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Journal ArticleDOI

Perspectives on Translational Genomics and Public Health in India.

01 Jan 2016-Public Health Genomics (S. Karger AG)-Vol. 19, Iss: 2, pp 61-68
TL;DR: The relevance, importance, and translational impediments of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or the authors' preparedness to prevent eventualities.
Abstract: It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged 60 years enhances our preparedness for any eventualities and future burden of the diseases to society. It is also recognized that current public health practices alone cannot bring about the desired outcome. When tackling public health-related issues, such problems must be recognized and state-of-the-art principles and innovations from genomic sciences, information technologies, and medical specialties must be encompassed and embraced. These will enhance strategies for preparedness and provide us with a better understanding of how to identify, manage, and control disease burdens. The ever expanding landscape of genomics research also includes experimental and computational approaches for effectively utilizing DNA sequence information. From these perspectives, the intricacies of Mendelian single gene disorders are the least challenging compared to intricacies of multi-dimensional host factors for infectious diseases or complex disorders such as cancer. The concepts of public health in India are on firm footing; however, integration of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or our preparedness to prevent eventualities. At the same time, translational genomics is gradually paving the way for personalized medicine. Principles of personalized medicine remain to be fully understood and practiced despite the pharmacogenomics-based future of drug development, and treatment has not been as exciting as the advances in genomics we are witnessing today. The relevance, importance, and translational impediments of these advances will be discussed.

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Citations
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A. Manolio, J. Dzau, L. Rehm, M. Roden, S. Ginsburg 
01 Jan 2016
TL;DR: The U.S. National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboration that promote the responsible practice of genomic medicine.
Abstract: Human-genomics programs work together worldwide to speed the translation of genomic medicine to the clinic. Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens. Such individual efforts might benefit from the sharing of approaches and lessons learned in other locales. The U.S. National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboration that promote the responsible practice of genomic medicine. Efforts to coalesce these groups around concrete but compelling signature projects should accelerate the responsible implementation of genomic medicine in efforts to improve clinical care worldwide.

163 citations

Journal ArticleDOI
TL;DR: It is discussed how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India and how genome-based solutions can enable accelerated diagnosis and management of rare diseases.
Abstract: Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India. Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma. In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

25 citations

Journal ArticleDOI
TL;DR: Conurrence of beliefs on benefits and concerns about genetic research suggest they may be common across countries, and consideration of commonalities may be important to increase global participation in genetic research.
Abstract: Background: Genomic research has innumerable benefits. However, if people are unwilling to participate in genomic research, application of knowledge will be limit

4 citations

Journal ArticleDOI
TL;DR: This paper presents a meta-anatomy of the Biosciences Research Laboratory, a state-of-the-art facility for solving the challenge of integrating bioinformatics and nanofiltration into the industrial process.
Abstract: Author(s): Chasapi, Anastasia; Aivaliotis, Michalis; Angelis, Lefteris; Chanalaris, Anastasios; Iliopoulos, Ioannis; Kappas, Ilias; Karapiperis, Christos; Kyrpides, Nikos C; Pafilis, Evangelos; Panteris, Eleftherios; Topalis, Pantelis; Tsiamis, George; Vizirianakis, Ioannis S; Vlassi, Metaxia; Promponas, Vasilis J; Ouzounis, Christos A | Abstract: We review the establishment of computational biology in Greece and Cyprus from its inception to date and issue recommendations for future development. We compare output to other countries of similar geography, economy, and size—based on publication counts recorded in the literature—and predict future growth based on those counts as well as national priority areas. Our analysis may be pertinent to wider national or regional communities with challenges and opportunities emerging from the rapid expansion of the field and related industries. Our recommendations suggest a 2-fold growth margin for the 2 countries, as a realistic expectation for further expansion of the field and the development of a credible roadmap of national priorities, both in terms of research and infrastructure funding.

4 citations


Cites result from "Perspectives on Translational Genom..."

  • ...To compare nations across the developed world, we have used cursory statistics from the Web of Science for 35 countries—namely the European Union 28 (EU-28) group [47], plus 7 countries where activities in the field are quite substantial: Australia, Canada, China, India, Japan, the United States, and Switzerland....

    [...]

  • ...As reported in other cases—and in the context of this collection in PLOS Computational Biology [5–19], Brazil [20], India [21], and elsewhere [22–24], the role of smaller countries in the global scene takes a special dimension, creating both specific responsibilities and significant opportunities....

