Genetic disorders are diseases that are caused by a mutation in the genetic structure of the cell. These mutations can arise from a modification of the nucleic chromatin material, as well as an alteration of one of the coding bases in the DNA structure.
Genetic mutations arise from many different causes and manifest in various ways as well. The genetic mutations can arise at two different levels: at a nucleotide level, or at a chromosomal level. A nucleotide is a building block of DNA- the hereditary, genetic material of any living cell.
Each nucleotide triplet can code for an amino acid, which is, in turn, a building block of proteins. Any insertion or deletion of a nucleotide can lead to a wrong protein structure.
At the chromosomal level, portions of the chromosome- which contains huge portions of the DNA strands- can be altered. Both of these mutations can lead to an alteration of protein structure, which is the physiological and anatomical basis for life.
Genetic mutations can lead to many devastating consequences for those affected by it. Cystic fibrosis, hemophilia, and neurodegenerative diseases like muscular dystrophy are some of the more familiar genetic diseases with terrible implications for the patient.
Genetic diseases are not generally preventable after an individual’s phenotype has been determined. Treatment of certain genetic diseases, such as cystic fibrosis, requires constant medication and therapy. The treatment is also expensive and experimental in most cases and inaccessible in many developing countries.
Genetic counseling is becoming widely popular in the Western, resource-rich countries as a preventative measure for genetic disorders. Genetic counseling involves advising at-risk patients–or those with familial histories of a disease–of the chances of transmitting or developing a disease.
Many genetic disorders have now been classified on the basis of their mode of transmittance, and parents can be advised of how probable it is for their children to develop the disease. If the probability of affected children is high, they can also be advised of alternative options, as well as the severity of disease if a child is affected.
Unfortunately, genetic testing and genetic counseling are facilities that are unavailable in many places where they are needed. For instance, sickle-cell anemia is a disorder where the red blood cells in the body are of a distorted structure. If untreated or undiagnosed, the disease can have fatal complications for the patient.
Genetic research has indicated the high rate of prevalence of the disease in mid-African populations. Similarly, the risk of genetic diseases is high in many Arab countries, due to inter-family marriage practices.
Despite the high genetic frequency of the sickle cell anemia trait in central Africa, little to no counseling resources are available. For example in Nigeria- where the trait occurs in 20-30 percent of the population- there is not one genetic counseling clinic available.
Studies have reported equally low genetic education in many Arab countries. The lack of knowledge and informative resources for genetic disorders inhibit the prevention of such diseases, which in turn can be a considerable strain on resources as well.
In light of these statistics, there is an exigent need for the establishment of genetic counseling clinics. The stance of many scientists is to spur the research in Western countries to ultimately come up with highly efficient and cost-effective solutions.
However, the high instance of genetic disease and genetic susceptibility to diseases is an issue that needs to be addressed in the present.
The prevention of serious diseases in the developing world can only be partially successful if genetic counseling and testing are omitted. Healthy nations are, after all, capable of realizing their potential to the fullest and providing a better life for their citizens.
– Atifah Safi