Changing the DNA of healthcare

At the turn of the last century, photography was still a new technology to many consumers. They would purchase a Brownie camera, take their pictures, and send it off to be developed. Today, we are on the verge of doing the same with ourselves. Genomics – the science of unravelling human DNA – is promising a variety of healthcare developments, from more efficient drug prescription through to personalised medicine. But do we have the legal and ethical skills to cope with it? A genome is a complete list of all of the genes that make up a living organism's DNA. By understanding the order in which all of the genes fit together, we can understand what makes a person the way that they are. The first draft sequence of a human gene was produced in 2000, as part of a competing effort between the publicly funded Human Genome Project and Craig Venter's privately funded Celera project, which attempted the same thing. The sequences released by the different projects were refined over the next few years. Companies are already offering personalised genome mapping services. 23andMe, for example, sends kits through the mail for collecting saliva samples. These are then used to analyse variations in genomes that lead to understood differences in physiology, and other areas such as personality and other characteristics. But Keith Batchelder doesn't believe that such services hold much relevance at the moment. "They have shown by their limited uptake in the direct-to-consumer market that it is a promise that is yet unrealised," argues the chief executive of Genomic Healthcare Strategies, a consulting firm that helps companies to capitalise on genomic research. "Most of the genomic information that you get from those scans is not currently applicable to anything even as prescriptive as lifestyle changes." 23andMe did not respond to that comment, but it is worth noting that the company does not claim to sequence entire genomes. Rather, it focuses on finding variations in genetic makeup known as SNPs. However, complete personal genome sequencing is coming. Prices are dropping, and before too long, it will be possible to sequence genomes for $1000 (£610) or less. At that point, it becomes possible not only to understand common variations between an individual and society at large, but rather, to completely understand that individual's biological makeup. DNA on a smartcard That would mean that, in the future, it might be possible to create medicines specifically tailored for an individual's own genetic makeup. Barry Schuler, a technology industry veteran and board member at genome research firm Synthetic Genomoics, gave a lecture on genomic research at the TED Talks series of public meetings in June 2008. He describes the future of genomics as a shift from "shit against the wall pharmacology" to more precise medical treatment. This will mean that instead of bombarding all sufferers of a health problem with a cocktail of drugs designed for everyone, patients will receive drugs designed specifically for their genetic makeup. Eventually, we'll walk around with our genome encoded on a smartcard, he predicts: "You will give your genome to the pharmacist and he will give you a tailored medicine that works just for you." However, don't expect that to happen tomorrow, says Batchelder. "I think that's years away, but a more intriguing question is when people can be accurately put in groups that will benefit from understanding the response to drugs, or therapies, or the avoidance of adverse events," he says. In the meantime, there are still some valuable findings to be applied from genomic research in the healthcare context. For one thing, it becomes easier to predict the effects of specific drugs on certain individuals. One such drug, Warfarin, is designed to prevent blood clots, but certain genetic variations make some people more sensitive to it, which can lead to excessive thinning of the blood. Understanding these genetic variations can help physicians to prescribe the appropriate medication. The worry is that as our level of sophistication increases and we are able to garner more information about individuals more cheaply, it could lead to a crisis of privacy and ethics. One potential problem commonly mentioned is that insurance companies or employers could get hold of genetic information and use it to make decisions about whether they cover someone, or take them on for a job. However, lawmakers are already tackling the problem. In 2008, the US Congress passed the Genetic Information Nondiscrimination Act, which forbade health insurers and employers from discriminating against individuals based on their genomic makeup. Christian Burks, president and chief executive of the Ontario Genomics institute (OGI) in Canada, says that there are other issues to consider. "If I looked at myself getting a battery of tests at birth, for the first 20 years of my life, any impact of that information will mostly be determined by my family," he explains. "Who could and should know, and when does a patient's right to protect their information autonomously kick in?" One of the things preventing the easy exchange of complete genome sequence information is the inadequacy of our health records, he adds. They are simply not sophisticated enough to encompass that kind of information as of yet. However, with compression technology, it could become possible to hold a full genetic sequence in a record -- assuming that the available standard formats supported the storage. An article in the journal Genome Medicine last July by Mohammad Al-Ubaydli and Rob Navarro indicated that there is not yet a comprehensive standard for incorporating genomic medicine into health records. Clearly, there is still a long way to go before genomic medicine reaches the point where it totally alters the way that healthcare works. Nevertheless, it is already showing significant promise. In decades to come, people may look back on the way that patients are treated today and consider it barbaric. Putting our genetic makeup under the microscope is set to help our doctors see the bigger picture.