As we collect more genetic data, medical research is moving in the direction of personalized medicine – tailoring pharmaceutical interventions and lifestyle prescriptions specifically to an individual’s genetic profile for increased efficacy while decreasing side effects.
Early 2000s scientists initiated Mass General Brigham Personalized Medicine as an effort to tap genomic information for improved health care – long before “genomics” became a widely recognized term. Their dedication and recognition of personalized medicine’s potential marked their commitment and realization of it as a reality.
Personalized medicine’s hallmark application is tailoring pharmaceutical drugs specifically to individuals who possess genetic variants linked with specific conditions or illnesses. Examples of personalized medicine’s use in this regard include targeted therapies marketed for treating cancer and monoclonal antibodies approved for treating familial hypercholesterolemia, among other ailments.
However, the concept of personalized medicine encompasses more than individualised drug therapy; it includes surveillance and prevention measures as well. It is crucial to distinguish these three applications of genomics because each has a distinctly different impact on ethics and social values.
Owing to genomics’ rapid evolution, personalized medicine implementation remains challenging. One major obstacle stems from its promise of personalized therapy for individual patients but there may still be other factors contributing to disease that do not correlate directly to specific gene mutations or phenotypes.
As well, there is an increasing need to comprehend all of the genetic variation present within populations; to do this requires broad-scale genetic investigation using genomic wide sequencing (WGS). WGS can detect non-coding variants that alter gene regulation as well as uncover new disease mechanisms.
Therapeutics that take advantage of individual genetic traits to increase efficacy and minimize side effects is also an issue, such as small interfering RNA-targeted therapies which have proven ten times more effective than industry average in treating various cancers.
Of course, cutting-edge therapies are often prohibitively expensive for many patients and may not be covered by insurance policies. Former FDA Commissioner Scott Gottlieb mentioned this during his keynote session at the conference and specifically pointed out how this was true of therapies that specifically target specific mutations or molecular pathways involved in disease processes (i.e. immunotherapy).
Even with its inherent challenges, personalized medicine appears to have a promising future. Rebranding personalized medicine as precision healthcare, precision health, and wellness genomics emphasizes professional judgement while simultaneously encouraging individuals to take more responsibility in making healthcare decisions themselves; thus advancing genomics as an invaluable tool to advance global healthcare. Hannah is an award-winning medical and life sciences writer from Lancaster University UK with an MA in Science from Lancaster.
