Presidential Address 2002
Genomics, Diagnostics and Society: The Indian Scenario
Presidential Address delivered by Prof Dr Jai Rup Singh during the 27th Annual meeting of the Indian Society of Human Genetics.
Shri Krishna
Murthy, Chief Secretary, Govt. of Kerala, Dr. R.V. Thampan, Director,
Rajiv Gandhi Centre for Biotechnology (RGCBT); Dr. M.R. Das, Former
Director, RGCBT; Dr. V.R. Rao, Secretary, Indian Society of Human
Genetics (ISHG), Fellow Geneticists, Members of the ISHG, Guests,
Colleagues, Old friends and New friends:
I am greatly honoured to be here today on the Valentine's Day in this lovely city of Thiruvananthapuram and to express my gratitude for the opportunity provided to me to serve as the President of our Society during the past one year.
Time for Introspection
A presidential address is a difficult task. For today's address, there were two alternatives available for me. One was of looking at the progress that the science of human genetics has made globally. Starting from the time when we were just looking at the gross phenotypic variations; then we matured to study the transmission of this variability and graduated to the deciphering of the DNA intricacies; and how after the success of the Human Genome Project, the search for variations shifted from the RFLPs to SNPs; and the way this transition from gene to genome to proteome and now to metabolone is taking place to finally ascertain as to how the thousands of genes work in concert inside the human cell.
The other alternative available to me was that of introspection. To stop looking at what others in the world have achieved but to review what we have done and where we are? What are our strengths and weaknesses? Where we stand? Where we are faltering and what needs to be done here in India and also by our Indian Society of Human Genetics for the society as such of India. I have chosen the path of introspection.
Objectives of ISHG
The major aims and objectives of
the ISHG as enshrined in its constitution are:
i) To promote and advance the cause and knowledge of human genetics
ii) To promote the exchange and distribution of information and ideas
related to human genetics
iii) To promote forum for discussions on human genetics and related
subjects and
iv) To promote researches on the various aspects of human genetics
including its applications.
Whether we have been successful in achieving even our first aim can be ascertained through one strong indicator i.e., the evaluation of the provision of genetic services to the people. How many centres are there that provide human genetics services? How many people a centre caters to? What proportion of our population has any access to such services? How well equipped these centres are? And what needs to be done or possibly can be done to promote further the cause of human genetics in India?
Human Genetic Services in India
As per the conservative estimates, there are 50 million individuals affected with genetic diseases in India. If we include the disorders that have genetic predisposition, the number of individuals is extremely large. For example there are more than 7 million people affected with coronary artery disease, about 30 million with hypertension, and 26 million with mental illness. If we look into the carrier status of various anaemias, there are more than 26 million carriers for beta thalassemia only. In India every year 130,000 chromosomally abnormal and 600,000 congenitally malformed children are being added.
Let us see how well equipped we are to handle this situation. In order to ascertain the availability of human genetics services in India, I wrote to all the members of the ISHG and those who agreed to participate in the survey were sent the detailed questionnaire. It is this data that was collected from the members that I am going to present and it is quite revealing. In India, any types of genetic testing facilities are available in only 16 states out of 28. The genetic services are being offered at only 46 places only. There are 36 places offering cytogenetic tests, 21 molecular diagnosis, 27 biochemical, 38 genetic counselling and 15 places offer prenatal diagnosis.
These 46 centres are spread out in 21 cities of India. Facilities for cytogenetic investigations are available at 36 centres in 17 cities spread in 13 states of India. Majority of these are doing lymphocyte culturing only. The facilities of molecular diagnosis are available at 21 centres in 15 cities across 11 states of India. Majority of these are undertaking investigations only for beta thalassemia. The services for the identification of biochemical disorders are available in 16 cities spread in 12 states, while the genetic counselling services are available in 20 cities belonging to 15 states. The management of genetic disorders is undertaken at 22 centres and majority of them are providing guidance only.
A look into the population size, which each centre is supposed to cater, is also very revealing. In Andhra Pradesh, it is 15.4 million people per centre while in Karnataka there is one centre per 52.7 million people. The situation is even worse in UP, where one centre is expected to meet the needs of 83 million. The situation is much better in Delhi where per centre, it is only 3.6 million people.
To summarise the availability of genetic services in India, we have 46 centres catering to population of over a billion people that means on average 22.3 million people per centre - the range being 3.6 to 83 million.
Out of these 46 centres, only a few are being supported through some major grant by the Govt. and most of the centres are not fully equipped. There is no quality monitoring and there are few private labs that are flourishing in the absence of any proper quality control.
Let’s compare our genetic services with the developed world. Taking Germany as an example with respect to molecular diagnostics. It has population of 82 million and has 100 centres spread in 55 cities that are providing services in molecular diagnostics. This comes to 0.8 million people per centre. If we, in India, have to achieve the same level of availability of genetic services, then we should have 842 centres instead of the presently 21 only.
The complete information about
the human genetic services in India would shortly be made available on
the web. If we have to improve genetic services, we have to put in
concerted efforts in this direction. These need to include precise
disease identification, training, education and also monitoring. This
change can come only if there is education and awareness among the
masses and also amongst the physicians. What I feel is that we have to
tackle the program at three levels, primary, secondary and tertiary
level. At primary level, we need to educate the masses about genetic
diseases by holding educative camps, preparing audio-video tapes, etc.,
and assuring their wider distribution. At the secondary level, we need
to involve the students at school and college level, with special
emphasis on medical institutions and providing training to physicians,
nurses and supporting staff. At the tertiary level, we should hold
goal-oriented seminars, workshops for the physicians and orientation
courses for the nurses and the other staff. Another crucial aspect is
the involvement of self-support groups.
