Molecular medicine : genomics to personalized healthcare

347 Pages·2012·9.5 MB·English

by  R J Trent

MOLECULAR MEDICINE
Genomics to Personalized Healthcare
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MOLECULAR
MEDICINE
Genomics to Personalized
Healthcare
FOURTH EDITION
Ronald J Trent
PhD, BSc(Med), MBBS (Sydney), DPhil (Oxon), FRACP, FRCPA, FFSc, FTSE
Professor of Medical Molecular Genetics, Sydney Medical School, University of Sydney and Director,
Department of Molecular & Clinical Genetics, Royal Prince Alfred Hospital, NSW 2050, Australia
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Academic Press is an imprint of Elsevier
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First edition 1993
Second edition 1997
Third edition 2005
Fourth edition 2012
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Contents
Acknowledgments and Dedications vii
Preface ix
1. Genes to Personalized Medicine 1
2. Genes, Environment and Inheritance 39
3. DNA Genetic Testing 81
4. Omics 117
5. Delivering Genetics and Genomics Direct-to-Consumer 153
6. Public Health, Communicable Diseases and Global Health 169
7. Development, Aging and Cancer 203
8. Molecular and Cellular Therapies 245
9. Forensic Science and Medicine 275
10. Ethical, Legal and Social Issues (ELSI) 301
Index 329
v
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Acknowledgments and Dedications
I would like to thank members of the Mary Preap and Julia Haynes from Elsevier
Molecular Genetics Laboratory at RPA Hospital. have been very supportive.
Their skills and dedication made molecu- I dedicate the 4th Edition to my family – Pit,
lar medicine a lot more interesting. Prof. John Charlotte and Timothy. They have constantly
Buchanan in Auckland understood early on provided support and understanding when I
that Molecular Medicine was important for needed to do “home work” for this book. Also
patient care and steered me towards the educa- my Executive Assistant Carol Yeung, who has
tional aspects. My mother Ninette and my sister drawn the illustrations for all four editions and
Lynette have always been there when needed. still remains enthusiastic.
vii
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Preface
There have been six major developments professionals are suitably engaged. The first edi-
since the third edition of Molecular Medicine: tion was subtitled: An introductory text for stu-
dents. This was left out in subsequent editions
1. Growth of omics particularly genomics;
on the assumption that the clinical applications
2. The start of whole genome sequencing for
of DNA-based medicine were being taught in
patient care;
the universities. However, new developments
3. Broader acceptance of personalized medicine in
in omics are occurring rapidly, and there is some
selecting the right drug or its dose based on
concern that their educational aspects are not
molecular typing of patient DNA;
being addressed in many of the modern cur-
4. A shift to somatic cell genetics particularly
ricula. Governments and major research funders
solid cancers;
are attempting to fast track the translational
5. Expansion in the Direct-to-Consumer DNA
aspects of molecular medicine but this will not
testing market, and
be enough without linking their initiatives to the
6. Recognition of a roadblock to the effective
education of tomorrow’s health practitioners.
translation of molecular medicine research
This edition no longer has a Glossary or
including the need for better bioinformatics to
Methodology because this material can be found
understand the significance of DNA variants
on the Internet. Nevertheless, Methodology
and the many changes in DNA, RNA or even
remains important, since patients and fami-
chromosomes now detectable through omics
lies are interested and will go to the Internet,
strategies.
so the health professional may be asked techni-
The title to this edition has subtly changed cal questions. In the era of open yet personal-
to include reference to personalized medi- ized medicine, there is no reason why the health
cine, which, as explained in Chapter 1, is not professional and the patient or family can-
new with some taking it as another example of not sit down and work through the technical
inappropriate hype. Nevertheless, it attracts issues using the computer as a component of the
attention and so is useful if it helps to push the consultation.
translational components of molecular medi- Ronald J Trent
cine and ensures the next generation of health Sydney, December 2011
ix