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Personalised medicine


Medicine is getting to grips with individuality


Their genes, environments and activities all make people different


Neena nizar is 42 years old, a professor of business studies and just 122cm tall. The ends of her bones are soft and pliable: on an x-ray they look frayed, like old paintbrushes. During her childhood and adolescence in Dubai she was operated on 30 times. The source of her problem remained a mystery. In 2010, after three decades of wondering, she finally received a diagnosis: Jansen’s Metaphyseal Chondrodysplasia, a condition first recognised in the 1930s. Her problems stem from a broken copy of just one of her 20,000 genes.


Dr Nizar is in some ways very unusual. Fewer than one in 200m people have the mutation to the PTH1R gene that causes Jansen’s disease. In other ways she is like everyone else. Although few people have a defect as debilitating, everyone’s health, and ill-health, is tied to the contents of their genomes. All genomes contain arrangements of genes that make psychological disorders, cancers, dementias or circulatory diseases either more of a problem or less of one. Everyone has genes that make them better or worse at metabolising drugs, more or less likely to benefit from specific forms of exercise, better able to digest some foods than others.


Nobody knows exactly how many human genomes have been fully sequenced, and different sequencing procedures read the genome to different degrees—there are quick skims and painstaking philological studies. But the number is in the millions (see chart). By the 2030s genome sequencing is likely to be as routine in some places as taking a pin-prick of blood from a baby’s heel is today—it may even be part of the same procedure. Genome science is becoming a matter of practical medicine. New therapies that make it possible to adjust or edit this genetic inheritance are coming to market.


This flood of data is allowing medicine to become more precise and more personal—in many ways, the p-words are two sides of the same coin. Previously recognised genetic diseases, such as Jansen’s, have been traced to specific genes and can be connected to defects in the proteins they create (almost all genes describe proteins, and proteins do almost all the body’s chemical work). Most of these diseases are rare, in that they typically affect no more than one person in 2,000 in the general population. But with over 6,000 such rare diseases now recognised, this means they are common in the aggregate. In Britain one in 17 people can expect to suffer from a rare disease at some point.


Studies of genetic diseases are not just a worthwhile end in themselves. Understanding what goes wrong when a specific protein is out of whack can reveal basic information about the body’s workings that may be helpful for treating other ailments. And the growing understanding of how large sets of genes may contribute to disease is making it possible to pick out the patients most at risk from common diseases like diabetes, heart conditions and cancer. That will help doctors personalise their interventions. In theory, the rise in access to personal genetic information allows individuals to better calculate these risks and to take pre-emptive action. In practice, so far, few people seem to do so.


Genomics is not the only source of new personal-health data. Just as all genomes are unique, so are the lives that all those genome-carriers lead. The increase in other forms of data about individuals, whether in other molecular information from medical tests, electronic health records, or digital data recorded by cheap, ubiquitous sensors, makes what goes on in those lives ever easier to capture. The rise of artificial intelligence and cloud computing is making it possible to analyse this torrent of data.


Beyond this, the “move fast and break things” attitude common in tech companies sits uneasily with “first, do no harm”. And the untrammelled, unsupervised and unaccountable means of data accrual seen in other industries which have undergone digital transformations sits uneasily with concerns over medical privacy.

除此之外,科技企业普遍秉持“快速行动、打破局面”理念,这与“首先,不应造成伤害” 理念格格不入。在经历了数字化转型的其他行业看来,获取数据的方式不受限制、不受监管、不负责任,这与备受关注的医疗隐私格格不入。

The very nature of medicine, though, means that the future will not just be a matter of business goals, research cultures, technological prowess, wise practice and well-crafted regulations. It will also be subject to the driving interests of particular individuals in ways never seen before. The development of gene-based medical research in Britain was deeply affected by the short, difficult life of Ivan Cameron, whose father, David Cameron, did much to build up genomics when he was prime minister. Many of those working in this field are impelled by personal loss.


And then there are those whose interests stem from the way in which their own genes shape their lives. People like Dr Nizar, who is now crafting a new research agenda for Jansen’s disease. There may only be 30 people in the world who suffer from it. But two of them are her children, and they are in ceaseless pain. Science knows why; medicine cannot yet help. “We believe in miracles,” she says. She is also working to make one happen.