From The New England Journal of Medicine
This collection of essays focuses on all aspects of the emerging field of pharmacogenomics except the science that underpins it. This omission is understandable because the science of pharmacogenomics is currently clouded by uncertainty. Pharmacogenomics refers to the use of genomic tools to understand differences among people in their responses to drugs, either in terms of efficacy or in terms of adverse effects. It is assumed that many of these differences derive from specific DNA-sequence variants. Yet this assumption is largely unproved. Moreover, we have little understanding of the nature or frequency of such functionally important variants or of their distribution in different populations. Still, the paucity of data has not prevented prominent academics and executives in the biopharmaceutical industry from making sweeping statements about how pharmacogenomics will bring about the era of "personalized" medicine. Such statements offer an irresistible starting point for considerations of the social and ethical implications of pharmacogenomics. Scientific uncertainty does not provide much on which to build an essay. The one indisputable fact about pharmacogenomics is that it offers a possible solution to immense clinical problems that currently have no solutions -- namely, serious adverse drug effects and the poor response of considerable numbers of patients to the available treatments for a given condition. It is therefore not surprising that the chapter called "Integration of Pharmacogenomics into Medical Practice" is the crispest essay in the book. The authors of this chapter offer concrete examples of success stories in which pharmacogenomics may have helped identify subgroups for specific cancer treatments. Other chapters offer fascinating glimpses into fields that may not be familiar to geneticists, genomicists, or clinicians and that have yet to be defined in relation to the anticipated effect of pharmacogenomics. For example, there are two detailed chapters about the legal implications of pharmacogenomics, one on intellectual-property law and the other on potential liability issues. These chapters show that it is possible to be prepared for a variety of alternative scenarios, depending on what the science indicates. What is really striking is the diverse ways in which the prospect of pharmacogenomics is influencing social science. Several forceful chapters focus on race -- what it means, how it is defined, and how pharmacogenomics may influence its relation to issues of social justice, such as discrimination and equality of access to health care. These chapters are particularly speculative, and their conclusions may change as the science of pharmacogenomics progresses, particularly if this science does not result in personalized medicine within the next several years. Still, they will be informative for geneticists or genomicists and provide a reminder that many people outside this field are going to be paying a lot of attention as discoveries about human genetic variation and drug response are reported.
Nelson B. Freimer, M.D.Copyright © 2003 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.
Review
"The discussion of societal, legal, economic, and governmental issues go well beyond the sphere of pharmogenomics." (
American Journal for Medical Genetics, September 1, 2005)
"...indispensable guide...as timely as it can be...an impressive multidisciplinary analysis...a 'must read'..." (Bioethics, Vol 18(4), August 2004)
"…Pharmacogenomics is highly recommended for anyone with an interest in the field…. Given this book's uniqueness…libraries at any institution teaching pharmcogenomics should have a copy of this book.” (Journal of Pharmacy Technology, Sept/Oct 2003)
"...well written, clear, and informative...a restrained sense of excitement...permeates throughout...clearly...a solid contribution to the discourse." (Nature Biotechnology, May 1, 2003)
"...chapters offer fascinating glimpses into fields that may not be familiar to geneticists, genomicists, or clinicians...they will be informative...and provide a reminder that many people outside this field are going to be paying a lot of attention as discoveries...are reported." (New England Journal of Medicine, July 24, 2003)
"...an excellent summary of aspects of phamacogenomics...a solid reference for those working in the field and a unique textbook for those new to the subject area." (Clinical Chemistry, Vol. 49, No. 9)
"...a welcome addition to the growing body of literature...highly recommended for anyone with an interest in the field...should be required reading for anyone conducting pharmacogenomic research and for all clinicians who use pharmacogenomics..." (Journal of Pharmacy Technology, Vol. 19September/October 2003)
"...addresses the ethical, legal, and social implications of the individualized medicine that pharmacogenomics stands to create..." (Genetic Engineering News, Vol 23(14), 2003)
