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Medical genetics in India--what needs to be done?

Genetics in India has come a long way, but it still has even a longer way to go. All that we have been able to achieve so far is some demonstration of its utility, creation of some demand and generation of interest among medical students and trainee doctors (1). Yet a large mass of medical profession, public at large and government remains largely indifferent to the potential of medical genetics for public good (2,3). A major limiting factor could be the high cost of genetic tests and lack of their accessibility. Equally important is the lack of exposure to medical genetics in medical education and trained manpower in the specialty.

Genetics in public health

It needs to be appreciated that strength of genetics lies in prevention of disease and not its cure. It therefore needs to be taken up as public health measure for prevention of physical and mental handicap, cancer and other debilitating disorders rather than just a clinical superspeciality. More than 50 per cent of clinical services of genetic centers abroad are engaged primarily in newborn screening for inborn errors of metabolism (4-6), screening of pregnancies for birth defects and chromosomal disorders (7,8) and screening of adult population for various genetic markers including those for cancer (9), coronary artery disease (10), and, more recently, for drug/xenobiotic metabolizing enzymes. One national program that can transform the scenario of medical genetics in India could be the control of thalassemias and haemoglobinopathies (11-15). Such a decision is to be taken at a political level than at the scientific or professional level. Another national programme could be periconceptional folic acid supplementation for the prevention of neural tube defects which have an occurrence of 5 in 1000 births (16,17). Other applications of genetics are in fields of foetal medicine and cancer (18). These disciplines could well take medical genetics to newer heights.

Reliable and affordable genetic tests

The Achilles heel in medical genetics continues to be the laboratory infrastructure for genetic tests. This needs to cover 3 distinct areas viz, cytogenetics, biochemical genetics and molecular genetics, each requiring specially trained manpower, highly specialized and sophisticated instrumentation and a blend of research and clinical service culture to provide prompt and reliable results of ever increasing number of tests. Sequencing and microarray are now becoming a part of routine clinical genetics laboratory rather than just research tools. There is also a need for strong quality control of genetic tests, requiring accreditation and monitoring of test results (19,20). In addition, there should be a statutory requirement of pre-test and posttest counseling to discuss the need and utility of testing, interpretation of test results and action/s to be taken in response to them (21,22). Both the clinical and laboratory components need to be developed as a composite unit for efficient functioning. It is a new paradigm for the medicine of tomorrow. The testing needs to be covered by health insurance to make access equitable, and by confidentiality/privacy laws to protect individuals and families from discrimination. It needs to be noted that currently medical insurance companies even in the west do not cover all genetic tests and all countries are grappling with the issue of discrimination on basis of inherent genetic make up of the individual.

Networking of clinics and laboratories

The uniqueness of genetic disorders is variety and rarity. In medicine proficiency comes by numbers, whereas most individual genetic disorders are rare having the prevalence of 1:5000-15000 births, or even more. At the same time there are several thousand genetic disorders, affecting all systems of the body. So, how do we achieve proficiency in genetics? If we wish to achieve competency there must be pooling of clinical and laboratory resources--in a collaborative network. Fortunately DNA is a hardy material and can be easily transported. Regarding clinical material, we should make use of the internet. We should evolve standardized clinical databases and be benefited by the clinical expertise wherever it exists. The interest and expertise in genetics must percolate to all specialties and superspecialties. Since the variety is so immense, we must restrict specialized laboratory investigations, area wise, to different laboratories according to their interest and expertise so that greater expertise is developed for wider coverage. There is a need to develop medical genetics in an organized manner as a medical school/hospital activity rather than as research tool.

Education in medical genetics

At a larger level, there is a strong need towards improving the standards of medical education across the country with specific focus on New biology, which is largely an offshoot of advances in genetics, both in undergraduate and postgraduate medical curriculum. The role of genes in influencing the risk of disease, its course and response to therapy, now pervades virtually all branches of medicine. These subjects constitute a major part of articles published in core general medical journals like NEJM, BMJand Lancet, etc. Although the Medical Council of India has incorporated quite a bit of genetics in medical curriculum, but most medical colleges are ill prepared for it (23,24). The Council should seriously consider prescribing establishment of Medical Genetics unit/department as an integral component of medical colleges. To begin with, it can be a part of any of the major clinical departments, viz., Medicine, Paediatrics or Obstetrics and Gynaecology. The MCI should also ensure that evaluation of knowledge of Medical Genetics and its application is incorporated in the final certifying examination. It would not be trite to say that without this knowledge the practitioner of modern medicine of tomorrow would be practically illiterate in its scientific aspects.


