Routine DNA tests predicting disease risk

Hi everyone!

If you live in England you may be aware that the NHS has just revealed that they are offering to perform DNA tests on patients, if they agree to provide this information to scientists. Knowledge on genes will help better understanding on human diseases and the genetics involved in these.

The NHS already performs DNA analysis for seriously ill patients suffering from genetic conditions and cancer. Indeed, some children may be born and screened for cytogenetic abnormalities after birth. Similarly, patients who are at a high risk of passing on or developing rare genetic diseases already have these genomic checks. However, this new project proposes expanding their genomic investigations into healthy individuals too.

You may be wondering how this would all be tested. Well, it’s all quite simple – from a blood sample. Scientists can then use this blood to look for small changes or errors in your DNA. This is typically performed through RNA-sequencing, where scientists can directly sequence messenger RNA in cells (RNA carries genetic information and plays an essential role in expression of genes).

Mapping your genome is useful even if you at present don’t have any symptoms of illness. It can predict the risk of a patient developing conditions like cancer, dementia or Alzheimer’s disease. However, this could potentially make people panic unnecessarily about their health.

Put yourself in a patient’s shoes who has just told they might develop Alzheimer’s… Would you panic and make yourself ill worrying about living your life whilst you are still healthy?

Remember that these tests can only show disease risk.

Now how would you then feel if you don’t actually develop that disease in 10 years? Angry? Relieved? Frustrated? Let down? Happy? It’s a bit of a complex situation.

A solution to this could be performing the genomics test as part of a regular doctor’s trip, but in order to actually receive results, patients could be encouraged to pay. This would eliminate the problem of some people not wanting to know what their disease risk factors are, as well as decreasing the financial burden on the NHS. However, many patients may query if this test is therefore necessary, especially if they themselves do not directly see benefits from this. Some patients may even shy away if they think that the knowledge that they may develop a disease could potentially affect their health insurance.

The biggest benefit of this project would be to help scientists study disease. Understanding the genetic basis behind human disease is very useful as it can help direct early diagnosis and improve patients’ quality of life. Studying genomics across populations helps to make connections with certain individuals, lifestyles, locations in the world, etc. and can therefore be used to predict disease epidemiology. It could even be expanded to help solve pandemics or epidemics in the future.

The project will be led by Genomic England, a developing company which is part of the NHS. It is not yet known exactly how much this service will cost, however, it is following the completion of the Human Genome Project in 2003 and the 100,000 Genomes Project in December 2018, both of which cost over £2 billion each, so it can be assumed to cost even more.

In order to make full advantage of this form of information, genomics need large data sets. Therefore, national gene information should be incorporated with international, to compare gene patterns and risk across the world. Would however this be something that other countries would be interested in sharing? With the current economic climate, I am not sure that this could currently be agreed upon.

I would be really interested to see what your thoughts are on this. Would you be interested to learn about your risk factor for developing diseases or do you prefer to remain in the dark? Would you not mind having a small blood test in favour of really helping scientists? Let me know in the comments!

Until next time,

M x

Additional Links
See the full BBC article HERE
For more information on the importance of genetic testing see HERE



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