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December 1, 2020

Hyper-Personalised Medicine: A New Way Forward?

While the world of medicine has come a long way in identifying, treating, and curing diseases and disorders, there are still many we just don’t know how to address.

Some people are born with fatal diseases that are so rare, there is currently no treatment for them – but there may still be hope. Hyper-personalised medicine is a new avenue that medical professionals are exploring to treat these rare diseases, tailoring drugs to a person’s genes to fix specific, often individual problems.

In a 2017 study, professor of medicine Jason Vassy discovered that, of fifty participants who had their DNA screened, 20% discovered rare, life-threatening conditions that they needed to address immediately. DNA screening is important not only for individuals: the combined aggregate of genomes screened are helpful in a myriad of ways, providing opportunities for the identification and prevention of diseases in larger groups of people. Ultimately, though, it can also lead to developments in hyper-personalised medicine, whereby a single person’s genome can tell medical professionals precisely what drugs in what doses are most suitable for that individual. Incredibly, this style of medicine is already being used to help people with previously untreatable diseases – like Mila Makovec in the United States.

Mila was diagnosed with a rare form of Batten disease in 2016, a condition that results in seizures and a loss of sight and movement. She was six at this time, and her mother desperately sought a treatment when none was available, eventually finding Dr. Timothy Yu at Boston Children’s Hospital. Within a year, Dr. Yu developed a treatment that was the first ever to be FDA-approved for a single person. Named Milasen after the young girl, the drug has slowed some symptoms and completely stopped others, and although the future remains uncertain for Mila, her quality of life has improved greatly – all because of a drug that, in all likelihood, would be useless to anyone else in the world. The people involved in Mila’s case hope that it can kickstart a new movement in medicine, providing treatment for children regardless of the rarity of their diseases – an ideal everyone can get behind.

However, a major stumbling block for hyper-personalised medicine is its cost. While it’s unknown how much money Mila’s treatment took to make, the fact that it all came down to a single error in one copy of her CLN7 gene, which helps to create a specific protein, demonstrates the sheer complexity of the endeavour. Other people with Batten disease may also have a single misread gene, but it might not be the same one, and the drug that worked for Mila may not work for others with the same disease. The very nature of hyper-personalisation means that nothing can be widely effective; mass production is not reserved solely for consumer items like clothing or toys. And as we’re all surely aware, anything that is personalised, tailored, or custom-made is always significantly more expensive than widely available products, raising important questions about the future availability of hyper-personalised medicine.

Nevertheless, the apparent success of Mila’s treatment provides hope for a lot of families struggling with rare diseases, showing them that there may in fact be a way forward. It remains a matter of time as to whether this style of treatment will become more available, but in the meantime, Casper Magazine is happy to marvel at the incredible science behind it all.

To read more about innovative health solutions, check out our feature on the new Series 6 Apple Watch.

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