The Economist March 14th, 2020 pp3-4 Technology Quarterly|Personalised medicine
“Populations of One” “Medicine is getting to grips with the fact that everyone is an individual, says Natasha Loder”
Our genes are remarkably similar from one person to another yet everyone's individual genome nonetheless has unique variations. These variations can confer a spectrum of disease susceptibility including psychological disorders, cancer, dementias and others. Besides overt disease, we also express gene variants that regulate how we metabolize drug, how we digest some foods and how we benefit or not from certain forms of exercise.
“Each of the 7.5bn human genomes sharing the planet is unique”. Such diversity, better understood due to the human genome project, is complicating what has previously been “a one-size-fits-all-approach” to medicine. Layering this genetic information with medical history, family medical history, blood test data and imaging results etc. equates to knowing “about propensities to disease well before any symptoms show up”.
Up until just recently, each of the most obvious genetic diseases had been identified but were relatively rare-affecting 1/2000 live births. Today, more than 6,000 different genetic diseases have been elucidated. Again, each being rare but when considered in aggregate the likelihood of “suffering from a rare genetic disease at some point” is estimated at 1/17 (U.K. Data).
Medical researchers, studying large sequencing databases, are now concluding that many gene variants and environmental factors in combination are responsible for complex disorders like diabetes, cardiovascular disease, neurological disorders and cancer. It is “early days” but individual risk scores, for specific diseases, are now being calculated. These scores are based on combining gene variants proved as being linked, at least in a perceptible way, to a specific disease or diseases. The more variants associated with a disease, the higher your Risk Score and the higher the probability of eventually developing disease. Besides predicting liklihood of disease, these Risk Scorce will someday allow caregivers to better customize disease prevention and treatment plans.
As the molecular and cellular mechanisms of disease are better understood, therapies will target vunerable steps in the disease process.