The existence of human life on this planet is open to challenges, pressures and competition imposed by nature in the form of diseases and calamities. Human species is considered to be supreme and the betterment and improvement of humans has always been one of the top most priority of man himself. In this perspective the evolutionary and hereditary aspects of human biological fitness in response to natural selection is quite interesting. An understanding of human genetics is of significant importance in the prediction, diagnosis, treatment and management of genetic diseases. With the improvements in its understanding various initiatives and measures ranging from laboratory to legislation have enabled humans to live a dignified life, safeguard their genetic future and expect safer and fit generations.
Genes or DNA make a unique blueprint of human life and are the building blocks of traits and characters we transmit to next generations. An error in just one gene or even the alteration of a piece of DNA resulting in genetic diseases can be responsible for severe human mortality and morbidity and have always challenged man’s pursuit to live a healthy life. Some of the important human genetic disorders like Sickle cell disease, Spina bifida, Cystic fibrosis, Duchenne muscular dystrophy, Hemophilia, Down syndrome, Metabolic disorders (albinism, alkaptoneuria, Tay-Sachs disease, Glycogen storage diseases, etc.) are either life threatening or debilitating and are a great challenge for the human survival and fitness. With the increase in the knowledge of human genes and their influence on physical, chemical, biological and behavioral traits, medical science has progressed beyond imagination and has come up with various scientific methods, technologies and procedures to prevent the preponderance of genetic diseases. Genetic diseases are a serious situation and carry a deep social and cultural stigma in our societal setup. Various studies have established that genetic disorders are on rise in Kashmir valley due to isolated and conserved nature of gene pool unique to Kashmiri ethnic population.
Genetic counseling is one such significant branch of medical science that has ensured man a safe future of its generations. It is a process through which knowledge about the genetic aspects of illnesses is shared by trained professionals (genetic counsellor) with those who are at a risk or either having a heritable disorder or are in a position of passing their defect to their unborn offspring. Therefore, a genetic counsellor provides information on the inheritance of geneticillnesses; addresses the concerns of patients suffering from such disorders, pacifies their families and morally or psychologically supports the suffering patients. The basic objective of genetic counselling is therefore, to improve the human future by timely counselling of parents so as to prevent the incidence or occurrence of such genetic defects and abnormalities in future generations that may latter on make their living a social boredom full of miseries. Such children become a liability (although such should not be the case) on their parents in terms of the incurrent cost to treat such defects and the social stigma or problems attached to such conditions. In most of the cases, either such children are abandoned or neglected in the society. Our society is full of such cases and examples and quite recent one is when a parent was noticed burying a live genetically abnormal baby for the reasons known to him. Therefore, genetic counselling and its awareness and utility is quite significant in our society to timely advise the parents about the future outcome of any hereditary diseases on them and their children.
The presence of genetic counselling or genetic service centersor hereditary clinic throughout the world make a significant component of health services and medical care. In India, ICMR is considered to be pioneering agency in this regard and has developed cytogenetic centers in some major cities of the country to perform the role of genetic counselling. Presently the Genetics India as a national advisory committee under the control of ICMR manages the genetic counselling centers and genetic laboratories besides the other centers of genetic counselling associated with various medical institutions and hospitals.
In Kashmir valley, the human genetic research cum counselling centre was established at SKIMS-Srinagar in the year 2003 sponsored financially by J&K State Council for Science and Technology. The establishment was made to deal with public awareness about genetic diseases, their detection and counselling of patients keeping in view the prevalence of common genetic disorders like Down syndrome, Turner syndrome, Klinefelter syndrome, Cystic fibrosis, etc. and their debilitating influence on human life.With the establishment of this facility, the awareness, prevention and treatment options of genetic disorders has improved a lot in the region. At present the Department of Advanced Centre for Human Genetics of SKIMS from year 2012 caters to such needs. Further, the discovery of more and more genetic disorders after the successful mapping of the human genome resulting in identification of target genes, the role of these genetic testing and counselling centers has increased many folds both in scope and importance.
Who can visit a genetic counselling center: Individuals who may have a genetic disorder themselves, individuals who are concerned about their family whose either of the members may have a disorder, couples born with an genetically affected child who wish to plan another pregnancy and try to know any potential risks for second child, couples who are suspicious as some of their relatives or family members are suffering from hereditary disorders and are planning their first pregnancy, parents who wish to understand the future child’s disease susceptibility if borne with a defect, or couples who are planning a pregnancy late in life due to some social or environmental issues and want to assess any potential risks later in life.For all these categories of visitors, the genetic counselling service will be useful and helpful at all stages of counselling for assessing their genetic predisposition.
Therefore, genetic counselling centers or clinics play a major role in health care by employing fully equipped and well trained genetic counsellors capable of using best of the genetic tools and technology to assess the patients for genetic disorders. The routine investigations and tests may include the genetic tests and family history tracking to predict any potential health risks. These tests help in identifying the likelihood of passing certain genetic disorders to the children and if a genetic testing signals of some genetic disease or abnormality, a genetic counselor will advise accordingly to decide the future course of action whether to treat the disease or forbid the couple from having a child. But it is important to know what do a genetic counselor do, and how can they help you and your family? It should not violate the genetic and privacy rights of individuals.Everyone has the right over his or her personal data derived from a genetic test and is entitled to know any information collected about his or her health derived from a particular genetic test.To conclude, genetic counselors may help or assist us in understanding the options of managing the genetic diseases and advise accordingly to adjust to any resulting uncertainties, but we and our family finally have to decide what to do or not to do taking due care of our privacy rights and ethics.
Note: The basic purpose of this article is to create awareness about the need of genetic counselling for human betterment and social harmony. The author does not claim any authenticity of genetic counselling or testing or providing any sort of genetic services.
The writer is an assistant professor of Zoology at the Islamia College of Science and Commerce, Srinagar.
