Genome Studies: Personalised Medicine around the Corner?

US President Barack Obama is proposing to spend $215 million on a precision medicine initiative, whose centrepiece will be a national study drawing on the health records and DNA of one million volunteers.

The term precision medicine refers to treatments tailored to a persons genetic profile, an idea which is already transforming the way doctors fight cancer and some rare diseases. When treating cancer, for example, doctors can nowadays assess any molecular abnormalities in the cancerous cells so that they can apply the appropriate treatment. Some types of abnormalities may be found in different types of cancer, and patients with these conditions will be given the same treatment. Studying a set of molecular abnormalities in a patient in order to prescribe a unique, personalised treatment for his/her condition appears to be the future of medicine and this means that going forward treatment will be based on peoples individual genetic maps

Barack Obama has recently put forward a funding initiative to support precision medicine with a view to developing technology that has to date been under-exploited. The aim is to change the old one-size-fits-all approach, as Jo Handelsman, associate director for science at the White House Office of Science and Technology Policy, puts it, and to move towards personalised medicine using information from the human genome. Under the Federal funding proposal, $130 million will go to the National Institutes of Health (NIH) for development of a voluntary national research cohort of a million or more volunteers to propel our understanding of health and disease and set the foundation for a new way of doing research through engaged participants and open, responsible data sharing, says the White House factsheet. This will be the largest genome study ever carried out at country level, and should open up amazing opportunities for the advance of science.

In the 1970s, the noted French biologistJacques Monod, regarded as one of the fathers of modern molecular biology, opined that the scale of DNA was too vast for scientists ever to be able to modify the human genome. Just six years later, the first genetic manipulations were being carried out. As recently as 1990, there was general consensus among genetic scientists that human DNA would never be sequenced, yet this feat had been achieved by 2003. Enormous progress has also been made in reducing the cost of human genome sequencing, which has fallen from $3 billion to just $1000 per person! In fact so mainstream has DNA sequencing become that the company ranked by MIT in 2014 as the smartest in the world was Illumina, a San Diego, California-based firm that develops, manufactures and markets integrated systems for the analysis of genetic variation and biological function. Today the main focus of investment in digital health is onBig Data and analytics.

Some companies are now even specialising in combating ageing, including California startupHuman Longevity Inc., a genomics and cell therapy-based diagnostic and therapeutic company whose stated goal is to tackle the diseases associated with age-related human biological decline. The web giants are also muscling into this field. Google is out in front via its R&D biotech firm California Life Company (Calico) on an amazingly ambitious mission to vanquish death, as CEO Larry Page put it. Clearly the White House is aware of the huge opportunities in this sector, hence the Presidents intention to channel Federal dollars into the search for DNA-based treatments.

Jo Handelsman predicts that significant scientific progress will result from studying the genome in a large number of people and merging this information with data from other ongoing studies. In fact she believes it will be a major step forward in how we see medicine. Some $130 million of the budget proposed by Barack Obama will be allocated to the NIH to fund the huge volunteer genome study. Another outcome of the initiative is that patients will be able to obtain lots of genetic information about themselves. We arent just talking about research but also about patients access to their own data, so they can participate fully in decisions about their health that affect them, underlined the director of the White House Office of Science and Technology Policy, John Holdren. The proposal also earmarks $70 million for DNA-driven research on cancer and another $10 million for related certification work by the US Food and Drug Administration.

NIH director Francis Collins underlined that the United States is not looking to create a single bio-bank. Instead, the project will seek to combine data from among over 200 large ongoing American health studies, which jointly together involve at least two million people. The challenge of this initiative is to link those together. Its more a distributed approach than centralised, he explained. Meanwhile, in the search for data, NIH officials have met in recent weeks with administrators from the Veterans Health Administration, whose ongoingMillion Veteran Program has already collected DNA samples from 343,000 former soldiers. Obama also wants to allocate grants to private sector technology firms, and Illumina is likely to be an early beneficiary. As the famous work La mort de la mort (The Demise of Death) by French surgeon DrLaurent Alexandre points out, progress in the field of medicine in the 21st century is in the process of delivering a scientific revolution on an unprecedented scale.

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Genome Studies: Personalised Medicine around the Corner?