The Language of Life: DNA and the Revolution in Personalised Medicine
Published by Profile Books
ISBN-10: 184668353X , ISBN-13: 978-1846683534
Buy this book from Amazon UK
The author of this book was head of the Human Genome Project at the time when the pioneering work to sequence the human genome was carried out. Furthermore, the cover of the paperback carries an endorsement of his work from no less than Barack Obama, who nominated him for his current post as Director of the US National Institutes of Health (NIH). So this is an important book. Aimed at the general public, it sets out to engage lay readers in the profound issues raised by the sequencing of the human genome. Dr Collins describes the resulting shift in our understanding of health and healthcare:
'For centuries, we considered ourselves to be healthy until symptoms of illness arose. Once diagnosed, correctly or not, we received standardized treatments….the human body was generally ignored until something went wrong.
Today, we have discovered that everyone is born with dozens of genetic glitches. There are no perfect human specimens. But not all our glitches are the same, so one treatment often does not fit all sufferers of a given disease. Not just our medicine but our fundamental attitude towards the human body is changing'.
Dr Collins describes how analysing an individual's DNA can influence medical treatment and lifestyle choices, as well as opening up new possibilities for treatments. The book is written in an accessible style and, amid his somewhat breathless enthusiasm for the scientific achievements, Dr Collins never loses sight of the human end to which they are directed. The book is full of real-life stories of people affected by diseases for whom this work has immediate significance. Take, for example, 'family 15', many of whom carry the BRCA 1 mutation and with it a high risk of breast and ovarian cancer. Testing for this mutation allowed family members to take timely action: those affected had screening and even a preventative double mastectomy, while a family member who tested negative was able to avoid such drastic action.
Genomics, including this area of it, is still in its early stages, and Dr Collins concludes his book with two versions of a fictional patient's story. In one, the full potential of genomics has been realised and the patient and her family are spared early death and disease by appropriate medical and lifestyle decisions following DNA sequencing. In the other, things continue as they are today, and the patient and her husband meet sad and premature ends. Although Dr Collins is careful not to encourage false hopes, there may be readers with existing conditions who are frustrated that many of the treatments described in the book are still too far in the future to help them.
Dr Collins also considers some of the ethical and legal implications of this work, such as privacy, discrimination and commercial exploitation. It is here that the difference between American (where the book was written) attitudes and attitudes in the UK and elsewhere are most obvious. Dr Collins appears happy with the private commercial companies that carry out 'Direct-to-Consumer' DNA sequencing. He also seems comfortable about this personal information being stored in commercial electronic health records, such as Google's, when others might be more circumspect about its commodification and privacy issues. He is, though, highly critical of the patenting of genes, such as BRCA 1/2, and warns against the potential 'wild west' of unscrupulous operators.
In this book, Dr Collins aims to help his readers take relevant decisions about their health. Personalised medicine requires personal decisions by everyone, not only those already affected by particular conditions, because we all have 'glitches' in our DNA that may someday manifest themselves as disease. People have to decide whether to be tested and what, if anything, to do with the results. Recognising that treatment and prevention of disease requires public understanding and consent more than ever before, each chapter ends with a section entitled 'What You Can Do Now To Join The Personalized Medicine Revolution'. This gives practical advice (mostly from American sources) on how to follow up on information given in the main text. Healthcare is no longer something handed down by the professionals to the public; the choice to be tested, and to act on the knowledge gained, is an essential part of the genomic revolution. This book provides an authoritative and readable introduction to these issues.
Buy The Language of Life: DNA and the Revolution in Personalised Medicine from Amazon UK.