#10 Genomic and Personalised Medicine

Personalised medicine could change medication as we know it. Imagine a world where we knew exactly how our body would react to certain treatments. This could reduce costs and speed up the prevention and treatment of disease. The answer is genomics. It can provide the strategy the healthcare needs to improve efficiency and lead to a healthier population.

In one of our previous blog, we spoke about the trust aspect that we, as patients, have with our doctors. We believe in their methods and trust that they’ll be successful. Perhaps there comes a time when their methods are questioned, I know I have. It’s not their methods that need to be questioned though, it’s you and your body that holds the answers. Their techniques have proven successful on a vast majority of cases and for that reason are put into practice. Statistically speaking, this makes sense. For decades, healthcare providers have introduced various methods and treatments based on a trial and error attempt. There is no ‘one size fits all’ method that will suit each individual. Everyone is unique and have inherited differences that set them apart, there are various factors that can account for this. From the DNA of their genetic legacy to the lifestyle they lead or down to the environment they surround themselves in.

What is genomic medicine?

Genomic medicine is the discipline of using treatments and medication based on the genetic information of an individual.[1] In practice, this will give everyone a better chance at understanding their own conditions and their own body. With genetic information, it is easier to understand an organism (you or me). It can inform on the manifestation of a disease or disorder within one’s family. Making it easier to predict potential conditions like asthma or heart diseases or any other genetic disorders that have not been witnessed before in your ancestors. For example, I am the only person in the last three generations of my family (that I know of) to have been diagnosed with asthma so there was no practical way of determining whether I would have it or not until life-threatening signs presented themselves. If untreated, the damages of the condition can leave scarring on the lungs which permanently damages one’s health. I am not saying I currently suffer from permanent damage, but others may. Early detection is key for successful treatment. With the help of genetic information, my parents could have been informed at an early stage and diagnosed me sooner, preventing any suffering and instructing them on the condition and proper treatment. The concept of genomic medicine has been around for decades but putting it into practice needs to become part of the healthcare strategy for the future.

How does it work?

You are unique! It’s not just your personality, your catching eyes or that radiant smile that makes you that way. Each person has a different risk appetite for a disease. The success of medication can also differ from one to another. Ultimately, we are all separate when it comes to the prevention and treatment of disease. Inherited from your parents, your genes define you which gives rise to a need for a personalised medication strategy in the healthcare system.

Informally, reading genes is like reading an instruction manual for telling your body what proteins to make and other tasks the body may need. The genes are described by four different letters, known as bases, that appear in multiple sequences.[2]

They can differ slightly for each person. The variation of these bases can determine the build-up of various proteins, which can often lead to a higher risk for a certain disease or how the body may react to the specific medication. Pharmacogenomics is the study of how genes are affected by particular drugs.[3] To better prescribe, doctors first need to understand our genetic makeup. This can aid in the detection and prevention of the side effects of prescribed drugs. The doctors take a sample of blood, saliva or skin, and send it to the lab for testing. The process for analysing blood is not a key focus, but to know that only a few genes are taken for examination. The doctor will advise what tests to carry out, depending on your situation. The number of tests for diseases at the moment is approximately for 2,500 and still growing.[2] The next stage to this is whole genome sequencing, which determines and constructs the DNA sequence of a person’s genome. Currently, technologies are not capable of reading the full sequences of a human. The process splits the DNA up, puts them into sequences and then combines them in the correct order by using bioinformatic approaches.[4]

Precision Medicine

The breakthroughs and capabilities of genomic medicine have aided in the approach for integrating personalised medicine into mainstream healthcare. Personalised medicine is the concept of tailoring medicine to specific people, given their DNA. This will remove the idea of a trial and error treatment process for patients. Healthcare providers will be able to treat patients and have a better insight into how that person will react to a specific drug and whether it will be successful. Like a coin with two sides, there are also two sides the implementation of personalised medicine.

Pros

• Early diagnosis of conditions and healthcare costs — early detection can aid in focusing on prevention rather than lifetime treatment.
• Faster drug development — aiding in clinical trials.
• Personalised treatment — avoid treatments that won’t work.

Cons

• Healthcare costs — analying genome information and securing is costly
• Cyber-attack and data breaches
• Data storage — A single person’s genome is approximately 1.5 gigabytes, there are about 7.7 billion people on the earth.[6]
• Education — limited number of doctors can understand the genome sequences

I know this blog may have seemed long winded and perhaps vague in areas, but this is only touching the surface for personalised medicine. Genomic medicine and whole genome sequencing are just elements of the personalised medicine strategy. It is currently under research by the private sector companies like pharmaceuticals, but it is important for the governments and healthcare providers to implement this as part of their discipline and align it with future strategies. Early December, the Irish Times published an interesting article claiming that “Ireland leads the way in ‘personalised’ medicine”. [7] This is great news to hear, for such a small country. Indicated are some political issues, but I think Ireland can surpass that. Do you think the breakthrough is there for Ireland?

Daniel,

Team Checkmate

References

1. National Human Genome Research Institute (NHGRI). (2018). What is Genomic Medicine?. [online] Available at: https://www.genome.gov/27552451/what-is-genomic-medicine//genomic-medicine/
2. NIH News in Health. (2013). Personalized Medicine. [online] Available at: https://newsinhealth.nih.gov/2013/12/personalized-medicine
3. Reference, G. (2019). What is pharmacogenomics?. [online] Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/genomicresearch/pharmacogenomics
4. Healio.com. (2019). Whole-Genome Sequencing Methods. [online] Available at: https://www.healio.com/hematology-oncology/learn-genomics/whole-genome-sequencing/whole-genome-sequencing-methods
5. England, N. (2019). NHS England » Personalised medicine. [online] England.nhs.uk. Available at: https://www.england.nhs.uk/healthcare-science/personalisedmedicine/
6. Worldometers.info. (2019). World Population Clock: 7.7 Billion People (2019) — Worldometers. [online] Available at: http://www.worldometers.info/world-population/
7. Murray, M. (2018). Ireland leads the way in ‘personalised’ medicine. [online] The Irish Times. Available at: https://www.irishtimes.com/special-reports/life-sciences/ireland-leads-the-way-in-personalised-medicine-1.3719616