Predictions for Genomics in 2018
There's no doubt that developments in technology and science hold great promise, and for those of us in healthcare and biomedical research, unlocking the secrets of the genome (there I go, over-egging the pudding in the first sentence) provides a key to understanding and potentially treating many rare disorders.
Rare disorders, 80% of which are genetic, affect 6% of the population, which means that having a rare disease is a common problem. Children are massively over-represented in this group, affecting them and their families and society to a If we understand the mechanisms, particularly in relation to the genome, that has to lead to better treatments and improved quality of life for patients and families, right?
Well, as in everything, it turns out to be a little more complex than that, and this article from Genomics Education Programme is a fantastic short summary of some of the views of three key thought leaders in UK Genomics - Prof Sue Hill, Prof Bill Newman and Prof Frances Flinter.
What I find most refreshing and hopeful about this article is that although the science and tech feature heavily (as is appropriate), the main thrust is about delivery. It is about taking what we know and what we can do, and making it what we do do. In many ways, this is what the NHS does best. It can take findings from science, engineering, ethics, health management, patient experience etc, and turn them into action.
The UK has been the world leader in genetics and genomics since before Crick and Watson. But the challenge isn't just the science - the main challenge is turning that into patient benefit at a population scale. That is what 2018 is holding out for us - the year in which genomic analysis, and all that flows from it, becomes routine. Not a test tagged on at the end of a long, painful, costly diagnostic odyssey, but an up-front acquisition and examination of genetic and genomic factors that influence disease. The genome will become as much part of the background information as the classical Presenting Complaint & History of Presenting Complaint in a medical setting.
This will not be easy - it will require a great degree of education and engagement, as well as access to the technology to deliver the sequencing, and the expertise to turn sequence into relevant medical information. And that needs to be translated into decisions and actions that improve health outcomes. You will not get this from direct-to-consumer testing companies - it needs to be integrated into a health system that securely manages your health and genetic data on a long term basis - one which you the patient have ownership of, and can update and interact with. So the challenge is major, but this is definitely achievable, given the right will and resource.
While this is exciting and hugely promising, we need to remember not to over-promise from the genome. Not all diseases are genetic, and even the ones that are, are imperfectly understood. We don't understand many of the environmental or even just random factors that influence disease. Even in disorders we know are mainly genetic, once we've sequenced the genome, we still often can't identify which one of the 3.3 BILLION letters of DNA represents the particular spelling mistake we're looking for. That's for about 50% of recognisable rare disorders - and that 50% is shrinking, so we know we are on the right track.
No real-life Clinical Geneticist will tell you that once we know your genome we can predict your health - there are too many other variables, including the complex interaction between genetic variants themselves. For instance, we completely mathematically understand Newton's laws of motion and gravitation, but it is provably impossible to derive a formula to predict the long term exact positions of three gravitationally-interacting bodies. Now scale that up to 20,000 genes interacting, which contain hundreds of thousands of variants, many (most) of which are hardly understood at all.
But that is not doom and gloom - we do know the roles of many genes, and there is a lot we can do to stratify our medical approach in order to avoid the avoidable, and to target resources where they will have best effect. Genomics will revolutionise medicine, and for many of my patients, is already doing so.
So while we wait for the genomic glories of 2018 to unfold, what can you as Joe Public do? You already know - eat less (particularly less sugar and refined carbs - replace them with fruit & veg), move more, get outside, give and receive love, help those in need, look for the best in everyone, learn some first aid, sing, support science, and report any worrying symptoms to your doctor.
Rare disorders, 80% of which are genetic, affect 6% of the population, which means that having a rare disease is a common problem. Children are massively over-represented in this group, affecting them and their families and society to a If we understand the mechanisms, particularly in relation to the genome, that has to lead to better treatments and improved quality of life for patients and families, right?
Well, as in everything, it turns out to be a little more complex than that, and this article from Genomics Education Programme is a fantastic short summary of some of the views of three key thought leaders in UK Genomics - Prof Sue Hill, Prof Bill Newman and Prof Frances Flinter.
What I find most refreshing and hopeful about this article is that although the science and tech feature heavily (as is appropriate), the main thrust is about delivery. It is about taking what we know and what we can do, and making it what we do do. In many ways, this is what the NHS does best. It can take findings from science, engineering, ethics, health management, patient experience etc, and turn them into action.
The UK has been the world leader in genetics and genomics since before Crick and Watson. But the challenge isn't just the science - the main challenge is turning that into patient benefit at a population scale. That is what 2018 is holding out for us - the year in which genomic analysis, and all that flows from it, becomes routine. Not a test tagged on at the end of a long, painful, costly diagnostic odyssey, but an up-front acquisition and examination of genetic and genomic factors that influence disease. The genome will become as much part of the background information as the classical Presenting Complaint & History of Presenting Complaint in a medical setting.
This will not be easy - it will require a great degree of education and engagement, as well as access to the technology to deliver the sequencing, and the expertise to turn sequence into relevant medical information. And that needs to be translated into decisions and actions that improve health outcomes. You will not get this from direct-to-consumer testing companies - it needs to be integrated into a health system that securely manages your health and genetic data on a long term basis - one which you the patient have ownership of, and can update and interact with. So the challenge is major, but this is definitely achievable, given the right will and resource.
While this is exciting and hugely promising, we need to remember not to over-promise from the genome. Not all diseases are genetic, and even the ones that are, are imperfectly understood. We don't understand many of the environmental or even just random factors that influence disease. Even in disorders we know are mainly genetic, once we've sequenced the genome, we still often can't identify which one of the 3.3 BILLION letters of DNA represents the particular spelling mistake we're looking for. That's for about 50% of recognisable rare disorders - and that 50% is shrinking, so we know we are on the right track.
No real-life Clinical Geneticist will tell you that once we know your genome we can predict your health - there are too many other variables, including the complex interaction between genetic variants themselves. For instance, we completely mathematically understand Newton's laws of motion and gravitation, but it is provably impossible to derive a formula to predict the long term exact positions of three gravitationally-interacting bodies. Now scale that up to 20,000 genes interacting, which contain hundreds of thousands of variants, many (most) of which are hardly understood at all.
But that is not doom and gloom - we do know the roles of many genes, and there is a lot we can do to stratify our medical approach in order to avoid the avoidable, and to target resources where they will have best effect. Genomics will revolutionise medicine, and for many of my patients, is already doing so.
So while we wait for the genomic glories of 2018 to unfold, what can you as Joe Public do? You already know - eat less (particularly less sugar and refined carbs - replace them with fruit & veg), move more, get outside, give and receive love, help those in need, look for the best in everyone, learn some first aid, sing, support science, and report any worrying symptoms to your doctor.
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