While such tests used to be expensive, they've become much cheaper today. There are also clear international clinical practice guidelines for these tests. Despite this, they're rarely carried out. Evidence as well as awareness is needed to convince regulators, clinicians and payers alike that using genetic information makes a difference to patient outcomes - and this evidence has to be continuously generated. Studies showing the effectiveness and cost-efficiency of this approach would be helpful here.
Women benefit particularly
This calls for committed citizens. I assume that the future of pharmacogenomics and precision medicine will be built on a critical mass of interested and committed stakeholders - including patients and clinicians informed enough to ask for it. The patients here partner closely with physicians and other stakeholders, and are involved in treatment decisions on their own health issues.
Marginalised groups that are currently under-represented in clinical trials would particularly benefit from such cooperation. Women too. There's a whole range of diseases whose incidence among women is the same as, or higher than among men - yet women are outnumbered in clinical trials, as an American study has shown2. This is the case for cardiovascular disease, hepatitis, HIV, chronic kidney disease and digestive diseases.
A cohort as initial spark
Since genetic differences in pharmacogenes account for a quarter to half of an individual's response to medicine, such under-representation could mean that drugs may work less effectively in women than in men. This is why Women's Brain Project3, an organisation advocating women's neurological and mental health, is putting forward a new, personalised approach for women. This requires the active participation of female citizens, whose health data will help to optimise these treatments.
Data is the foundation for patient-centricity and precision medicine. However, as long as data is stuck in "silos" or in organisations not incentivised to share, it will never reach the very recipients that would benefit from it. Cause of Health4, a Swiss initiative in which I'm involved, aims to network this health data. It will build a cohort of people to provide health data, and will address, among other things, questions about pharmacogenomics. The participants will remain the owners of their data and receive a copy of their own pharmacogenomics report. This will empower the individuals to be more involved in their treatment decisions, and to benefit from the advantages of precision medicine and pharmacogenomics, from better treatment options and fewer side effects.
Ernst Hafen wrote this post together with Sonali Quantius.