Data from more than 747,000 participants has been made available to scientists and doctors, creating an unparalleled genomic and electronic health record database “powering next-generation discoveries” in so-called “precision medicine”, the National Institutes of Health (NIH), the US medical research agency, has announced.
What is it?
Precision medicine, as defined by the NIH’s National Human Genome Research Institute, is an “innovative approach that uses information about an individual’s genomic, environmental and lifestyle information to guide decisions related to their medical management”.
Generally considered analogous to “personalised medicine” or “individualised medicine”, its goal is “to provide a more precise approach for the prevention, diagnosis and treatment of disease”.
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What are the obstacles?
In theory, “therapies targeted to a person’s genetic make-up should be more effective and have fewer side effects”, said the BBC’s David Cox. But in practice, personalised medicine has in the past proved “erratic and expensive”. Another problem has long been that it “requires people to trust governments and companies with their genomic data, while the regulatory environment around medicines is ill-equipped to cope with therapies that are designed for just one person”.
That is the “paradox at the heart of precision medicine,” said NIH director Jay Bhattacharya. “To tailor treatments to individuals, you actually need very large populations to uncover the patterns that connect genetics, lifestyle, and the environment to health outcomes.”
What conditions could benefit from it?
NIH’s All of Us data has already fuelled more than 1,400 peer-reviewed publications across the US and around the world. Recent related breakthroughs range from a first-of-its-kind clinical genetic test predicting inherited risk of heart disease to the development of a low-cost prostate cancer risk model.
In a small-scale trial in California, people with early-stage dementia were given bespoke treatment plans targeting their personal nutritional deficiencies, ongoing infections and environmental exposures, which saw their symptoms improve.
A new “groundbreaking” genomic test could see millions of women with breast cancer spared debilitating chemotherapy, following the results of a trial that could “transform healthcare guidelines worldwide”, said The Guardian.
And in April, The New York Times reported on the story of KJ Muldoon, born in 2024 with an incredibly rare enzyme deficiency. In the space of just six months, a team at Children’s Hospital of Philadelphia and Penn Medicine designed a personalised therapy that was able to correct the single misspelled letter in his DNA using gene-editing technology. It was perhaps the “most important medical story of the decade”, said the paper.
AI modelling has also made analysis of huge datasets cheaper and more efficient. A recent study in the Annals of Medicine and Surgery suggests this is already having an impact on a range of critical specialities, including cardiology, infectious diseases, and oncology where machine learning models are able to analyse new sets of biomarkers so enabling “ultra-targeted therapies that strike tumour-specific mutations with remarkable precision”.
Even in psychiatry, AI is increasingly being used to predict treatment resistance for antidepressants well in advance. “This is the future of tailored, bespoke medicine,” said Forbes.