    [...]

  • ...The world output is listed at 5 PpM, with China (7 PpM) and India (1 PpM) penalized for their large populations....

    [...]

References
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Journal ArticleDOI
24 Apr 2003-Nature
TL;DR: The Human Genome Project (HGP) as mentioned in this paper was the first attempt to obtain a high-quality, comprehensive sequence of the human genome, in this fiftieth anniversary year of the discovery of the double-helical structure of DNA.
Abstract: The completion of a high-quality, comprehensive sequence of the human genome, in this fiftieth anniversary year of the discovery of the double-helical structure of DNA, is a landmark event. The genomic era is now a reality. In contemplating a vision for the future of genomics research,it is appropriate to consider the remarkable path that has brought us here. The rollfold (Figure 1) shows a timeline of landmark accomplishments in genetics and genomics, beginning with Gregor Mendel’s discovery of the laws of heredity and their rediscovery in the early days of the twentieth century.Recognition of DNA as the hereditary material, determination of its structure, elucidation of the genetic code, development of recombinant DNA technologies, and establishment of increasingly automatable methods for DNA sequencing set the stage for the Human Genome Project (HGP) to begin in 1990 (see also www.nature.com/nature/DNA50). Thanks to the vision of the original planners, and the creativity and determination of a legion of talented scientists who decided to make this project their overarching focus, all of the initial objectives of the HGP have now been achieved at least two years ahead of expectation, and a revolution in biological research has begun. The project’s new research strategies and experimental technologies have generated a steady stream of ever-larger and more complex genomic data sets that have poured into public databases and have transformed the study of virtually all life processes. The genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension into biological and biomedical research. Interwoven advances in genetics, comparative genomics, highthroughput biochemistry and bioinformatics

1,704 citations

Journal ArticleDOI
TL;DR: This national study shows that the prevalence of diabetes is high in urban India, and there is a large pool of subjects with impaired glucose tolerance at a high risk of conversion to diabetes.
Abstract: Aims/hypothesis: There has been no reported national survey of diabetes in India in the last three decades, although several regional studies show a rising prevalence of diabetes The aim of this study was to assess the prevalence of diabetes and impaired glucose tolerance in six major cities, covering all the regions of the country

906 citations

Journal ArticleDOI
TL;DR: A framework for the continuum of multidisciplinary translation research that builds on previous characterization efforts in genomics and other areas in health care and prevention is presented and the types of translation research can overlap and provide feedback loops to allow integration of new knowledge.

670 citations

Journal ArticleDOI
TL;DR: The goal of pharmacogenetics is to predict a patient's genetic response to a specific drug as a means of delivering the best possible medical treatment.

565 citations

Journal ArticleDOI
TL;DR: The rising trend in the prevalence of non-insulin-dependent diabetes (NIDDM) in urban Indians is highlighted, and the persistent high prevalence of IGT may also be a predictor of a further increase in NIDDM in the future.
Abstract: A survey conducted in 1988-1989, in the city of Madras, South India, showed that the prevalence of diabetes mellitus in adults was 8.2% and prevalence of impaired glucose tolerance (IGT) was 8.7%. The present survey was another cross-sectional study conducted 5 years later in the same urban area to study the temporal changes in the prevalence of diabetes and IGT. The two sample populations surveyed were similar in age structure and socioeconomic factors. In the second survey in 1994-1995, a total of 2,183 subjects, 1,081 men and 1,102 women, with a mean age of 40 +/- 12 years were tested by an oral glucose tolerance test; fasting and 2-h post-glucose plasma glucose were measured. Anthropometric measurements, details of physical activity and clinical history of diabetes were recorded. Age-standardised prevalence of diabetes had increased to 11.6% from 8.2% in 1989 and IGT was 9.1%, similar to 8.7% in 1989. Multiple regression analysis showed age, waist:hip ratio, body mass index (BMI) and female sex were correlated to diabetes. Family history of diabetes showed interaction with age and BMI. Prevalence of IGT correlated to age, BMI and waist:hip ratio. This study highlights the rising trend in the prevalence of non-insulin-dependent diabetes (NIDDM) in urban Indians. The persistent high prevalence of IGT may also be a predictor of a further increase in NIDDM in the future. No significant differences in the anthropometric data were noted in this compared to the previous study.

393 citations