At the same time, we need to strengthen our diagnostic facilities that
already exist and we need to establish new laboratories. The very
crucial aspect remains is that of quality control and the feedback from
the physicians as well as from the patients and the monitoring would
have to be introduced at various levels.
Suggestions from the members of ISHG
After taking over as the President of the Society, I wrote letters to all members of the ISHG inviting their suggestions for the improvement of ISHG so that these could be put forward during the annual meeting of the Society. Many members were kind enough to respond with extremely good and valuable suggestions. I am much obliged to all of them. Due to their large number, it would not be possible to name each contributor or each one of their suggestions, but I have tried to group these together. These include:
1. Human Genetic Survey of India. The ISHG and its members should persuade the Government of India for the constitution of Human Genetic Survey of India on the pattern of Anthropological Survey of India. If we are able to persuade the Government to establish the Human Genetic Survey of India, it is likely to create a lot of job opportunities for the youngsters working in the field of human genetics and it would also endeavour to safeguard the genetic pool of India.
2. ISHG representative in the executive committees of DBT, DST, ICMR, etc. Many members suggested that there should be a representative of ISHG on all those decision making bodies of the Govt. agencies and department that decide about the research directions or funding in the areas of human genetics in India. In fact I had written to the Union Minister of Human Resource Development about the inclusion of an ISHG representative on the various such bodies. The Minister forwarded this letter to one of the departments where it ultimately was filed. I came to know that there was not very favourable response from the existing members of the committee of this funding agency. Obviously, many do not like the democratisation at that level.
3. Development and promotion of regional and zonal chapters of ISHG: A number of friends wrote that the regional and zonal chapters need to be developed and promoted. The general body of our Society has already taken a decision to promote the chapters of the Society and it is now a part of our byelaws. However, I am not aware of any such chapters that have already been constituted or have become fully functional at this moment. But I do hope that since this information is now available at the web site, those who are desirous would be able to form such regional and zonal chapters and the activities of these zonal chapters would be shared with all the members of the Society.
4. Regular publication of the Journal of the Society: Many members pointed out that the publication of the Society's journal had been erratic and there is need for the regular publication of the Journal of the Indian Society of Human Genetics. The quality of a Society's journal reflects the health of the Society. All of us know that a lot remains to be done to uplift the Society's journal. I am happy to share with you that Dr. Deepika Mohanty has kindly agreed to take the responsibility of uplifting our Society's journal and I hope all of you would extend her full co-operation.
5. Positions of geneticists in medical institutions: At the moment, there are practically no positions available for human geneticists in medical institutions across the country. Many members suggested that the Society should put in efforts in this direction by bringing in awareness so that such positions are gradually created.
6. Training of medical students in human genetics: According to opinion of many members, the course curricula of MBBS do not provide the requisite exposure of human genetics to the students. Although human genetics is not a separate subject at the MBBS or MD level, yet the course contents of many basic and clinical subjects do contain a good part of human genetics. Unfortunately, not enough stress is given on this important portion. It is hoped that the Medical Council of India would realise the importance of genetics in the medical sciences and give proper due emphasis to human genetics.
Why ISHG has a low impact factor?
Why we at ISHG have not been able to make a significant impact as a Society? There are several reasons for it. To name a few: the Society does not have a full time professional geneticists on its rolls; the time each one of us has been able to devote to uplift the Society had been inadequate; the Society has no full time technical staff; it has no full time administrative staff; it has no permanent office; it does not have a website; and it also does not have a strong financial base. I do hope that in the coming years we would be able to overcome these lacunae and be on strong footings.
What we have to do?
For an academic Society to
survive, there are a few pre-requisites. These include good annual
meeting, good journal, financial stability, active interaction of the
members, pro-active status, visibility and transparency. As far our
society is concerned, we need to attract broader audience, plan
strategies to open our doors, integrate with self-support groups, and
integrate with pharmaceutical and biotech industries as well as with
genomics and diagnostic companies. We also need to integrate with the
emerging technologies and with the geneticists working in related fields
or on other species.
I feel as the first step we need to endeavour to enhance our visibility.
Be open-minded and broaden our membership. Become action oriented and
forward looking. We need to have policy debates and regularly update our
byelaws. There is a need to bridge the gulf between the universities and
the industries and ISHG can possibly play a pivotal role in it. The
Society needs to constitute several committees which could be
responsible for industry liaison, public education, lobbying, promotion
of self-support groups, advocacy, certification of guidelines for
genetic counsellors and diagnostic laboratories, formulation and
revision of course curriculum in human genetics, reporting of genetic
investigation, and for ethical guidelines.
Web site of ISHG
In order to promote the aims and objectives of the ISHG and to keep abreast with the changing time, I am happy to inform you that the official web site of our Society (http://www.ISHG.org) has been created and it is being formally launched from today. It is hoped that this site would provide a platform for the members to interact quickly and regularly with each other so as to express their views on the current issues of national and international importance. The web site gives all the information about the ISHG and its activities. It also lists the names and addresses of all the members. It has several lacunae; for example, the address of many of you may not be the current one, the addresses included in the web site are those that were available with the office of the ISHG. I would request all of you to visit the site and send in your suggestions. If there is any change in your address then it may please be communicated to the Secretary of the Society.
It is proposed to provide at this web site a platform for discussion of current problems or particular case reports, a forum for finding the appropriate referral persons or diagnostic centres and also to promote collaborations. This site would be providing hyperlinks to other relevant sites in the field of human genetics. It is also hoped that this web site, when it becomes fully functional, would provide information about the recent discoveries and advancements in the field of human genetics.
I thank all the local organisers for the efforts made by them to organise the 27th Annual Meeting of our Society and wish you all an academically very fruitful time here in Thiruvananthapuram.
