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INTENTION AND SCOPE

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

This impressive compilation is the first of its kind in terms of scope and breadth. Edited by Prof. Dhavendra Kumar and published as part of the Oxford Monographs on Medical Genetics series, it provides a much needed overview of the state of genomics in the so called “developing world.” Dr. Kumar, who has dedicated this work “to millions of people in the developing world who live with poverty, hunger and disease,” has certainly manifested a valiant effort to serve this demographic, which constitutes the majority of the world population (82%, 2009 UN estimates). Genomics is a relatively young branch of science that is currently undergoing rapid advance and transformation. From being a cutting edge science affordable only to high income countries and amenable to use by a few highly trained individuals, the rapid fall in cost of several genomics technologies (notably sequencing) coupled to an increase in training is making genomics services increasingly available to low and middle income (LMIC) countries. This has led to initiatives incorporating genomics and genetics services in both health and populations studies during the past decade in many LMIC countries. However, current publication trends tend to disfavor dissemination of scientific and medical epidemiological data from LMIC countries at most top ranked journals. Dr. Kumar's work steps in as a focused platform to highlight important reports from LMIC countries in this regard, not just in research but also in documenting trends in implementation of genomics, especially in the health care sector. Having said that, the text also collects several relevant studies from LMIC countries that have been published in world class journals, thereby it succeeds in portraying a truly rounded picture.

STRUCTURE AND CONTRIBUTORS

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

The book is organized as two main parts; part 1 gives a general overview of genomics and medicine in health, but with a distinct developing world flavor. Part 2 is a collection of chapters that discuss more specific genomics and health issues that are organized according to the following regions, Africa, Arab and Middle East, Asia-Pacific, Chinese Subcontinent, Indian Subcontinent, Latin America and the Caribbean and finally Russia, central Asia and Europe. This organization scheme is a definite strength as it aptly indicates the rich compendium of information contained therein. The reader is at once drawn to the chapter titles under each global region and the number of these as well as the breadth of information covered by them gives an initial taste of the current regional situation. However, what is also apparent is that there is an over-representation from some countries in a given region over others, which may be an indicator of the country-wise distribution and availability of genomics services rather than non-inclusion in this text. For example, of the 18 chapters included under “Africa,” 1/3rd are specifically focused on South Africa, and apart from a single other chapter on Tunisia (chapter “Genetic neurological diseases in Tunisia”), the others discuss areas that encompass more than one, often several African countries. If this is indeed the case, it is surprising that there are relatively few chapters from the Chinese subcontinent (6) compared to the Indian subcontinent (26), as one would expect more genomics applications currently in China. The Indian subcontinent includes several more countries than the Chinese subcontinent and this may be a reason to explain the imbalance, or conversely the over-representation of information from India may indeed indicate the recent move by the Indian government to focus on science and technology research (http://articles.timesofindia.indiatimes.com/2012-08-11/india/33152919_1_private-sector-health-sector-12th-plan). While some comment on these issues by the editor would have been useful in the foreword, the massive effort in collating and organizing all this information is nothing but praise worthy. The availability of selected color figures as a series of color plates located in the middle of the book is welcome as in some cases the color is essential to understand the figure (Figs. 4 and 5, population admixture principal component analysis plots), though the placement of them ex situ is cumbersome. The index is a very useful addition that feels adequate for this edition, however not all topics are completely referenced. The list of contributors is impressive, truly a snapshot of experts in genomics in the developing world. While the designation of each contributor is listed at the beginning of the book, a little more information explaining the role of the contributor in that country, especially if given as a footnote in the chapter itself, would be very useful to situate the reader.

THEMES

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

Two major themes are found in the book, both of them fascinating due to their LMIC perspective. They are; genomics in individual health (including ethical, legal, and social aspects as well as clinical), and population genetics (including ancestry, ethnic genetic make-up, and population admixture, as well as genetic epidemiology). The book contains a number of chapters that address specific areas of these foci singly or together. It raises various discussion points, some of which I will elaborate on below.

A significant number of chapters talk to the high level of consanguinity generally found in LMIC countries and then specifically discuss several medical genetics issues that arise due to this. Indeed, the reports on the extent of consanguinity to be found in the developing world are particularly noteworthy. The numbers presented are eye-openers that serve to establish in the reader's mind the high degree of prevalence for consanguinity in non-industrialized nations (vide chapter 80). This is important information as it directs a rethink of several standards (which are for the most part developed by industrialized nations) in clinical genetic practice as well as genomic study design and analyses when applying them to the developing world. The same is true for developed nations where there are large pockets of immigrant populations from LMIC countries. In this regard, noteworthy is the discussion of the results of several surveys assessing families understanding of the health implications of inter-marriage (vide chapters 121, 122, and 123) carried out among migrant communities in the UK in which there is a high degree of consanguinity. Approaches that must be incorporated in genetic counseling are discussed and a new sensitivity to the reasons for this wide-spread practice rather than an across the board condemnation are encouraged. Raising awareness of this issue and educating about the reasons behind the practice are especially a useful contribution with wide reaching impact.

