected by screening labs, recognise the key factors of screening quality and discuss new ideas for future development.
Omran said that Qatar was the only country in the region to start new born screening and the programme has witnessed a quantum leap since its establishment in 2003.
“The idea behind new born screening is to diagnose babies with symptoms of diseases to provide timely treatment for them, as negligence can cause severe physical and mental handicap or even death”, he remarked.
Omran said that the programme has helped save more than 1,000 babies, who are now living healthy lives with normal body growth and mental development.
He said that HMC established its own metabolic screening lab in 2009. He added: ‘Each year we improve the methods of screening, by bringing the latest machines and technology to the lab, providing training to the staff and improving the test itself.”
When asked about the challenges Dr Omran said: “Our biggest challenge is ‘false positive’. It directs us to receiving abnormal results while the baby is completely healthy. That’s why we have developed more tests to minimise ‘false positive’ in our lab. Therefore, when receiving the first positive results, additional tests must be performed to confirm or rule out the disorder. This is called the second tier tests.”
He also said that achieving 100 percent coverage is a big challenge, adding that since it is a national programme, the screenings must be performed in all health care institutions both public and private.
Dr Omran said that more diseases are being integrated in the screening in consistency with the treatment development, especially for genetic disorders.
“Gene therapy for spinal muscular atrophy is an example of the latest therapy that was approved in May, 2019. It is a highly effective therapy if implemented immediately after birth that can achieve excellent results.”
