Projects are cropping up all over the world aiming to chart the genomes of entire populations, and the Internet of Things is starting a revolution in self-monitoring, prevention and DIY health. Genetics is taking the step from pure research to practical application, and this raises a number of issues that we must consider for the future.
When the Human Genome Project announced in 2000 that the human genome had been successfully charted, it raised enormous expectations for a revolution in health. There was faith in a clear connection between specific genes and specific disorders, and it was thought that in the future, it would be possible to take much more precise action and correct the individual errors. However, it turned out that human biology wasn’t that simple. For most diseases, it is a matter of a connection between several genes and the influences they are exposed to – and the giant leap of making genetics routinely useful has failed to materialise. This is about to change now, and in the future, genetics is going to revolutionise our health service and our approach to health in general.
Briefly told, genetics is the field of biology that deals with the architecture of genetic material, its function and its transfer from parents to offspring. In many ways, genetics is the basis of what we are. it is here, in our genes, that we are defined as individuals. Even though we all look different, we are still 99.9 percent genetically alike, and we all share 50 percent of a banana’s genes. When it comes to health, however, the minute differences between people may still make all the difference, and hence it is vital to know our genes when making individualised, tailored medical treatments.
Genetics is an old discipline that dates back to the evolutionary teachings of the 19th century, but today, research in genetics has reached a level where it can be used widely in a more practical sense. We now see several major projects being planned and initiated. The project Genomics England has begun mapping the genes of 100.000 English medical patients. in the United States, the US Veteran Project is in the process of charting the genomes of 1 million soldiers, and FarGen in the Faeroe islands is working with a model where all citizens are offered to have their genomes charted. in Denmark, Danish Regions announced early in 2015 that the organisation planned to chart the genomes of 100,000 Danes to accelerate the use of genetics in the Danish healthcare system.
Genetics is also used outside the established private and public healthcare systems. for some years, it’s been possible to buy genetic tests on the internet. The front runner is the US company 23andMe, which offers a test that provides a risk evaluation for a number of disorders. Here, you can also ‘link’ with people sharing your disorder or risk profile, find unknown relatives, and donate your data to research if you so desire. Today, 23andMe is the world’s greatest biobank, with a million sequenced individuals collected through saliva samples sent by mail.
A perfect storm
There are several reasons why we today see a swift growth in the research and practical use of genetics and genomics (the study of the entire genome). The key factors are technological advances, digitisation, the spread of the internet of Things and wearables, and a general pressure on healthcare systems across the world to perform more and optimise their resources. Hence, both the necessities of healthcare and incredible technological advances knock on the door of change.
The technology for sequencing genomes (charting genes) has improved quite a lot in recent years in several crucial areas. The machines for reading genomes have become faster and a lot cheaper to use; today, a genome of good quality can be read in a day for just USD 1,000. When you sequence a genome, you work with enormous volumes of data (3.2 billion base pairs making up 25,000 genes in 23 chromosomes). For this reason, the rapidly declining cost of data and new forms of storage and compression contribute to make the process a lot less challenging than it was just five years ago.
Automated digital solutions that can create systematic information from health data are even now entering the care systems. IBM’s supercomputer Watson, which can react to questions and find answers in its enormous knowledge bank, is by now a familiar example. As the technology is developed further, it will no doubt enable far faster and better diagnostics in many areas – and not least compensate for the deficit of doctors that plagues much of the world.
The genetic engineering tool Crisp9 is yet another new discovery that has made genetic manipulation much simpler and more accessible. Crisp9 is a natural defence mechanism in bacteria that scientists have been able to hijack and use as tiny scissors that can cut into DNA strings quickly and with precision.
We thus have some clear technical drivers that lie behind the development of great sequencing projects and concrete plans for integrating genetic knowledge in the healthcare system. The technology is also important at the individual level, where ongoing digitisation and the advent of the internet of Things and wearables offer new opportunities for the private collection and sharing of data and combining data sources in ways we couldn’t dream about just five years ago. Apple has recently announced that it will include a genome analysis app in its iWatch with a physical test that can be performed anywhere at any time. To a certain degree, you can have your lab in your pocket. This announcement comes at a time when the competitors Google and Facebook have just decided to offer internet access to the parts of the globe that aren’t online today. Projects like these will no doubt drive the acceleration of digital health solutions, including genetics, both in developed and developing countries. The process could very well be driven by the emerging middle classes in Asia, Africa and South America, who don’t get their health needs covered today and who hence make up a promising market with good scaling opportunities.
Technological advances also play into the pressure that healthcare systems are subjected to. Central challenges are ageing populations and the increasing cost of new and expensive treatments. This urges many actors to call for a paradigm shift – from a reactive to a preventive healthcare system. The goal is to make preventive health measures and tailored medical treatment based on genetic knowledge the norm in the future, creating a better and faster healthcare system.
Genetics is a discovery – not an invention
With the latest genetic knowledge, everything points to the demise of ‘one size ts all’ as a health model. Drugs and other kinds of treatment should be adapted to the individual, and prevention – rather than cures – will gain ground in treatment. The great revolution of the healthcare system and the approach to health in general that genetics and genomics bring us open for a wide range of political, legal, cultural and ethical questions that we must consider.
With a more preventive approach to medicine comes a greater responsibility on the part of individual citizens for their health and access to use their own health data. This will require that we get used to sharing data, so we can learn about the connections between health and disease in a genomic perspective. This in turn makes demands on data security and measures to prevent abuse. The use of this sort of data also requires a certain measure of faith and willingness among citizens to give data to biobanks and other storage facilities. In the Nordic countries, people generally have a high degree of trust in systems and are willing to let authorities keep personal information. This is not the case in most of Southern Europe and countries like France and Germany. The trust that citizens in Nordic countries show in the state, and the extent to which authorities openly collect genetic data, are unheard of and a frightening proposition in most other countries – where there may be greater trust in a commercial, foreign actor.
If our society of equality is unable to handle the biological and genetic diversity of our citizens and the unequal needs that follow, health in the genetic and digital age may end being handled solely by big, international corporations. The advantages of genetic knowledge are great, and if public healthcare is reluctant and doesn’t take the lead, other actors with the means are sure to.
So why this reluctance? There are many aspects of genetics that may scare some away. Do we for instance desire a different health discourse, with stratification of patients and preventive health measures using personal data? Are we willing to collect and protect the molecular data of our citizens? is there a risk of stigmatisation or the abuse of data? Because of these issues, most nations and politicians have feared to take genetics by its horns and set a framework for how to store and use genetic information in our society. The consequence is that the industry is setting the framework, and nobody wants that – least of all the industry. Yet if we politically desire to work with preventive and personal healthcare, it requires us to produce and use individual data and to share individual data in order to develop the necessary knowledge. it is a political decision whether we dare – and desire – this.
When the ethical discussion falls on genetics, there is a tendency to refer to genetics as an invention that we can choose or reject to use. This is problematic, since genetics is a discovery and not an invention. The molecular systems, connections and contexts in our bodies are not made void just because we refuse to look at them. Hence, the debate should not be about whether we want genetics or not, since we have it – inside all of us. What we can discuss is the right to know or not to know. it should be legitimate to reject the information, but also to want to know it. What could be the rationale for denying an individual knowledge of his or her biological makeup, if this knowledge is available? It could only be explained by an overbearing mindset that assumes we aren’t strong enough to handle the knowledge about ourselves that already exists inside us.