Qatari genome programme’s data is helping to develop innovative plans and a path for Arab countries to follow suit, a leading researcher told Gulf Times.
“The Qatari population is an excellent proxy for the wider Arab world given our population structure and representation of several key Arab ancestries within the Qatari society. This makes the Qatari genome programme’s data highly useful to medical genetics across the Arab world,” said, Dr Khalid A Fakhro, chief research officer and director of precision medicine at Sidra Medicine.
“This is yet another way where Qatari leadership -this time in science- is trailblazing a path for Arab countries to follow suit, and lowering the barrier of entry into genomic medicine for almost every other country across the Mena region. The databases, extensive infrastructure and knowledge economy being built around this field in Qatar is at par with the highest global standards, and it is something we should celebrate and use wisely to lead us into a brighter future for healthcare across the Arab world,” he highlighted.
Dr Fakhro noted that a national genome programme is the cornerstone of precision medicine for a given population. “The human genome contains millions of mutations, the vast majority of which are relatively harmless. This becomes important when we study a patient with genetic disease, because reading their genome will inevitably give us thousands of possible variants, and in most cases, only one of these is the bad one,” he continued.
“The question is, how one goes from such a large number of variants down to the one or few responsible for disease. The best way to do this would be to look at controls - that is individuals who don’t have disease, and see what variants overlap with them which are likely harmless and which are unique to the patient, possibly the causative ones,” explained, Dr Fakhro.
According to the researcher, the genome is not only useful as a biomedical reference, but it also is an incredibly attractive tool to study human history.
He pointed out: “Our genomes contain a track record of where we have been, who we share ancestries with, and whether or not there were sweeping events that caused our forefathers’ generations to suddenly expand or contract. This fascination with the past, and our ability to glean deep into this past with the use of genome sequencing won the Nobel Prize for Physiology and Medicine this year.”
Dr Fakro stressed that with millions of mutations harboured in the genome, this comparison undoubtedly requires very large databases of controls to do a proper subtraction of what is shared or benign to identify what is possibly pathogenic or bad.
“Critically, when a sick person is brought to the ICU and you need an answer immediately, you do not have the luxury of time to sequence thousands of controls; instead, genomic medicine relies on pre-existing databases of variation to help with this subtraction. The problem is that until recently, these databases were predominantly made up of Caucasians, with some representation from Asian and African populations,” he told.
“Arabs are traditionally poorly represented in these databases, which poses a problem not only for patients in the Arab world, but also for Arab patients who are seen at hospitals around the world, since their genomes are quite dissimilar from those in the databases. Thus, it is of paramount importance to create these reference datasets and make the data widely available for the scientific and biomedical communities and this is where Qatari genome programme’s data is highly useful to medical genetics across the Arab world,” added Dr Fakhro.
“The Qatari population is an excellent proxy for the wider Arab world given our population structure and representation of several key Arab ancestries within the Qatari society. This makes the Qatari genome programme’s data highly useful to medical genetics across the Arab world,” said, Dr Khalid A Fakhro, chief research officer and director of precision medicine at Sidra Medicine.
“This is yet another way where Qatari leadership -this time in science- is trailblazing a path for Arab countries to follow suit, and lowering the barrier of entry into genomic medicine for almost every other country across the Mena region. The databases, extensive infrastructure and knowledge economy being built around this field in Qatar is at par with the highest global standards, and it is something we should celebrate and use wisely to lead us into a brighter future for healthcare across the Arab world,” he highlighted.
Dr Fakhro noted that a national genome programme is the cornerstone of precision medicine for a given population. “The human genome contains millions of mutations, the vast majority of which are relatively harmless. This becomes important when we study a patient with genetic disease, because reading their genome will inevitably give us thousands of possible variants, and in most cases, only one of these is the bad one,” he continued.
“The question is, how one goes from such a large number of variants down to the one or few responsible for disease. The best way to do this would be to look at controls - that is individuals who don’t have disease, and see what variants overlap with them which are likely harmless and which are unique to the patient, possibly the causative ones,” explained, Dr Fakhro.
According to the researcher, the genome is not only useful as a biomedical reference, but it also is an incredibly attractive tool to study human history.
He pointed out: “Our genomes contain a track record of where we have been, who we share ancestries with, and whether or not there were sweeping events that caused our forefathers’ generations to suddenly expand or contract. This fascination with the past, and our ability to glean deep into this past with the use of genome sequencing won the Nobel Prize for Physiology and Medicine this year.”
Dr Fakro stressed that with millions of mutations harboured in the genome, this comparison undoubtedly requires very large databases of controls to do a proper subtraction of what is shared or benign to identify what is possibly pathogenic or bad.
“Critically, when a sick person is brought to the ICU and you need an answer immediately, you do not have the luxury of time to sequence thousands of controls; instead, genomic medicine relies on pre-existing databases of variation to help with this subtraction. The problem is that until recently, these databases were predominantly made up of Caucasians, with some representation from Asian and African populations,” he told.
“Arabs are traditionally poorly represented in these databases, which poses a problem not only for patients in the Arab world, but also for Arab patients who are seen at hospitals around the world, since their genomes are quite dissimilar from those in the databases. Thus, it is of paramount importance to create these reference datasets and make the data widely available for the scientific and biomedical communities and this is where Qatari genome programme’s data is highly useful to medical genetics across the Arab world,” added Dr Fakhro.
