An interesting story which begets many questions. Not least what counts as a "serious genetic condition"!
Please try to keep to non-political (especially, non-party-political) comments - though inevitably the story has several obviously political aspects to it.
NHS to sell DNA tests to healthy people in push to find new treatments
Service will be free for patients with serious genetic conditions as health service in England aims to recruit 5 million volunteers
Healthy people in England are to be given the option of paying to have their DNA analysed by the NHS in an attempt to advance understanding and uncover new medical treatments, the health secretary has said.
The announcement of the service, which will also be offered for free to people with serious conditions, comes less than two months after NHS researchers said they had reached their goal of sequencing 100,000 whole genomes during five years of work by the 100,000 Genomes project.
“Genomics has the potential to transform healthcare and I’m really proud that the UK is leading the world,” said the health secretary, Matthew Hancock, on Friday. He added that “seriously ill children and adults with genetic conditions, including cancer, will be offered DNA analysis as part of their routine care” from this year.
“And, while healthy people should not have this service free on the NHS, there are huge benefits to sequencing as many genomes as we can – every genome sequenced moves us a step closer to unlocking life-saving treatments.”
Hancock announced the launch of the “genomic volunteering” scheme, under which people – both those who pay and those getting it free – will be given the option of having their DNA analysed by NHS scientists in an attempt to predict the patient’s risk of developing various conditions. In return, the anonymised data must also be handed to researchers to help them develop treatments.
The plans were met with some scepticism from those who suggested the results may be misinterpreted and highlighted the sensitivity of the data.
Anneke Lucassen, the chairwoman of the British Society for Genetic Medicine, told the Times: “There is still a lot of misunderstanding of what whole-genome sequencing can deliver. There is a view that it will give you clear clinical predictions and, most of the time, it will not.”
Helen Stokes-Lampard, the chairwoman of the Royal College of GPs, also told the paper: “We are talking about very sensitive personal data that needs to be understood and used responsibly, and it raises a lot of ethical issues. A lot of things that will be picked up by genetic testing will be unimportant or of dubious value.”
It was reported that the tests would cost hundreds of pounds. The Department of Health and Social Care said on Friday night that the exact cost was still under consideration and, addressing whether or not such testing would create a two-tier public health system, officials said the scheme would be consistent with the NHS’s founding principle of being free at the point of use.
It was unclear whether people who take up the option will routinely be offered counselling to deal with the contents of the reports they receive and whether the NHS will be expected to deal with the extra workload with current staffing levels.
According to the Times, ministers hope to sequence 5m genomes over the next five years, a significant proportion from paying customers.
There has recently been a significant move towards offering more personalised medical treatments based on genomic research. On Friday, Jonathan Symonds, the incoming chair of Genomics England – which will help administer the new project – said the next phase of the body’s work, after the sequencing of the 100,000 genomes, would focus on delivering “genomics-based diagnostics in clinical care”.
And last year it was announced that the NHS would become the first health service in the world to routinely offer genomic medicine. The new regime, which began in October 2018, prioritises “precision medicine”, which NHS England says takes greater account of people’s genetic differences, rather than a “one-size-fits-all approach to the treatment and care of patients with a particular condition”.
Yes, I saw this, too, and probably balked at the same thing most people reading this would: 'It was unclear whether people who take up the option will routinely be offered counselling to deal with the contents of the reports they receive and whether the NHS will be expected to deal with the extra workload with current staffing levels.'
Sometimes I wonder how much impact the results are likely to have on an individual.
If you were, for a classic example, to find you have something like Huntington's Disease in your genes and had no idea before, yes, a difficult issue. Also, any paternity (even maternity for some) questions. But for many of us we already know that some of our family suffered from arthritis, heart disease, haemochromatosis, or whatever else.
Especially as, at least at present, we often have very little idea as to why a specific genetic make-up predisposes to a particular outcome.
Also, it is all very well discussing extra workload but, in some cases, it might reduce workload by identifying causes, by identifying inappropriate medicines and reducing the likelihood of being prescribed things which won't work or will cause side effects, etc.
Could save a fortune in unnecessary treatments, investigations, and medical staff time for thyroid patients if T3/NDT were offered to those that could benefit on genetic grounds. Mind you they don’t need genetic testing to offer choice just the will to trust our judgement in what we prefer to put in our bodies. The T3 rip off pricing needs to be addressed. I cannot understand why it is persisting.
I was reading this and thinking it sounded great - I'd love to know my risks so I can try to prevent them. We don't have family history of anything like Huntington's, just a lot of auto-immune disease and blood clots.
