Presidential Address 2003

HUMAN GENETICS IN INDIA : AN INTROSPECTION

The 28th Annual Meeting of the Indian Society of Human Genetics, being held in this "City of Temples", is of great significance for two reasons. It is for the first time that our Society's meeting is taking place north of Delhi and that too in the most northern state - the Crown State of India - "Jammu and Kashmir". The second reason is that it coincides with the 50th anniversary celebrations of the discovery of double helix structure of DNA - which is being celebrated around the globe. And, in India, Jammu and Kashmir has taken a lead in these celebrations by being host of our Society's annual meeting.

On behalf of the Indian Society of Human Genetics, I express my gratitude to people of this State, especially to the local organizers, the Jammu University and the Govt. of Jammu and Kashmir.

I would also like to particularly welcome and acknowledge those of you who have travelled long distances - not only from all parts of India, but also from overseas, to join us here at this meeting. Being here today, I stand to express my gratitude for the opportunity that was provided to me by the members of the Indian Society of Human Genetics, to serve as the President of our Society for the past two years. It was an honour for me and also a privilege.

Like my last year's address, I do not intend to give either much of sermons or enlist the advancements of human genetics during the past year, but I stand here once again, to do a bit of plain speaking and a bit of introspection, and a bit of thought sharing.

During the past over thirty years that I have spent in the field of human genetics, I have seen numerous developments, ranging from the introduction of chromosomal banding techniques to molecular diagnostics; pre-natal to pre-implantation diagnostics; association of genetic diseases with biochemical markers to SNPs' association with complex diseases and disease resistance; genotyping to the micro-arrays; gene localization to gene therapy; in bioinformatics to silico analysis; cloned genes to functional genomics; stem cell research to cloning; and of course the deciphering of the human genome.

During this period, I have also learnt many lessons from this science and today I would like to share a few of those with my younger colleagues of the Indian Society of Human Genetics.

One of the basic lessons that I would like to share, is that in spite of the mind-boggling discoveries, technological advancements, automations - if you really want to succeed in human genetics, do not forget the basic tools and the basic principles of human genetics. Remember there much more in human genetics than only molecular genetics.

Be down to earth and develop the keenness to observe the variability. There is no substitute or replacement to the precise phenotypic documentation as well as for the precise and detailed family pedigree.

If your family history is not precise or complete, you are not likely to get any significant findings. Your first contact with the patient or the family or the population group is of utmost importance and it should reflect your sincerity, and helpful nature towards the cases, if you wish to have detailed pedigrees and later-on also their samples.

I would like to remind my younger colleagues that there is nothing more precious than your own original ideas and for that you do not require highly sophisticated and automated laboratories. At times, the basic tools consisting of a pen and a sheet of paper may be more valuable than all the subsequent expensive analysis.

I am not downplaying the importance of having well equipped sophisticated laboratories but I just wish to emphasis that the sophisticated equipment in the absence of original ideas and the property documented biological materials are of no great use.

For example, these days we all talk a lot about SNPs, but many of us do not remember that the concept of SNPs was initially proposed by Haldane in 1947 in the context of protein polymorphism. It took another thirty years for a theory to develop in the context of DNA polymorphism based on the discovery of human DNA polymorphism in 1978 and then another two decades to fully appreciate its role in disease susceptibility.

In my last year's address, I had dwelled, in detail, over the various reasons that have been responsible for the non-visibility and non-effectiveness of our Society in influencing the policy decisions of the Government in the field of human genetics. Nothing much has been changed during the past year in this direction, but I hope that the new Governing Council would be able to voice the views of ISHG in a more forceful manner.

During the past year, following the recommendations of the Bye-Laws Committee, some amendments into the Bye-Laws of the Society were incorporated. However, I still feel that our Bye laws need to be further amended to ensure more transparency, more visibility, and to attract wider and varied membership.

The journal of the ISHG, which had been lying dormant for a long time, was revived by the efforts of Dr. Dipika Mohanty and now it needs to be supported by all of us so that it does not go back into hibernation.

The web-site of the Society was launched last year and all the information regarding past and the present activities of our Society are available at that site. It has been quite useful and I hope during the coming years, it will become more interactive.

While the world is debating on the ethical implications on Craig Venter�s declaration that shortly anyone by paying $1000 would be able to have the whole genome scan within 24 hours, we are still far away from even from debating the basic ELSI issues in our Society. The same is true for our stand with respect to Gene patenting, Gene therapy, or Stem cell research or Cloning.

The Indian Society of Human Genetics has continued to ignore the Self-support Groups. It is high time that we recognize the importance of these patients' organizations and support them and involve them in our research activities. They can be extremely helpful in providing us the socially useful goals for our research work.

