Ignorance means not enough is being done to prevent babies being born with devastating conditions that will affect their whole lives
Genetic diseases pose risk to all babies
DUBAI // Geneticists want to make it clear that all babies, not only those born to parents who are related, are at risk of birth defects.
"Three per cent of all babies will be born with a congenital malformation or mental retardation. That is the international statistic," said Dr Fatma Bastaki, a consultant paediatrician and clinical geneticist who is the head of the paediatrics department at Al Wasl Hospital in Dubai.
Dr Bastaki said a lack of public awareness on how to prevent hereditary disorders is part of the problem, coupled with "insufficient genetic services and inadequate healthcare prior to and during pregnancy".
Dubai will host the first international genetic metabolic conference starting on Saturday at the InterContinental hotel at Festival City. The prevention of genetic disorders will be examined at the conference, along with ways to discover them early enough to provide successful treatment.
"The services in the UAE for the prevention and control of genetic disorders are still not well developed," said Dr Bastaki, "and the selective termination of a pregnancy when the foetus is affected by severe genetic or congenital disorders is not legally available."
For parents who are related, she said, the chance that they will have a baby born with a genetic disorder rises to 4 per cent, and could reach as high as 6 per cent.
Because of this, related parents should seek genetic counselling.
There is a crucial need for genetic counsellors in the UAE, said Dr Fatma al Jasmi, a metabolic consultant at Tawam Hospital and assistant professor in the department of paediatrics at the UAE University's faculty of medicine and health sciences in Al Ain.
"Myself and Dr Bastaki provide genetic counselling to our patients, but a genetic counsellor can do so much more, in terms of educating families and society and reducing the occurrence of hereditary disorders in a high-risk family," she said.
A genetic counsellor examines the detailed family history of couples with genetic diseases among their relatives, whether or not that couple is related, and comes back with a probability assessment, said Dr al Jasmi.
"This way, patients begin to understand their options and the risks in reproduction," she said. "They can plan, calculate the risk of pregnancy, prevent disorders from occurring; it is a crucial need we have to have in our healthcare system."
The latest studies in diseases such as autism, deafness, mental retardation and short stature will be discussed at the conference, as well as less common genetic disorders.
Dr al Jasmi said that although each disorder on it own is rare, there are thousands of genetic disorders, many of which are not a result of consanguinous marriages, and when combined, the burden on society is staggering.
"For a family with a member who has a genetic disorder, they are all alone and feel they have no one who shares their difficulties," said Dr al Jasmi. Hearing about a disease from a doctor is one thing, but having a support network of other families in similar positions provides a wealth of compassion and an opportunity to share practices and experiences.
"This is perhaps the most important part of the upcoming conference; to create networks between doctors and patients, as well as patients with other patients."
The region's only support groups for patients with rare diseases are in Turkey and Iran.
"Patient support groups are crucial; in the West, these groups drive research and treatment and do fund-raising and really make a difference. We need this here," Dr al Jasmi said.
The last day of the conference, next Monday, coincides with World Rare Disease Day, and will provide parents and children with an opportunity to mingle with rehabilitation specialists and key figures in special education.
Efforts to tackle genetic disease have been varied. In 2006, the UAE introduced mandatory premarital screening, mainly to prevent thalassemia and sickle cell diseases. Last year the expansion of a newborn screening programme that relies on a heel prick blood test from a two-days-old newborn and checks for 16 core disorders was renewed.
"We used to check for four diseases when we started newborn screening in the UAE, and now we are up to 16," Dr al Jasmi said. In the US, newborns are screened for 29 genetic or metabolic disorders.
Gradually, she said, more diseases will be screened among newborns, but stronger awareness is a more important goal.
"These are lifelong diseases, and we need to support the patients and their families, despite carriers of genetic diseases being stigmatised in the Arab world and forced to feel shame for being different," said Dr al Jasmi.
"We need to work on society awareness and acceptance; each one of these patients has a right to live life to the fullest and be provided with the opportunities to meet their maximum potential."
The Centre for Arab Genomic Studies, which was established in 2003 in Dubai by the Sheikh Hamdan bin Rashid Al Maktoum Award for Medical Sciences, released a report stating that Arabs have one of the highest rates of genetic diseases in the world, and after Oman, the UAE has the highest incidences.
So far, more than 119 genetic disorders have been identified among Emiratis and 241 disorders among expatriate residents in the UAE. These figures are likely to rise as research continues.