Indian Journal of Human Genetics Medknow Publications on behalf of Indian Society of Human Genetics ISSN: 0971-6866 EISSN: 1998-362x Vol. 9, Num. 1, 2003, pp. 3-4

Indian Journal of Human Genetics, Vol. 9, No. 1, Jan-Jun, 2003, pp. 3-4

Editorial

Is prenatal diagnosis the solution to control some of the genetic disorders in developing countries? YES

Dipika Mohanty

Editor, Indian Journal of Human Genetics

Code Number: hg03001

There are some 5000 inherited diseases which results from mutations involving a single gene also known as monogenic diseases.¹ Examples include inborn errors of metabolism, inherited hemoglobin disorders, cystic fibrosis and hemophilia etc. The global prevalence at birth of all single gene disorders is about 10 per thousand. These can not be cured and they require a continuous lifetime medical care which is very expensive. This burden becomes very heavy in developing countries who have limited resources for health care. The availability of first trimester prenatal diagnosis have enabled us to avoid the birth of such fetuses. Between 1981 and 2000, eleven hundred twelve genes in which mutations reading to monogenic diseases is discovered. This new genetic information and the advances in recombinant DNA technology has lead to the development of reliable, easy and cost-effective tests. These tests are being increasingly used not only in developed countries but also in developing countries like India, Thailand etc. for detecting carriers, for prenatal diagnosis, counseling and population screening. The aim of the prenatal diagnosis is to provide the reassurance to the cupules at risk that may have an unaffected child either by in-utero therapy or by selective termination of pregnancy by early detection of such defects. The individuals concerned about the risk of fetal defect should be counseled prior to conception and prenatal diagnostic tests. Surprisingly, in our experience at IIH, Mumbai to share that the acceptance of the need of termination of pregnancy in some of the diseases like thalassemia and hemophilia is very high cutting across the religion barrier. This is in contrast to some developed countries like Canada in relation to hemophilia where the acceptance of prenatal diagnosis is comparatively less since the total health care expenses is borne by National Health Services of their countries.

Because genetic services requires a high capital investment and good expertise in DNA technology there are fears that this will be impractical proposition for our Health Care System. However, this is to reiterate that in our country, development of centers with expertise in screening, DNA diagnosis, education, counseling and management of these conditions, being increasingly available both in public and private sectors. Hence it will hence be very cost-effective to establish these facilities in the long run. The cost of one prenatal unit diagnostic set up is about 20 lakh rupees (40,000 us dollor) which is equal to the amount necessary for the care of fifteen Thalassemia Major children (average 30kg) annually. The Government should encourage this process and take the lead in control of certain diseases like inherited hemoglobin disorders and Hemophilia, fragile X-syndrome, cystic fibrosis, Down's syndrome etc. Public education programs should also be established with the help of the NGO's to make people aware of the benefits. The help of print and electronic media will also greatly improve the awareness.

In this issue the article on "Alternate strategies for carrier detection and Antenatal diagnosis in Hemophilia in developing countries" an evidence that the expertise in our country do exists although in small pockets.

However, with the support and encouragement from the Government and the International organizations like WHO many more centers can be established to cater to the needs of the people from different parts of India. It is heartening to know that WHO recently has taken initiatives² to start the thalassemia control program in SEARO countries, since the burden of hemoglobinopathies is of very great dimension. Now, is the time to implement it with the help of some of the medical colleges where the expertise can be built in having genetic units who can perform prenatal diagnosis efficiently and effectively to control the above diseases mentioned. This act I am sure will go a long way to help the people of India.

REFERENCES

1. Genomics and World Health: Report of advisory committee on Health Research WHO; 2002.
2. WHO South-East Asia Advisory Committee on Health Research : Report to the Regional Director 2003.

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