The Department of Biotechnology has come out with its document on the "Ethical Policies on the Human Genome, Genetic Research and Services". ICMR has also proposed its "Ethical Guidelines for Biomedical Research on Human Subjects", but the Indian Society of Human Genetics has failed either to comment on these guidelines or to come out with its own opinion.

Cloning is amongst the latest hot topics but we as Society still have not thought of going into its various merits and demerits. The same is true for our stand with respect to Gene patenting, Gene therapy, Intellectual property rights or Stem cell research.

We all know that India has over 50 million individuals afflicted with genetic disorders but preciously little is being done to provide the genetic services to these people. The genetic services continue to remain in a dismal stage throughout the country with a number of states being without any such services. Though we have several research institutes doing excellent work in the area of human genetics but unfortunately, the patients fail to get their benefit.

The immense bio-diversity present in various States of India; in the form of endogamous groups, ethnic communities, tribal groups, large informative families all attract lot of collaborators - both nationally as well as internationally. But, unfortunately, most of them are just looking for easy access to the biological material.

Those who have access to such material must realize its value and significance. An institute equipped with most sophisticated equipment would be worthless if it does not have access to the precisely collected samples. I am not against collaborations rather I am a strong proponent of collaborations, both nationally and internationally but I am against exploitation.

The inter-institutional or rather University-Institutional collaborations within the country must be promoted, but it should ensure that some benefits also come to the collaborating state universities. I am specifying the State universities because of late, most of the research funding in India is being cornered by select few central institutions while all the State universities - which form the backbone for providing the scientific manpower or biological resources - are being deprived of the funds.

Under the university and the institutional collaborations, though the students get a better exposure and get quicker results, but usually it leads to non-development of the basic research facilities at the university level and the students�Eif trained, do not return. Unfortunately, for many teachers too, such collaborations provide an easier option and shortcut to publications: Just collect the samples locally and send the students to one of these institutes - instead of struggling to establish the facilities at their own place.

The situation is more or less the same when we go to the international collaborations. There are lot of benefits to the collaborators but it needs to be ensured that it does not lead only to the brain drain or the loss of the genetic material. The international collaboration must be promoted but these should also ensure that there is technology transfer to the Indian universities and institutions.

Each state of India has a lot of uniqueness in the form of human genetic material and each state has a lot to offer to the scientific advancements in human genetics. I feel that we should endeavour that each state of India should develops its own Bio-bank to preserve their genetic diversity of its population for posterity and future research.

Our efforts should ensure that human genetics develops in each state of India and the research and diagnostic facilities do not get confined to only a few institutions in India.

Our diversity is our genetic strength. Do not let it be exploited.

Cancelled

Any institute equipped with most sophisticated and expensive equipment for molecular genetic studies would be worthless if it does not have access to precisely collected samples from tribals, or endogamous groups, or disease associated groups, or from informative families. Those who have access to such material must realize its value and importance. I am not against collaborations - rather I am strong proponent of collaborations - both national and international - but I am against exploitation.

As the emphasis has shifted from monogenic to complex diseases, the importance of India's unique endogamous populations has also significantly increased. Their study is going to be of great importance with the realization that many of the diseases that were earlier labelled as monogenic are not really monogenic in the true Mendelian sense but may be "oligogenic". Furthermore, now it is being increasingly realized that many diseases may arise from mutations that primarily result in a protein with decreased conformational stability, instead of causing either the deficiency or inactivity of a protein.

It is, I believe, unethical if an institute invites Master's students from different States to come with the blood samples from various tribal or endogamous groups from their states and come for a month and go back with results of molecular markers with respect to their samples It sounds very well that a student comes from a place that has non or very marginal facilities and gets exposure o world class facilities. However, you have to look the other side of the coin. It is in a way preventing the development of molecular genetic techniques at the level of states. For example, there is need to know the molecular profile of the various endogamous groups of Jammu and Kashmir e.g., Gujjars, Kasmiri Pandits, Kashmiri Rajputs. There are two possibilities to do it. Collect a hundred samples from each group and send these with or without the students to a lab and have the results. It is the easiest course. But, the cost your state would pay is that these techniques would not develop here. Moreover, if your scientists tomorrow submit a proposal to the funding agencies to investigate the local populations at molecular level, they will not get the grants to develop these facilities here because those very scientist who got the samples from you would be commenting. It is repetition and we at our Institute have already done it or are doing it or can do it with much lesser investment forgetting the funds they got. I am not advocating that scientific collaboration should not be there, but in a more cooperative scientific way.
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