A leading testing expert says healthcare is heading for a revolution. Personal genotyping, sequencing our DNA and understanding its complexity will lead to precision medicine tailored for everyone.
This will soon be the basis of many treatments, from high cholesterol to cancer, empowering patients and doctors to make better health decisions.
Harnessing the combined powers of science, data and medicine, healthcare in the UK is set to change dramatically over the next few years based on our genetic fabric.
A leading health testing expert says recent technological leaps have brought us from studying a single DNA strand in the 1950s to recognising the patterns, interactions and behaviours of almost 3 billion individual DNA units in each of the trillions of cells in the human body.
Dr Avinash Hari Narayanan (MBChB), clinical lead at London Medical Laboratory, says: “The idea of tailoring isn’t new – you get the best “fit” with things bespoke for you, based on your physique, preferences and predispositions.”
“This “tailoring” in medicine has long been envisioned as the holy grail in highly personalised and individualised treatments, resulting in the best potential outcomes. The dream of precision medicine is becoming a reality thanks to dramatic new developments in DNA sequencing.”
“Twenty years after Watson, Crick, and Franklin discovered the DNA structure in 1953, Gilbert and Sanger introduced the sequencing methods. Now we are on the brink of precision medicines, based on our unique DNA profiles, becoming the basis of perhaps most medical treatments.”
“Precision medicine, as a concept, is not new, but its emergence as a real holistic approach to treating patients will be a powerful tool to solve various health problems, from those as common as high cholesterol to those as severe as cancer. Not only can it provide us with treatment-relevant information, it can also inform patients on various health-related topics, from disease risk to medication response to sleep behaviours and even personality traits.
“Precision medicine is an evolving approach to healthcare that tailors medical decisions to the specific genetic composition of the individual. It relies heavily on our understanding of our genetic information, its patterns and unique factors that can influence our health. Personal genotyping is the key technology driving the development of precision medicine, which provides large volumes of highly detailed genetic information that can be analysed, probed and understood.”
“Genotyping, achieved by DNA sequencing, was once a laborious and highly expensive scientific process. The technique has come on by leaps and bounds since the 1970s, from requiring complex laboratory equipment and set-ups to a simple processing chip and sequencing machine.”
“Personal genotyping is done by sequencing an individual’s DNA from saliva, sputum or blood. This allows us to study individual genes or the genome, the sum of all genetic information obtained. The technique produces a large volume of data, which provides a detailed map of an individual’s genetic makeup.”
“Though we may have many similar features, all of us will generate a highly individualised and unique genetic map. Precision medicine relies on these maps to tailor healthcare decisions based on predispositions and susceptibilities.”
“The idea of individual genes influencing our responses to treatments or risk factors isn’t new. However, considering the genetic variation in individuals, knowing how exactly these can occur is breathtaking. A classic example of this is the acetylation status of an individual. In other words, how a specific enzyme in the body influences how we process different substances, such as medication. Up to 50% of people in the UK may process specific medications differently because of their genetics.”
“Using genetic information this way, pharmacogenomics (PGx) makes it possible to determine the optimal patient treatment tailored to each unique genetic profile. However, this information is currently investigational and should never form the sole basis of treatment. That’s because pharmacogenomics is only one of several factors, such as age, sex, ethnicity and medical history, that determines a patient’s response to medication.”
The secret of our health is in our genes
“Fascinatingly, PGx is just the tip of the iceberg. DNA testing can identify a huge number of other conditions. These include potential allergies, addictions, and various ailments and illnesses, from sleep disorders to cardiac problems and diabetes to bone health. It seems the secret of our health is in our genes.”
“For example, if an individual has a genetic predisposition to a certain type of cancer, personal genotyping can enable healthcare providers to develop a more targeted screening programme that identifies the disease at an early stage, when it is more treatable. Similarly, personal genotyping can help identify individuals at increased risk of heart disease, enabling healthcare providers to develop more effective prevention and treatment strategies.”
“Personal genotyping can also enable researchers to identify new genetic targets for drug development. For example, if a genetic mutation is associated with a certain type of cancer, researchers can develop drugs that specifically target that mutation, potentially leading to more effective treatments with fewer side effects. This aspect of precision medicine remains highly experimental but will likely come into clinical practice.”
” A developing aspect of genotyping allows us to understand our personality and behavioural traits from intrinsic genetic patterns. This is a highly interesting area of evolving research, but its use in practice remains trivial. Data analysis has attempted to map genetic patterns to personality traits such as openness, extraversion, conscientiousness, agreeableness and even neuroticism, providing a curious view into our psyches.”
“However, it is important to note that genetics does not solely influence personality and behaviour. They are also strongly determined by life experiences, upbringing, intrinsic neurological and cognitive traits and environmental factors.”
Profiling concerns
“Despite the many benefits offered by personal genotyping, there are also some concerns about its use in healthcare. One of the main concerns is the risk that individuals could receive information about their genetic makeup that they may not fully understand or be able to act upon.”
“For example, if a genetic predisposition to a certain disease is identified, early information, though immensely valuable, may not help in situations where there is no effective way to modify this risk, for example, where there are no preventative measures or treatments.”
“Some genetic patterns, such as harmful mutations in the BRCA1 or BRCA2 “BReast CAncer” genes, are known to lead to breast and/or ovarian cancer. Individuals can significantly alter their risk of contracting the disease in these cases based on appropriate medical review and decisions. That said, this may not be the case for other conditions.”
“For example, Huntington’s Disease, a heritable mutation, is non-modifiable and life-limiting. It is vital for individuals to discuss the benefit and risks of genotyping with a doctor to have a balanced perspective before having the test.”
“Despite these concerns, the increasing use of genotyping tests will likely continue over coming years. As technology becomes more affordable and accessible, genotyping will likely go hand in hand with conventional and precision medicine. Though its exact and full implications are unclear, genotyping ultimately aims to improve the overall health and well-being of individuals and populations alike.”
“Indeed, the first fruits of DNA-based investigations are already here. London Medical Laboratory’s new DNA Genotype Profile Test is a simple, at-home saliva test kit. This once-in-a-lifetime test gives over 300 reports: providing insights into nutrition, traits, fitness, and health from our genetic blueprint.”
“A single saliva sample allows each of us to know more about ourselves. It facilitates the creation of personalised wellness products and plans, so we can make better decisions for a healthier future.”
“The saliva test can be taken at home through the post or at one of the many drop-in clinics that offer these tests across London and nationwide in over 95 selected pharmacies and health stores.”
