Genetics is the basis for all living things. It is the foundation and building blocks that
produce an organism. The genetics of a person can tell scientists about how they function,
their likelihood of developing a disease and how the individual could respond to different
drugs. Whole genome sequencing and genetic analysis is being used more in healthcare
every day in diagnosis and treatment, ultimately increasing the chance of a better outcome
Every 2 minutes someone is diagnosed with cancer in the UK. Although advances in
medicine have increased cancer survival rates over the last 20 years, the UK is falling behind
compared to other countries, such as Norway and Australia. To improve survival rates, the
cancer needs to be detected earlier so that surgery, chemoradiation therapy or simpler
methods can cure it. A new method for cancer detection is to test circulating tumour DNA
(ctDNA), which is fragments of DNA released from a tumour that circulate in the blood.
Testing for ctDNA can provide genetic information about the cancer and the patient’s
treatment can be specifically designed to work for their tumour. AstraZeneca is currently
researching how to optimize this approach and if it could be used to detect if patients will
relapse early. For example, ctDNA was used to diagnose specific mutations within the
epidermal growth factor receptor (EGFR) in patients that have non-small cell lung cancer,
allowing effective treatments to be prescribed, such as Tyrosine Kinase Inhibitors (TKIs). The
type of genetic testing on offer prior to this new approach was a biopsy, an invasive
procedure, and fails 30% of the time. The simple blood test is more accessible and very
easy. The use of ctDNA is a personalised healthcare method that will increase survival rates,
proving that the use of genetics within healthcare will revolutionise drug development and
give more patients a better chance. Unfortunately, this revolutionary diagnostic testing is
not used throughout the NHS and some patients still miss out. Lung cancer is the second
most common cancer in the UK and analysis of ctDNA will improve the amounts of lung
cancer survivors. Hopefully, this genetic testing will be used across the NHS soon and the
UK’s cancer survival rates will overtake other countries.
Personalised healthcare is an approach that will specifically target therapies to patients to
enable better treatment of a disease. The concept takes into account the factors that make
individuals different which include their lifestyle, diet, environment and genetic profile.
Another example is using whole genome sequencing to detect a risk of developing a disease
and could also aid researchers to tailor a therapeutic that will definitely work for that
patient. Knowing the genetics of the patient may mean that a simple dietary change could
help the disease and decrease the amount of medication that the patient takes, leading to
easier and cheaper treatment for the NHS.
This short post clearly demonstrates that more types of genetic testing should be developed
for other types of cancers and diseases to improve the healthcare of the UK patients.
Written By: Lauryn Buckley-Benbow