DNA sequencing services offered by various personal genomics companies can predict inherited risk for over 2500 genetic disorders.
The incidence of genetic disorders in the Middle East is generally higher than the industrialised nations. More than 100 autosomal recessive and 10 autosomal dominant disorders have been identified in the Middle East population with haemoglobinopathies being the most common.
High rate of consanguineous marriages, ethnic diversity, large sized families, lack of awareness about genetic disorders and reluctance to seek prenatal diagnosis and preconception counselling have been cited as factors responsible for increased incidence of genetic diseases in the Middle East.
Advances in digital health technology - especially in the domains of personal genomics, pharmacogenomics and predictive medicine - can identify such genetic disorders and enable people to take appropriate measures.
By sequencing and analysing the genome of an individual it is possible to predict the inherited risk for genetic disorders, genetic carrier status for diseases the individual could pass on to the children and the likely responses to various drug molecules.
The information so obtained through DNA sequencing is very useful in predictive and precision medicine. Predictive medicine refers to employing information generated by personal genomics to decide the drugs and medical approaches suitable for an individual. So far medical genetic tests have been developed for more than 2500 genetic diseases and each year tests for about 200 new genetic disorders are being developed.
Note that the costs of sequencing the full genome of an individual is a costly affair and out of reach for most people. Most of the personal genomics services available in the current market offer sequencing for only a certain number of genetic disorders. For example, Gentle Labs offers one of the most comprehensive tests that cover more than 1700 diseases including colon cancer, breast cancer, heart diseases and aneurysms, etc. Similarly, deCODEme charges approximately $1100 to sequence about a million base pairs and provide risk estimates for nearly 50 diseases.
23andMe, by far the most popular personal genomics services provider, sells mail order kits for single-nucleotide polymorphism genotyping. For just $99, it provides risk estimates for nearly 250 diseases. The genetic information so obtained is also used for ancestry analysis and family tree construction.
Limited DNA sequencing to identify disease risks is increasingly becoming popular in the Middle Eastern countries, especially Kuwait and UAE, but high costs are limiting such tests only to a section of the society.
As the digital health technology matures, DNA sequencing will be faster and cheaper. Full genome sequencing, which presently costs anywhere from $8,000 to $10,000, will be available at costs as low as $100 and this will revolutionise the way we approach genetic disorders.
In the near future, using personal genomics it would be possible to analyse the presence of recessive genes and estimate the inherited risk for autorecessive disorders and help people either avoid a risky conception or take appropriate measures to counter such genetic risks.