A notable focus in the book, one that is closely tied to consanguinity (as consanguinity is widely practiced in Muslim countries), is the discussion of Muslim perspectives to modern genetic and genomic methods such as, for example, population genetic screening, pre-implantation genetic diagnosis, and therapeutic abortion. Following on her impactful publication a few years ago [Al Aqeel, 2007] Aida Aqeel provides a well-researched and detailed chapter on Muslim views on these issues (chapter 9). However others too, in particular contributors in countries with significant Muslim populations, comment on these areas. Most North African states as well as many in the Sub-Sahara region of Africa, several Central Asian, and South East Asian nations as well as many countries in South Asia have majority Muslim populations. India and China (which together include about 35% of the world population), both include large Muslim minorities which numerically dwarf populations of other whole countries. A recent poll by the Pew Research institute corroborates the indication that a significant proportion of the developing world follows some degree of Islamic belief or practice (http://www.pewforum.org/Muslim/the-worlds-muslims-unity-and-diversity-executive-summary.aspx). Given this, the focus on addressing genetics and genomics from the Muslim perspective is relevant. The frank discussion and depth of pertinent information shared in this regard is a particular strength of the book. However one encounters conflicting statements on Islamic religo-legal exegeses (loosely termed “shariah practices”) that influence key genetic questions presented by different contributors; for example there is a difference of opinion on up to what stage of pregnancy it is Islamically permissible to abort (a complex issue with a sophisticated “shariah” handling) indicated in different chapters. A greater degree of academic rigour is called for when discussing such topics with adequate reference to religious scholarly opinions mandated or at least encouraged by the contributors. In this situation a poorly informed opinion may be as damaging as a non-informed opinion. This observation extends to other faith systems as well; for example in chapter 8, there is a discussion on the influence of religion on social practice in South Asia. This topic is an important one for the clinician encountering these populations, and its inclusion is lauded, however the discussion contains many generalizations without reference, a situation that could be quite misleading.

Another interesting area of information presented relates to nutrition practices in the developing world and traditional forms of medicine (which include diet as a significant medicinal component of health). In particular, reports on regional attempts to study traditional medical systems from a genomics angle, such as the “Ayurgenomics” (chapter 76) which uses genomics to understand Ayurvedic medicine, as well as similar efforts to better characterize Traditional Chinese medicinal practices, such as studies to understand “herb–drug” interactions that could possibly have adverse effects, are important. Information in these chapters will be useful in the developed world as well, which has witnessed a surge in popularity of ancient medical and nutritional systems in the past decade.

The second major theme-population genetics, is covered by many chapters offering a wealth of information. The Human Variome Project is discussed with specific reference to LMIC countries. Prof. Kumar's chapter (the genomic map of population diversity in Asia) in part 1 is remarkable for the extent of information it holds; especially interesting are details from the HUGO pan Asian SNP consortium's analyses on geophysical and linguistic categories of Asiatic peoples as well other expert opinion condensed in this chapter. Several chapters with country and sub-region specific population genetic information are found in part 2, especially with respect to epidemiological data. Some of these chapters include information particularly hard to normally locate, such as, for example, epidemiological information from the south Atlantic oceanic islands. Several chapters report studies on genetic population diversity. The majority of these are contributed by researchers in Latin America and Russia. While many of these chapters do reproduce published studies, the collection of them in one volume lends cumulative weight to furthering understanding of global population genetic trends and reading them together paints a fascinating picture in broad strokes of the human migratory picture. The present day developing world contains peoples who are descendants of the world's oldest recorded civilization, viz, the Indus valley civilization, the Yellow river civilization, those of the Lavant, Mesopotamia, etc. It is valuable to have a compendium of more detailed genetic studies of population diversity from these regions, over the current information generated by countries with relatively young populations, despite their best efforts to capture global population diversity by extension of their data. The extent of ethnic variation documented serves to emphasize the excessive population diversity present in the developing world, what may be another important “eye-opener” for most readers not familiar with the rich human diversity existing out of the “western” world. The many chapters dealing with genetic epidemiology and population diversity are complimentary and combine to offer a taste for the many ethno-specific genetic disease signatures that are, or may soon become apparent.

