Dr B Srinadh
In our country 7% of newborns are born with serious birth defects, we have 7% of neonatal deaths and 20% of infant mortalities which are all mainly due to severe genetic defects. These genetic disorders and birth defects have an adverse socioeconomic impact on individual families and on sustainable development of the nation at large. Among the affected group, the worst sufferers are people from below poverty line in developing countries.
Though World Health Organization (WHO) repeatedly cautioned and issued guidelines for developing countries for control of genetic disorders and birth defects, priority was not given due to more prevalence of communicable diseases. As a result it is leading to cumulative increase in the incidence of genetic disorders. The best quality of Reproductive Child Health (RCH) care is the fundamental and most essential service for the growth of any country. Moreover, we all believe in that “Today’s child is tomorrow’s citizen”.
Despite of extending yeomen services and excellent facilities in the Health Sector by Govt. Programs in Jammu & Kashmir, without providing the basic genetic services the goals of RCH cannot be accomplished and the target of decreasing infant mortality to lowest levels cannot be achieved. Though 20% of global burden of genetic disorders are from India, the reproductive genetic services and emphasis on control of genetic disorders and birth defects are lacking badly in many states of our country. Factors like consanguinity, malnutrition, infections, environmental pollution and genetic abnormalities are main reasons for these birth defects and genetic disorders and majority of affected people belong to below poverty line.
Child health in India is badly suffering due to genetic diseases and birth defects as this is the second most common cause of infant and childhood mortality and occurs with a Prevalence of 25-60 per 1000 births. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome, and may cause early death or life-long chronic morbidity. And in large percentage of children with Developmental delay and Mental Retardation, genetic causes are mainly responsible for it.
Maternal health is also suffering very badly in our country due to Genetic diseases and birth defects, because they are prime causes and presenting as obstetric catastrophe like repeated abortions , intrauterine fetal deaths. Still births and Perinatal deaths and repeated episodes of these catastrophes will lead to maternal morbidity and mortality and Socio-psychological sufferings due to infertility.
These affected families are desperately looking for institutions which are providing the services of diagnosis, management and prediction of recurrence and guidance on prevention. Clinical genetics and fetal medicine services have significant role in providing solution to affected families to a large extent with significant cost benefit ratio. Research work being carried out in the field of Human Genetics has substantial societal relevance.
The actual worst victims are above mentioned groups and they require the best quality clinical genetics and fetal medicine services. Unfortunately these services are lacking in the Jammu region. I was Graduate and Post Graduate from Government Medical College Jammu. Practically I had experienced the suffering of these affected families with these diseases and defects.
In recent years there was a rapid advancement of super speciality and sub speciality services in private sectors and people who can afford the expensive paid services are availing them. But unfortunately the services provided by private sector are beyond the reach for major section of our population as they belong to unaffordable below poverty line group. This is high time for J&K government to take up initiative for establishing this highly essential sub speciality for the benefit of the patients.
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, took the lead role in organising genetic services as per the world health organisation guidelines. As initial step an orientation program on fetal medicine and clinical genetics for prevention of birth defects and genetic disorders was successfully conducted and in this program all PHC medical officers working in Telangana state were trained. In a phase wise manner all the medical and paramedical manpower working both in government and in private sector will be provided with minimal basic orientation strategies for prevention on birth defects and genetic diseases.
We are keen to give technical support to various Govt. institutions in our country for establishing fetal medicine and clinical genetics divisions, also looking forward to conduct workshops with hands – on – training and also online support latter on.
As initial step in this project we are keen to conduct a workshop with hands – on – training for all the radiologists and gynaecologists in Jammu region.
(The author is Consultant in Fetal Medicine, Institute of Genetics & Hospital for Genetic Diseases, Osmania University)
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