I remember seeing this covered in an episode of Ask the Doctor. They had to offer counselling before and after, and it was when they asked him if he could cope with the repercussions for his family, that his attitude changed. It could have showed up illnesses that would affect his parents and siblings. He was nearing a point of having kids, and if anything bad showed up, he'd have to consider whether it was ethically right to have them. So remembering this, I'm 50:50 whether this is a good idea.
I wonder how much the cost will be if you're not seriously ill?
Thanks for posting Helvella, most interesting and yes it does raise a lot of questions, especially how NHS will cope on top of its current situation of not coping!!
By selling the tests, I think they're trying to make a research grant stretch further. If they have a £1m budget, they might only be able to test 50,000 people, but by selling them they can test more, and get a greater results pool.
It would also tell them what tests a person may not need throughout their life. If you know someone doesn't have a gene for coeliac disease, you won't waste money testing them. The patient will be aware of their risks, and get tested as soon as they get symptoms, which could prevent them from developing e.g. osteoporisis, saving money on preventable illness.
The drawback is that 40% of the population carries the coeliac gene, but only 1% go on to develop it. It doesn't tell us much, other than that you don't need to worry if you're in the 60% camp. The gene test costs 5x the coeliac test, so it's not something they'll do as a routine.
Different system here. Not sure if I will have to pay or if it will be covered. It’s in my family so there’s a good chance it will be.
I expect to have either one allele or none. If I have one or none, the lifetime risk is negligible or nil. If both, then a family member was told it was highly likely he’d develop coeliac. In my case, it’s mostly to exclude the cause of the low iron levels I’ve always had (until I abandoned dietary guidelines and started to eat adequate meat) and the IBS. Lots of thyroid and IBS issues in the family and the recent discovery of coeliac genes in the family makes that IBS suspicious.
Will it allow those that need it to get T3? I very much doubt it. It sounds like an interesting step that could be of huge benefit but I worry about the data falling into the hands of insurance companies and the like if the NHS is completely privatised or flogs it off as an extra income stream allowing it to be used as a tool of descrimination and to make money out of poorly people or potentially poorly people with genetic predisposition to medical disorders.
I have had two genetic tests on the NHS for non Hodgkin’s lymphoma they must have done other stuff because they also thought I had a predisposition to cancer of womb/ovaries/bowel. No thyroid stuff was spotted. The NHL was indicated as a risk in the tests. Leeds seemed to be far more advanced in their analysis than Guys who were a lot less emphatic of their findings in all the areas Leeds had picked up on and this was despite having a lot more data to go on for Guys (ie family history where a lot more had gone down with related conditions in the interim). I suspect Leeds must have been pretty cutting edge. There’s another variable to think about - who does the analysis and how expert they are at it.
The long and short of it is there was no screening programme for NHL I could have, but at least I was warned about what to look out for and what to do about it - interestingly I was warned not to be fobbed off and to insist on further investigation should I get any of the signs they mentioned, which was revealing.
I prefer to know all the genetic info about me that I can, I find it rather fascinating. I don’t have the issues of passing my faulty genes on which makes it simpler. I feel I am on borrowed time anyway so all this is a bonus and knowledge is power.
Although there is some evidence that certain genetic factors mean that one person might need T3 and another doesn't, I don't think we have fully identified those factors.
It also concerns me that people without one of the known genetic factors could be refused T3 on that basis alone. Our understanding needs to be 100% before that could be acceptable. After all, a brand new, never-before-seen mutation would not immediately be recognised as identifying a need for T3 until full analysis has been completed. In the meantime, someone who has tried T3 and, in their opinion benefited, could have it de-prescribed due to ignorance dressed up as science.
I quite agree I think everyone should get the choice of combination therapy, DIO2 mutated or not. I assume it was why I felt awful on levothyroxine but of course I cannot be sure. If my levo happy relatives did not have it, that might strengthen the case. But I could be due to some yet undiscovered reason. I certainly feel massively better on NDT than I was on Levothyroxine at sub optimal dosage, a very reasonable optimal dosage, and even on over dosage - none of it got rid of some highly debilitating symptoms, which NDT sorted out - some very rapidly resolved others took a bit longer. Pity no one wants to study me to find out why.
I have poor conversion, but not because of DIO2, but problems with TRH and TSH receptors - so it's not that simple -= and just because you have a gene doesn't mean its expressed. As a country, we've spent so much on DNA sequencing that it HAS to be a cause, even when it isn't.
I think it is a global trend because it is so new and different to what has gone before. A new perspective that is irresistibly fascinating to the enquiring human mind’s thirst for knowledge and discovery - it is part of our make up. Like all these things it is as good or bad as the flawed individuals controlling it and the means to which they put it.
