Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent DiseaseBMJ 2001; 322 doi: http://dx.doi.org/10.1136/bmj.322.7293.1068 (Published 28 April 2001) Cite this as: BMJ 2001;322:1068
- Paul Pharoah, CRC senior clinical research fellow and honorary consultant in public health
Eds Muin J Khoury, Wylie Burke, Elizabeth J Thompson
Oxford University Press, £47.50, pp 660
ISBN 0 19 512830 3
The potential for rapid advances in our understanding of the genetic basis for health and disease has been heralded by the publication of the sequence of the human genome. These advances are likely to present considerable challenges to, as well as opportunities for, public health practitioners, and the term public health genetics has been coined to define the use of knowledge from genetics research to promote health and prevent disease.
However, the authors of Genetics and Public Health in the 21st Century do not endorse the development of a new subspecialty of public health genetics. Instead, they emphasise the need for the integration of genetics into routine public health practice, the purpose of which is to “fulfil society's interest in assuring conditions in which people can be healthy.” The aim of this book is to provide a framework for this.
The interface between genetics and public health raises issues such as the value of genetic tests in newborn screening or screening for disease of adult onset, the delivery of clinical genetics services, the need for education and training, and the ethical, social, and legal implications of the use of genetics in public health policy. These issues are all addressed in the various sections of the book. However, few of these issues are new, and lessons learnt from neonatal screening for phenylketonuria remind us that the more things change, the more they remain the same. The fundamental principles for rational public health policy and programme development are no different in genetics than in any other subject.
Haemochromatosis is an example used in several chapters and provides an important model for public health as it begins to address genetic contributions to adult disease. Untreated, haemochromatosis results in the accumulation of excess iron stores, which may ultimately lead to organ damage and life threatening complications. Treatment by regular phlebotomy prolongs survival in symptomatic individuals and normalises life expectancy if started early. Thus, when variants in the HFE gene were found to be associated with iron overload a clear approach to early diagnosis was expected, with prospects for universal screening based on a genetic test. However, several uncertainties have emerged. In particular, details of the natural course of the disease in people with the at risk genotypes have yet to be clarified, and questions about the psychosocial and economic consequences of screening have yet to be addressed.
This book serves as a comprehensive review of genetics in public health practice and is likely to be of interest to a multidisciplinary audience. The authorship gives the book a strong north American flavour, but many of the messages are valid for public health practice in general.