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Feb 24 2022

The Genome Test That Could Save Your Life

An Introduction to Whole Genome Sequencing & Why We are Still Behind

Genetic testing services


Why the CEO of Apple Invested $100,000 in the test

When Steve Jobs first had his genomes sequenced, he paid $100,000 for the test[1]. It is now slowly becoming available to the public for around only £3,000 through a doctor. This test provides not only clinically relevant findings on over 1,200 conditions, but details on drug sensitivities, carrier status and more to discuss with your doctor.

Steve Jobs was one of the first 20 people in the world to have this done. It was to help him try and beat cancer; he was between 2 treatments and this simple saliva test could indicate (by sequencing his genomes) which treatment would be most likely to work on him based on his genetics. What would he respond to best in terms of medication? There’s a horrifying statistic out there that over 50% cancer drugs don’t work on the patient[1]a – so why not be proactive and find out which is most likely to work? Wouldn’t we save more lives?

While hereditary health risks are not the full story, they can provide so much helpful information to a patient’s family physician, and help them take preventive steps rather than reacting when problems occur (when it is often too late). Personalised medicine is nothing new, the world recognizes the profound effect it is going to have, and concierge doctors have promptly incorporated this into their patients’ memberships. Steve Jobs had said “I will either be the first to outrun such a cancer or the last to die from it.”


The “Jolie” Gene – Why Angelina Jolie Made Headlines

Following the news last week where the BBC discussed having an “Angelina Jolie” style test for all – the question arose, what is the future of genome testing? Angelina Jolie famously had her BRCA1/2 test, which measures mutations in a specific type of gene, that can hugely raise likelihood of developing breast and ovarian cancer in your lifetime. She decided with her doctor to undergo a double mastectomy based on her results, as she was at incredibly high risk. This test only costs around £600 now, but most of the world’s medical professionals are still incredibly far behind and unaware of such breakthroughs.


Delving Deeper: A Background

Genetic Testing started in the 19th Century with Mendel’s classic pea experiment which established the fundamental laws of inheritance. Modern genomics explore the whole genome, the functions of the genes as well as their interactions, and the technology that is required to achieve this scientific breakthrough.[2]

The Human Genome Project (HGP) was a ground-breaking discovery in the modern world, taking 13 years to complete and cost £2 billion.[3]  HGP sequenced DNA pooled from a range of individuals to produce a reference genome. Every genome is unique just like fingerprints.[4] However, with the rapid progress of science, it is now possible for individuals to have their genome sequenced, called personal genomics.

Although genetic testing is a new phenomenon practised mainly by concierge physicians who focus on proactive measures, there is strong belief that one day it will become a pivotal key in preventive medicine. Genomic testing provides insights that could optimise our health on a whole different level to improving our fitness, diet and overall health.[5]


Why Carry out Genomic Testing?

By sequencing individual’s genomes, a large amount of pivotal information concerning all aspects of that individual’s physiology, ranging from susceptibility to certain diseases to the way they respond to specific drugs, can be unveiled.[6]

One important area that genomic testing can help is in pharmacogenomics (tailoring drug treatments to match an individual’s genetic makeup, more like “personalised medicine”). This genetic information is extremely valuable when doctors decide on the most appropriate drug to prescribe as it helps doctors to ensure that the medication has the maximum effect while minimizing any possible side effects that could affect medication adherence.

Another pivotal area that genomic testing can help is in predicting a genetic disease. By exploring an individual’s genome, it is possible to identify any genetic variants (letter or region of a gene different across individuals) which may increase the likelihood of an individual having a genetic disease later on in life. For instance, as in Jolie’s case, genomic testing can tell if a woman carries the BRCA1 breast cancer gene, and if so how much the probability of her developing breast cancer throughout her life.[7] This provides individuals the option of taking preventative measures, such as having a healthier lifestyle, and in this case possible removing the breast tissue, preventing cancer.


Family planning & Genome Sequencing

Genomic testing is also extremely useful in advising couples wanting to have children. For instance, it is possible to tell whether one of the parents is a carrier of a genetic disorder like cystic fibrosis (common genetic condition where the lungs and digestive system become clogged with sticky, thick mucus). If their partner is also a carrier of that genetic disorder, the chances that their child has the disorder increase dramatically. By knowing the risk of passing a genetic disorders to their child, parents may decide on using other ways of having a baby such as IVF (in vitro fertilization) where embryos can be screened for any possible genetic disorders before being implanted in the womb.


Are we too backwards?

In essence, yes. Why is it taking so long to be integrated into European Healthcare (at least privately?)

The problem lies in the model of private healthcare delivery which does not encourage doctors to get to the roots of problems and prevent them. After all, why would they do so if they benefit each time you come back and are sick? The study of medicine needs to change too; and move beyond old-fashioned ways of thinking. If there is even a slight chance we can take steps to prevent a crisis in future or delay its onset, why not take them? The strong patient-physician relationship needs to be there for a physician to care; doctors today are not incentivised or paid to move with the times or innovate with their care; and that is precisely why we are stagnating.


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