Your individual health map is locked inside your genes. And now doctors have the key. This could usher in a whole new age of preventative medicine.
We are at the beginning of a new dawn in healthcare solutions. The one-size-fits- all model has been proven to be insufficient in medicine due to the many variations of each disease, and the differences in each of our genetic makeup.
Personalised medicine allows patients to receive the most appropriate medical treatment dependent on their needs and characteristics. This sounds like a fairly basic concept, but the methods of personalisation are becoming ever more technologically advanced.
The US Food and Drug Administration’s (FDA) commissioner Margaret Hamburg explains: “The concept of personalised medicine is not new: clinicians have long observed that patients with similar symptoms may have different illnesses, with different causes; and similarly, that medical interventions may work well in some patients with a disease but not in others with apparently the same disease.
“What is new is that advances in a wide range of fields from genomics to medical imaging to regenerative medicine, along with increased computational power and the advent of mobile and wireless capability and other technologies, are allowing patients to be treated and monitored more precisely and effectively and in ways that better meet their individual needs.”
Fascinating work is being done using a patient’s individual biology as a basis for personalisation. Pharmacogenomics is the study of genetic characteristics alongside drug responses. Since patients’ responses to drugs vary depending on their makeup, pharmacogenomics allows us to assess which medicine is most suited to which genotype. Advances in pharmacogenomics have made way for the development of tailor-made medicines for those suffering from the likes of cancer and HIV/AIDS.
Genomics, the study of a person’s set of genes, is especially important to the future of cancer treatments since the disease is strongly linked to changes in genome (an organism’s complete genetic material). What’s more, it is now understood that no- one’s cancer is the same. Cancer Research UK’s chief clinician Peter Johnson called personalised medicine “the most exciting change in cancer treatment since the invention of chemotherapy’’.
Genomics England explained: “Cancer begins because of changes in genes within what was a normal cell. Although a cancer starts with the same DNA as the patient, it develops mutations or changes, which enable the tumour to grow and spread. By taking DNA from the tumour and DNA from the patient’s normal cells and comparing them, the precise changes are detected. Knowing and understanding them strongly indicates which treatments will be the most effective.”
To tailor medicine to your genome, sequencing – the reading of a genome – needs to take place. The first sequencing took 13 years; now it can be done in just one day. The sequencing is vital in understanding the link between disease and genetic variation; around 99.8 per cent of humans’ genomes are shared, but the remaining 0.2 per cent varies immensely.
The 100,000 Genome Project
The UK is at the forefront of the technology, and the 100,000 Genome Project will sequence 100,000 genomes from around 70,000 people with cancer and rare diseases, to improve understanding and help create new effective treatments for more people.
However, personalised medicine goes beyond cancer too. Rare diseases are being included in the 100,000 Genome Project as around 80 per cent of them are genomic; understanding the genome sequences of those with such diseases could identify causes and help in developing new specific treatments.
There are even genomic ‘molecular laboratories’ now in use, the size of a shoebox, which can look at your genes and assess which drugs are best for you in around 15 minutes.
Biomedical research is innovating and developing fast. According to the US-based Personalized Medicine Coalition (PMC), in 2006 there were just 13 prominent examples of personalised medicine drugs, treatments and diagnostics products available; this number rose to 113 in 2014. In 2001 it cost $300,000,000 to sequence a human genome; in 2014 it cost just $1,000.
If personalised medicine continues to grow at such a rate, the impact could be huge. PMC estimates that there would be a 34 per cent reduction in chemotherapy use if women with breast cancer received a genetic test of their tumor before treatment, while 17,000 strokes could be prevented each year if a genetic test were used to properly dose warfarin, a blood thinner.
Developments could improve quality of life, as well as having the potential to greatly reduce healthcare costs worldwide. It would solve a number of costly inefficiencies, like hospitalisations caused by adverse drug reactions and late diagnoses.
From reaction to prevention
The PMC believes great potential exists within personalised medicine to shift from treatments that react, to those that prevent. In its study “The Case For Personalised Medicine”, it explains: “Personalised medicine introduces the ability to use molecular markers that signal disease risk or presence before clinical signs and symptoms appear, and it offers the opportunity to focus on prevention and early intervention rather than on reaction at advanced stages of disease. In many areas, the clinical interventions can be life saving.
“For example, women with certain BRCA1 or BRCA2 gene variations have up to an 85 per cent lifetime chance of developing breast cancer, compared with a 13 per cent chance among the general female population. These women also have up to a 60 per cent chance of developing ovarian cancer, compared with a 1.7 per cent chance among the general female population. The BRCA1 and BRCA2 genetic test can guide preventive measures, such as increased frequency of mammography, prophylactic surgery, and chemoprevention.”
This key shift, from reaction to prevention, is representative of the staggering potential of personalised medicine. The transformation of healthcare has begun.
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