Can we eliminate genetic disease through better awareness?

This was the question posed at a heretics meet last week. The group consisted of scientists but also other academics, so it was interesting to hear the various arguments and points of view that were sparked by the idea. 

The speaker, a good friend of mine, had named his talk sterilization and stated that he believed that we could considerably reduce the risk of children in the next generation being born with genetic diseases by introducing some simple protocols in the UK. He suggested having the entire population (above the age of 13) screened for genetic diseases to make them aware of their genetic make up and to ensure they are fully conscious of any genes they may be carrying which could be passed on to their potential children. This was the basis of his argument. He went on to state that before people decide to have a baby, the parents could cross their genomes, in a similar way to the way that we do it in Punnet squares at GCSE, to check the likelihood of their child being a sufferer of a given disorder. With this awareness they could then decide whether they would still like to have the child or whether something like IVF, for example, would be a better route for them. He proposed that they should be given 2 chances to have children who were genetic disease free naturally, followed by a chance at subsidised IVF, before they would be told they should no longer reproduce. So sterilisation would only be used in cases where people tried to cheat the system and continued to reproduce despite the fact that the children were suffering from genetic diseases and realistically the use of this title was an attention seeking stunt and he himself admitted that.

Of course the heretics society got hung up on the fact that he had suggested preventing people from having children, which to them seemed unfair, and in fact probably is. However, the main focus of his argument was actually pretty strong. If we consider the cost of sequencing a genome compared with the cost of treating a patient with CF for a lifetime, for example, the healthcare system could definitely benefit from taking measures to reduce the instances of these genetic diseases. Given that it could be fairly simple to determine probabilities in terms of the offspring suffering from the genetic disease. I would like to think that if people were aware of these probabilities, parents would consider this as a factor in their decision to have children. This being taken into account, I think it is likely that we would see a decrease in the incidence of genetic disease in the next generation purely through raising awareness. Of course the process would be expensive to implicate at first but I would see it as being similar to a vaccination program, such as the flu jab, which is offered to those who need it every year. This would be the case with the screening in my opinion. Every child who had turned thirteen in the past year (after the first year, of course) would be screened.

Something to consider, however, would be genetic diseases such as Huntington’s, which would not affect the sufferer until much later in life, but are also known to have no treatment. Some people may opt not to be screened because they would rather not know, and we need to consider that this is their right. However, this would interfere with the whole system and could affect the population in that the disease may be passed on to the next generation in an instance where it may not have been if protocol had been followed. We must think about the balance between ensuring that everyone’s rights are fully taken into account and making sure that the process is effective and of course cost efficient.

But obviously it shouldn’t be all about money. (Even though a lot of the issues in the NHS nowadays are…) We must ask ourselves if we think it is acceptable that children still wake up with Tay Sachs disease when this could have been prevented by a simple screening program to give parents the awareness they need to make informed decisions. We should be conscious of the suffering that comes with most genetic diseases. I watched a documentary recently based in a hospital in Newcastle, which is very local to me, and it really touched me. It followed several children who were in hospital for various different reasons, but one particular boy’s story, who was a sufferer of CF, particularly struck me. This young boy was about 12 and wanted to go to a sleepover at a friends house for his friends birthday, but because of his disease, was unable to sleep without oxygen at home and his friend’s mum didn’t want the responsibility of regulating and monitoring his oxygen through the night. So during his stay in hospital, he worked extra hard and attended physio sessions in order to try to clear his lungs enough, and gain enough fitness to be able to go an entire night with no oxygen. I, personally, had never thought about not being able to sleep without a machine being attached to me, let alone the things that go with that, such as the fact that he couldn’t stay at friends’ houses. As a child who grew up healthy and was always able to do everything I wanted to in terms of physical and mental ability, I can’t imagine living life as a young boy the way he has to. But this is completely unnecessary! We could reduce the risks of people being affected by these issues fairly easily if we were to introduce a simple awareness program to the population.

Of course there are lots of flaws in this idea, as there are in all new concepts, but I really do feel this is something that we could consider, or at least offer to potential parents to reduce the suffering of their offspring.

Diagnosis and Budgeting

 I have attended several talks in the past few weeks on various topics but all of these seem to have had one thing in common; the fact that budgets and quotas play a huge part in the role of a doctor.

The first in this series of talks was a talk given to my school’s medical society by Dr Greg Rubin from Durham University about the early diagnosis of cancer, in particular the role of GPs in the process. He stated that a quarter of cases of cancer are diagnosed in A&E and also that in terms of survival rates after diagnosis, the UK looks pretty bad compared with other countries including Denmark, the USA and Australia. The UK currently has 28 cancer care networks but this doesn’t seem to be enough. We were able to ponder the importance of a multitude of factors influencing the chances of survival of a cancer patient but the winner was always going to be the time of diagnosis. So how can the NHS ensure that diagnosis takes place early enough?

A few factors were mentioned:

-The ability of patients to recall significant symptoms that are often unknown, such as a persistent cough. Failure to mention something that may seem trivial to a patient due to a lack of knowledge on the topic could mean a doctor misses a diagnosis, which could save a life. This highlights the importance of awareness of common symptoms of various cancers. It becomes slightly difficult, however, to fully educate the population when we consider that there is a fine line between education for the good of the population and education that could cause panic and be seen as scaremongering. For example, the last thing busy, overprescribed, understaffed hospitals need is Mrs Smith who has had a cough for two days and is convinced she has cancer walking into their emergency department demanding tests. We also need to think about the fact that education of an entire population is not going to be cheap and can the NHS afford all of the campaigns that would be necessary to publicise the unknown symptoms of less common cancers? Should cost come before the health and awareness of the population? Would it in fact save money to educate people and thus reduce the number of emergency cancer cases seen by catching it earlier?

-This brings us nicely to the second factor; the early diagnosis of cancer. Of course identifying cancer in patients early will increase their chances of survival. So what is involved in diagnosing cancer in a patient? I attended Mini Medical School at Newcastle University where the topic was ‘Diagnosis-art, science or hunch?’ and the diagnostic process was also touched upon in the lecture given by Dr Rubin. There are several steps to diagnosing a patient, most of which do not directly involve a doctor. Before the doctor even sees the patient, the patient has the appraisal phase, where they decide that they are ill and need treatment. This requires knowledge of what it means to be ill. Of course there is the medical model of illness, where one has a disease and is suffering from symptoms. Then there is the general state of health, both mental and physical whereby general wellbeing would be defined as healthy. So the patient decides that they are unhealthy but does not necessarily head straight to the GP but might first consult a friend, member of their family or self medicate, for example just take a paracetatmol. But this doesn’t work so they decide that they need to go to the doctor. They may not give the doctor all of the relevant information and are generally worried about the outcome of the appointment, so it's fair to say that the doctor has a difficult job ahead of them. Not only do they have the responsibility of this person's health being entrusted to them, they also have the healthcare systems rep to uphold, especially after incidents such as the MidStaffs enquiry. But added to all of that, they have budgets to stick to. Does this put them off taking potentially necessary tests? Would they take a test if they had unlimited money to do so? Would they refer more people to specialists if there wasn't a huge waiting list?

The main question we need to ask in these cases is is the quality of care restricted by a lack of resources? And the obvious answer is yes but more importantly, what can we do about it?