The newborn screening program has developed around the world due to the advances in genetic science in the last two decades. In 1962, Robert Guthrie identified a simple blood screening procedure for common genetic disorders like Phenylketouria (PKU), and congenital hypothyroidism; and sample transport mechanism that opened the door for mass newborn screening in the developed countries like U.S.A., U. K. and some European countries.

While numerous newborn screening tests suitable for use in newborn screening have developed since the 1960s, the screening programs have relatively developed much slower within the public health systems of various countries. This can be partly attributed to the need for Government involvement to ensure quality and availability of screening services. The conservative spending policies of the Government health agencies is also partly responsible. However, these screening programs around the world are faced with the similar problems like education of professionals, public awareness, finances, logistics, culture and politics.

In the developed countries newborn and mass screening for genetic disorders has evolved with great acceptance because of proven cost-effective studies conducted in the population. This provides a good example of the tremendous achievements in the field of preventive medicine. Advances in the molecular genetic methods have led to the phenomenal speeding up of the Human Genome Project (HGP). Announcement of the ''First draft'' occurred in June 2000, signifying the clinical application of human gene therapy. The remarkable progress in the control of infectious diseases has led to the emergence of genetic and metabolic diseases as important causes of morbidity and mortality.

As a result, early detection, diagnosis and prevention of genetic disorders, most of them associated with developmental disabilities (genetic factor causes 65-70% of developmental disabilities) have gained the priority in government health programs of different nations. Even a few developing Asian countries like Thailand, China, etc. have adapted this strategy.

Till date, the national health priorities of India are different, with emphasis on the control of infectious diseases like tuberculosis, leprosy, malaria, etc. and other health related problems like nutrition, sanitation, water, etc. A few private and public genetic centres or Geneticist working at the individual problem of his interest cannot cope with the needs and demands of more than one billion population of India. Hospital based studies reported by the tertiary centres do not reflect the population based occurrence of genetic disorders.

As such genetic epidemiological data is presently lacking and the western data has been empirically followed here, which we may be different from us. However, genetic biodiversity of the Indian population along with traditional and cultural practices like consanguinity, religious, ethnic and racial variations, and socio-economic factors have now caught the attention of geneticists globally.

Looking at this great scope for basic genetic research, the number of biotechnology-based multinationals have entered in the Indian health market to explore the possibility of gene therapy.

Interestingly on the above background, Government of India has now taken its maiden step towards neonatal screening. A pilot study under the Reproductive & Child Health Scheme (RCH) is undertaken to demonstrate the efficacy of preventive public health screening in high-risk neonates.

Centre for Research in Mental Retardation (CREMERE) has been sanctioned to conduct a project titled "Genetic Health Approach for Early Detection, Diagnosis and Prevention of Developmental Disabilities" supported by the Ministry of Health and Family Welfare, New Delhi. As the title of the project suggests, it involves newborn care concept to prevent developmental disabilities (mental and motor retardation) of genetic causes at the early stage of life. Screening of high-risk neonates for chromosomal and metabolic disorders is undertaken through the present project.

This very early detection, diagnosis, management and prevention program will be first of its kind in India. Genetic counselling and family guidance in the diagnosed cases of genetic disorders and developmental disabilities is carried out under one roof at CREMERE which besides medical and paramedical health services, also has special education, vocational training and rehabilitation facilities.

In India, the integration of genetic technology in primary healthcare systems and general practitioner level is the need of today. Through a newborn screening program, genetic registers can be maintained which in turn will give the Indian epidemiological data to demonstrate the common genetic disorders responsible for developmental disabilities.

The socio-economic burden makes couples in urban India desire 1-2 children free from handicaps, but they are not aware of the medical facilities pertaining to genetic diagnosis, or its use in prevention of the future disability in family. They would readily accept screening tests during pregnancy or in the neonatal period to ensure a normal healthy child.

"Newborn screening is today''s best available preventive public health program and should be applied in the field of health just like immunization". The genetic investigations are very expensive and out of the reach of the common man. This compels the poor patients to go without these investigations, while the affording patients manage them. The poor patients of Government and Municipal hospitals could avail of these genetic services free of charge under this project, which is initiated in Mumbai in 2002.

This high-risk screening of the NICU admitted babies could form a module to be replicated with necessary modifications in other states with linkage to primary health centres in the interior villages and rural areas. Thus this study will provide a preliminary genetic epidemiological data for comparative studies either at the national or international levels. This is referred as "public health genetics" or "community genetic healthcare approach".

- The author is Joint Director, CREMERE, and a Geneticist & Biotechnologist with experience of health and hospital administration. She can be reached at cremere@bom5.vsnl.net.in