Apart from these main two themes, another area of notable focus is capacity building and development of genetics and genomics institutes at a national and region level. Both part 1 and part 2 contain several chapters discussing current LMIC countries' progress in this respect. These chapters are vital as a shared resource and will certainly be very beneficial to readers from LMIC countries. However this information is often buried within a chapter that broadly overviews the status of genomics within a country and requires a careful reading to unearth. Capacity building is often discussed with respect to offering newborn screening programs at the national level—a service gaining importance in the developing world as more is understood about region-specific disease burden. The shift towards a knowledge based economy by the oil-rich nations of the Middle East, in particular Saudi Arabia is interesting reading, on which note this reviewer must comment on the suitability of including Saudi Arabia among the LMIC nations. The discussion of challenges that LMIC countries face and are likely to face as they enter the genomics era by a few key contributors is an important addition. In addition to well-known experts in global genomic medicine based in the developed world, key contributions are made by experts who are based in LMIC nations addressing their home state. These latter chapters are perhaps more relevant as their voice can be considered more authentic. However again, they tend to be buried in large “state of the nation” chapters found in part 2 and are more difficult to locate.

POINTS FOR IMPROVEMENT

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

As with any work of such lofty aim there are several areas for improvement. One that is immediately obvious is the prohibitive size and weight of the volume. While no true seeker of knowledge should be fazed by how unwieldy the work is, the practical matter remains that it is not an easy tome to carry around. The contribution to the weight is not by any unnecessary formatting points such as large margins or empty pages, but by the simple fact of the many numbers of chapters and the lengths of each of these. A more thorough editing by the contributors themselves so that only pertinent information is succinctly summarized or by the editor to ensure no redundancy among different contributions may have reduced the size somewhat. Another solution might have been to include more material in the accompanying CD (although this avenue may give rise to significant copyright concerns given the nature of the work). Having said that, it is recognized this is a first compilation with a very broad scope and its size must be balanced by the wealth of information contained. The book is certainly an excellent library reference or useful addition to one's bookshelf. Another concern is the redundancy of some material, and sometimes conflicting data presented by different authors on the same issue as noted prior. The latter is a more serious issue and should be addressed by editorial remarks. However in relative terms this does not occur often but it is something to be aware of and the reader will need to make sure he or she reads all the chapters pertaining to a topic rather than only one, before forming an opinion on key issues. Finally the other significant limitation inherent in a work of this nature is the fact that it presents a static picture of a very dynamic field. This “developing world snapshot” as it were, may soon become outdated as the plummeting costs of genomics technologies is bringing about a very rapid transition of these technologies into the developing world. Several chapters that present a country-wide overview of genomics may soon need to be re-written. In this respect a more focused second volume that is smaller in size will certainly be appreciated and it is hoped the editors of the series have this in mind. A brief mention must be made on the appropriateness of the use of the term “developing world” as opposed to using “LMIC” which is gaining currency as being a more accurate and less demeaning descriptor in the title and throughout the text. While this reviewer prefers the latter she does not want to be pedantic, however does suggest some thought should be spent on terminology in future editions.

SUMMARY

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

In conclusion, this volume is certainly a first of its kind shining a much needed light on the developing world in this genomics era. While the volume can certainly be improved upon, in terms of sheer breadth and depth it is quite extraordinary. This work will be a “must have” reference for anyone interested in genomics beyond the industrialized world. It offers many pointers to tailor genetic counseling and other clinical genetic services to practitioners in the industrialized world as these countries now contain significant immigrant communities who have for the most part come from the developing world. Coupled to this, the high degree of consanguinity in the developing world means that there is a higher risk of genetic disease that will result in more and more referrals to medical genetics services. Therefore for the medical genetics professional in both the developed as well as the developing world, the book will serve as good background reading. The book will be essential reading for those engaged in teaching of genomics global applications. However at 250$ it may be out of the reach of many in the countries it sets out to serve. The fact that such a volume was conceived, edited, and published is laudatory. The main intention of the book is to provide an overview of genomics in the developing world, dealing with the “issues and challenges for the emerging economies of the developing world in confronting the rapid advances of genome science and technology.” The work has accomplished what it set out to do to a large extent, a remarkable feat by itself but one that is all the more valuable as it serves to highlight the state of genomics that pertains to the vast majority of the world's population.

ACKNOWLEDGMENTS

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES

F.R.Z. is supported by a CIHR (Canadian Institutes of Health Research) postdoctoral fellowship, a NeuroDevNet (a Canadian National Center of Excellence) award, and by the University of British Columbia Bluma Tischler award.

REFERENCES

  1. Top of page
  2. INTENTION AND SCOPE
  3. STRUCTURE AND CONTRIBUTORS
  4. THEMES
  5. POINTS FOR IMPROVEMENT
  6. SUMMARY
  7. ACKNOWLEDGMENTS
  8. REFERENCES