In the decade since the decoding of the human genome, an explosion in personal testing kits has been accompanied by short-term disappointment in progress towards a new era in treatment. A new book by one of the world’s leading experts helps put these trends in context.
While Sergey Brin, the co-founder of Google, has made an extraordinary contribution to harnessing the power of cyberspace, his wife Anne Wojcicki has provided an important boost to navigating the mechanisms of our own bodies. Her company, 23andMe, is part of a wave of “direct to consumer” genetic testing services launched in the past few years that capitalise on the recent breakthroughs in medical science described by Francis Collins in his new book, The Language of Life.
Collins analyses these exciting advances in genetics for the lay reader while providing scientific caveats to temper excessive enthusiasm, as well as discussing broader ethical and policy questions. Jeffrey Gulcher, chief scientific officer of deCODE, another genetic screening company, used his own test to look for mutations linked to diseases. He found he had a relatively high risk of prostate cancer, triggering an operation to tackle a cancer more conventional tests had not identified.
Brin, by contrast, had to decide whether to look for the LRRK2 mutation that raises the risk of Parkinson’s disease, from which his mother suffered and for which there is no cure. He discovered from 23andMe that he had it, but has no regrets, arguing it has helped him prepare for old age and fund research into the disease.
Collins is a uniquely placed guide for such medical and moral issues alike. Head of the National Institutes of Health, which distributes $30bn of US taxpayer funds to scientific research each year, he ran the Human Genome Project, helping co-ordinate the international effort to decode DNA. He writes as a scientist with a passion for medical progress, but, as a doctor, he communicates well and has compassion for individual patients today. He donated his own royalties from work on cystic fibrosis to charity, and he opposes efforts to slow medical innovation through patenting, whether of gene sequences or related diagnostics.
Collins, a Christian who spent time on medical missionary work in Nigeria, explores ethical issues in relation to human stem cells. He is opposed to their creation purely for research, or for implantation in the uterus to create “clones”. But he favours using those produced for in vitro fertilisation that would otherwise be discarded.
He also personally trials the three main genetic testing services and finds them generally consistent. He warns, though, that many other companies’ tests for DNA variations are over-hyped and unreliable. Reliable genetic markers are still scant.
Collins is sceptical of generalisations linking genes to behaviours such as fidelity and criminality, and is hostile to attempts to use race as the basis of more precise genetic analysis. He cites one outspoken African-American teacher whose test revealed no such ancestry. The troubled history of screening in the 1970s for sickle-cell anaemia, which disproportionately affects African-Americans, was well-intentioned but poorly explained and largely conducted by whites, thereby raising the spectre of eugenics. “Racial profiling in medicine, even if well-intentioned, should recede into the past as a murky, inaccurate, and potentially prejudicial surrogate for the real thing,” he writes.
Collins describes how genetic variations linked to geographical origin could help develop “targeted” treatments – whether in differential susceptibility to the H5N1 flu virus, or resistance to HIV and malaria. He also stresses that understanding the human genome alone is not enough in tackling disease. It interacts both with the external environment and organisms within the body. Microbial communities in the gut, for instance, may play an important role in determining obesity.
If there is a frustration with this book, it is that it ranges so widely. Beyond whetting the appetite, its greatest value may be in Collins’ perspective as someone close to US policy formulation. He criticises the Food & Drug Administration, the US regulatory body, for not moving fast enough to link drugs to genetic tests that signal their efficacy, toxicity or dose; and he pulls doctors up for not always applying the guidelines that do exist. He is scathing about the limited use of electronic medical records that could do so much to help research and identify warning signs, and he urges everyone to complete their own family medical history: a first, cheap step towards genetic analysis.
In 40 years, as he describes, we may all wear “smart shirts” to monitor our vital signs. But a lot more could be done to improve health using lower-tech methods available now.
Andrew Jack is the FT’s pharmaceuticals correspondent