Genomic resource centre

Case study: India

Additional information (as of January 2006):

1.The Genetics Unit, Department of Paediatrics, AIIMS, New Delhi (WHO Collaborating Centre) is a Government set-up where genetic diagnosis, prenatal diagnosis and counselling are available. www.aiims.edu

2.The Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGI), Department of Medical Genetics offers a Medical Genetics course. www.sgpgi.ac.in/genetics.html

3.The Indian Council of Medical Research in Mumbai is a centre where they primarily deal with Hematological disorders and where they provide prenatal diagnostic services. www.icmr.nic.in

NB: These are but a few centres which offer genetics services in India.

Situation

The structure of India’s healthcare system is multifaceted, consisting of various types of providers practising in different systems of medicine and facilities, and within different ownership structures. Under the Indian Constitution, individual states are given primary authority over most aspects of healthcare, including public health and hospitals. An estimated 80% of public healthcare funding comes from the states. However, the central government formulates comprehensive health policies and plans under the direction of the Ministry of Health and Family Welfare. Items of national importance, including disease control, medical education, the medical profession, and state budgets, are the shared responsibility of the central government and individual states. [1]

The private sector also plays an important role in India’s healthcare delivery. The 1982 National Health Policy (NHP) recognized that limited resources prevented effective implementation of health programs and recommended that the states design processes encouraging private medical practice. [2] Accordingly, the private health sector has expanded significantly; providing 80% of ambulatory care and 60% of inpatient care in 1998. [3]However, in most states, private healthcare facilities are subject to little legal regulation. Concern has only recently been expressed about how this lack of regulation of India’s dominant health sector may be affecting quality and cost of care. [4]

Congenital and hereditary genetic diseases are becoming a significant health burden in India, and hence there is a need for adequate and effective genetic testing and counselling services. In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. [5] Factors contributing to this high prevalence include consanguineous marriages, high birth rate, improved diagnostic facilities, and a lack of expertise in genetic counselling. [6] As of 2003, about 35 to 40 centres offered cytogenetic services, with only a few clinics providing advanced cytogenetic, biochemical, prenatal diagnostic services and counselling. [7] The Sir Ganga Ram Hospital Department of Genetic Medicine in New Delhi is the leading genetics centre in India, offering 61 genetic tests and complete services for diagnosis, management, and counselling of genetic disorders. [8] Samples for testing are received from all over India, as well as from Bangladesh, Pakistan, Sri Lanka, and United Arab Emirates (UAE). [9] However, it is unclear what proportion of other laboratories are able to offer comparable services and how many genetic tests are offered generally across India. Recently, a website has been created (www.geneticsindia.com) that lists genetic laboratories, clinics, and counselling centres, however, as of August 2005 the site was not yet fully functional. [10] Individuals are usually referred for genetic testing by their physicians, although there is about a 10% self-referral by patients. It is not clear to what extent testing is affordable and accessible to the population. [11]

There is no official framework for assessing new genetic tests that become available in India, nor any formal system for approving which tests may be used in a clinical setting. However, the Government of India is heavily involved in genetics research and to some degree in research and development programmes aimed at lessening the burden of genetic diseases, which include the development of new tests. [12] Biomedical research is coordinated by a number of bodies, including the Indian Council of Medical Research (ICMR) , a national body funded by the Ministry of Health and Family Welfare. New diagnostic methods and interventional strategies for genetic conditions that are prevalent in India are developed and validated under the guidance of ICMR through a task force on human genetics and by the Genetic Research Centre (GRC), a permanent national centre under the umbrella of ICMR. [13] The Department of Biotechnology, Department of Science and Technology and University Grants Commission are also known to fund genetics research. [14]

In addition, the GRC and specialized task forces on genetics at ICMR and the Department of Biotechnology carry out a broad range of activities directed towards early detection and intervention in genetic disorders. In doing so, they take some account of the need to protect patient safety. In recent years, for example, the GRC and ICMR task force developed a new diagnostic method for haemoglobinopathies, implemented a pilot screening program for Thalassaemia carrier status, introduced a novel screening program for use in developing countries, and conducted a study on the effectiveness of genetic counselling. Such activities are carried out with the aim of introducing new and better genetic services into India’s healthcare system. [15]


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