Science

Million dollar question: would you ever get your genome sequenced?

The human genome

The human genome (Photo credit: bram_souffreau)

Every day I come across articles talking about research which indicates that a certain gene is linked to a particular type of cancer. For example, scientists have now discovered that there could be a completely different mechanism of cancer causing development, as rare mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer. Typically though, the genes BRCA1 and BRCA2 are known to increase risk of breast cancer, and generally, mutated genes are passed from mother to child. In other articles, there are statistics that come out highlighting how males are three times more likely to die from cancer than women simply because there isn’t enough money being pumped in, to aid research in male specific cancer types, or that there’s a lack of knowledge in spotting the signs and symptoms early on. However, there are scientific breakthroughs with new drugs being discovered that constantly remind us that science is advancing. Scientists are now predicting that in the next decade or so, cancer patients will know the exact genetic profile of their disease. That will lead to drug treatments that are specific to target the mutation carried within a tumour. Medicine truly revolutionised. This is all down to the ability to rapidly sequence DNA.

It got me thinking how in a couple of years, we would apparently be able to pick up a kit to allow us to sequence our DNA. That is pretty big because there are people out there who are suffering from symptoms but there is no name for the mystery disease and it’s simply given a letter. It’s also important because as a female who missed out on the ovarian cancer jab when the national immunisation programme started in the UK, knowing whether I carry the gene for it would be powerful knowledge mostly because ovarian cancer is known as the ‘silent killer.’  In reality, what use if any would it be to know about my DNA profile? Would you want your genome sequenced? The human genome makes us. As a living organism, it contains all the biological information and instructions needed to build, run and maintain us. As we reproduce, we pass that information onto the next generation. The genome is made up of nucleotides which code for a sequence of amino acids that makes proteins. Those proteins then make sure that cells function and determines how we behave and whether we are more likely to develop genetic disorders or inherit diseases. So all in all, having that ‘file’ would be gold.

Most people are already spending a lot of money getting their DNA sequenced. The first thing that comes to my mind as a healthy individual at present is would the stress of knowing you and your partner have the faulty CFTR gene for cystic fibrosis make things worse? I always go by:

Genotype (G) + environment (E) → phenotype (P)

So that might actually increase the risk of disease and trigger it. In addition, we have all that information but do we have the right tools and the knowledge to make use of it, and what do we do with all that information? Can other people get hands on that and misuse it? Also, do we really know that gene ‘Y’ is the root cause for disorder ‘X’? Could other genes be interacting with each other and that discovery isn’t made? Fact is, mis-interpretations and lack of precision could lead to information being conveyed that might not even be true. Too much analysing of anything isn’t great either. In addition, there are people out there who are in dire need of medical help and advice. Healthy individuals having further tests and screening procedures could mean that for someone whose body is really in need of medical attention, time further runs out and the taxpayer’s money is wasted unnecessarily.

However, there are many positive implications of having your DNA sequenced. Knowing that you are susceptible to a disease would mean swift diagnosis, undertaking preventative measures and having a targeted treatment plan. Also, for couples planning to start a family, knowing whether their baby will be healthy or not will allow them to make a decision as to whether they would want the pregnancy to proceed.

On the whole, I personally would rather not have my genome sequenced. I’m not overly curious as to why my right eyebrow raises at particular times, or why I am such a gifted writer…..

Put it this way, your body is your temple so please treat it accordingly.

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