I only discovered I had that DIO2 thing long after my problems on Levothyroxine. At least it might explain it rather than having nothing to put back at the medical profession and being told you are a fantasist! There is so much thyroid disorder in my family (all close female relatives for 3 generations - so it cannot be a geographic environmental factor at play) it might be, but I can’t think it is, a mere coincidence. I only have genetic markers for Graves‘ disease not hypothyroidism (autoimmune atropic throiditis was my diagnosis) of the current ones known. Neither genetics departments I dealt with said I would get any of those diseases because of my genetics, they just acknowledged an increased risk and gave advice on what sensible measures to take for the future. For me that was very helpful.
Are there now cases of people being told their health problem is genetic, when it isn’t?
Is that TRH/TSH receptor problem thought to be genetic? I’d like to check it out in my raw data if it is.
Ta. I have an increase of 1.3 uIU/ml in serum TSH on rs4704397 and an increase in serum TSH on rs6885099 but I don’t understand what significance they might have. Does it mean anything to you? I did notice on FOXE1 I have one marker for slightly increased chance of hypothyroidism which I don’t remember finding before. I have two markers for increased risk of Graves’. I had very mixed symptoms but mostly felt hypothyroid with short bouts of overactivity - for decades before getting a diagnosis. I presume antibodies for Graves were not present or not tested for at that juncture. Initially they did think I had hyperthyroidism but the second test indicated overt hypothyroidism and once I was under an Endo I was definitely tested for antibodies. I should haul out the paperwork and have a look. It meant nothing to me at the time. I never got a copy of the hyper test.
Sorry, no idea. My PDE8B is GA which isn't all bad apparently - means I would need higher TSH in order to produce enough thyroid hormones, but the other one (which is all bad: GG) means that I won't ever produce the TSH I need as my brain doesn't notice what my thyroid hormone levels are. I have zero genetic risk of Hashis or Graves and wonderful DIO1 and 2.
Trouble is, a lot of diseases, like cancer, aren't actually genetic - they might be epigenetic, but are more likely metabolic, so it's just more barking up the wrong tree and wasting NHS resources when private firms are already doing tests. Yes, it might be useful to prove you have a faulty DIO2, but I bet thyroid problems won't be considered for free testing.
An interesting thing would be, given that many of us have already had private genetic tests of one sort or another, now that the NHS is considering this project, if they'd take the results of any private genetic test seriously? I think the experience of members of this forum is that some consultants do and some don't. If there was a general guidance on how to interpret the results and any recommended subsequent therapy, that would be a breakthrough!
Even if there is always an organisation called "the NHS" I expect we will all have to pay for medical insurance at some point in the future. I am not giving those insurance companies ammunition to whack the price up so high that it bankrupts me. Although I suspect they would easily get round that by saying it is compulsory to get DNA tested if you want one of their policies. I feel I'm damned if I do, and damned if I don't. But I won't volunteer anything about me unless I am absolutely forced to.
Another problem with this idea... Suppose I'm 25 years old and get my DNA tested, and this shows up that I have a greater risk of stroke or heart attack than average. I might be forced to declare that to all sorts of people and organisations e.g. medical insurers, employers, companies selling mortgages. My extra risk might make it harder to get all sorts of financial products because they could become unaffordable. Also my extra risk might make it harder to get some jobs or training. An employer might be less prepared to keep you up to date with training once you hit 35. I can see all sorts of drawbacks to getting DNA tested, particularly for the young.
And it gets so much more involved and complicated.
Imagine you have a genetic factor which historically has increased your heart disease risk by 100%. But the combination of you knowing that and steps that can be taken to avoid the risks could actually result in you ending up with a lower risk.
Whereas someone else has no known genetic risk factors but that is simply because they have not yet been recognised. As they don't know of any factors they, obviously, cannot take any specific steps to avoid that unknown risk.
Also, think about someone who thinks they have no such risk factors then research moves on and they suddenly go from low risk to high risk. Will that knowledge be passed on to them, and have then to be passed on to mortgage and insurance companies?
And the retirement age rising up and up - it is bad enough being middle aged and the goal posts shifting - even harsher for young people. To think everyone has survived millions of years - that is a success story. One bit of not so good DNA might be overridden by lots of good. This private medical insurance really ought to be made illegal. I think it is immoral to use DNA info to make money out people based on their genetic risk for ill health.
Let’s hope it remains as National Insurance - we do pay medical insurance already. However, I fear it will be privatised and we will end up with a hideous system like America. DNA info will allow private companies to make a killing in more ways than one.
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