(1.) Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Genetic counseling and prenatal diagnosis in India. Indian J Pediatr 2003; 70 : 293-7.

(2.) Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet 2002; 5 : 192-6.

(3.) Balgir RS. Medical genetics in public health administration in India: a handicap of bureaucracy, bias, and corruption. Health Administrator 2005; 17 : 101-9.

(4.) Bodamer OA, Hoffmann GF, Lindner M. Expanded newborn screening in Europe 2007. J Inherit Metab Dis 2007; 30 : 43944.

(5.) Therrell BL, Adams J. Newborn screening in North America. J Inherit Metab Dis 2007; 30 : 447-65.

(6.) Fernhoff PM. Newborn screening for genetic disorders. Pediatr Clin North Am 2009; 56 : 505-13.

(7.) Wortelboer EJ, Koster MP, Stoutenbeek P, Loeber JG, Visser GH, Schielen PC. Fifteen years of triple tests in The Netherlands; the life cycle of a screening test. Prenat Diagn 2008; 28 : 950-5.

(8.) Hoogendoorn M, Evers SM, Schielen PC, van Genugten ML, de Wit GA, Ament AJ. Costs and effects of prenatal screening methods for Down syndrome and neural tube defects. Community Genet 2008; 11 : 359-67.

(9.) Anderson K, Jacobson JS, Heitjan DF, Zivin JG, Hershman D, Neugut AI, et al. Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med 2006; 144 : 397-406.

(10.) van der Net JB, Janssens AC, Sijbrands EJ, Steyerberg EW. Value of genetic profiling for the prediction of coronary heart disease. Am Heart J 2009; 158 : 105-10.

(11.) Tamhankar PM, Agarwal S, Arya V, Kumar R, Gupta UR, Agarwal S. Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India. Prenat Diagn 2009; 29 : 83-8.

(12.) Saxena A, Phadke SR. Feasibility of thalassemia control by extended family screening in Indian context. J Health Popul Nutr 2002; 20 : 31-5.

(13.) Balgir RS. Control and prevention of the genetic load of hemoglobinopathies in India. Natl Med J India 1999; 12 : 2348.

(14.) Ghanei M, Adibi P, Movahedi M, Khami MA, Ghasemi RL, Azarm T, et al. Pre-marriage prevention of thalassemia: report of a 100,000 case experience in Isfahan. Public Health 1997; 111 : 153-6

(15.) Karimi M, Jamalian N, Yarmohammadi H, Askarnejad A, Afrasiabi A, Hashemi A. Premarital screening for betathalassemia in Southern Iran: options for improving the programme. J Med Screen 2007; 14 : 62-6.

(16.) ICMR collaborating Centers & Central Technical Coordination Unit, ICMR, New Delhi. Multicentric study of efficacy of periconceptional folic acid containing vitamin supplementation in prevention of open neural tube defects from India. Indian J Med Res 2000; 112 : 206-11.

(17.) Agarwal SS. Neural tube defect: A preventable congenital malformation. Indian Pediatr 1999; 36 : 643-8.

(18.) Al-Habsi H, Lim JN, Chu CE, Hewison J. Factors influencing the referrals in primary care of asymptomatic patients with a family history of cancer. Genet Med 2008; 10 : 751-7.

(19.) Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep 2009; 58 : 1-37.

(20.) Euro Gentest. Harmonizing genetic testing across Europe. Available from:, accessed on July 18, 2009.

(21.) Gniady JA. Regulating direct-to-consumer genetic testing: protecting the consumer without quashing a medical revolution. Fordham Law Rev 2008; 76 : 2429-75.

(22.) Committee on Genetics, American College of Obstetricians and Gynecologists; Committee on Ethics, American College of Obstetricians and Gynecologists ACOG Committee Opinion No. 409: Direct-to-consumer marketing of genetic testing. Obstet Gynecol 2008; 111 : 1493-4.

(23.) Phadke SR, Agarwal S, Agarwal SS. Medical genetics education in India. Natl Med J India 2002; 15 : 363.

(24.) Ghosh K, Mohanty D. Teaching of medical genetics in the medical colleges of India - Way ahead. Indian J Hum Genet 2002; 8 : 43-4.

S.S. Agarwal

Former Head of the Department of Medical Genetics

Sanjay Gandhi Postgraduate Institute of Medical Sciences

Lucknow 226 014, India
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Author:Agarwal, S.S.
Publication:Indian Journal of Medical Research
Article Type:Editorial
Geographic Code:9INDI
Date:Oct 1, 2009
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