Personalized Medicine - Developing sustainable ecosystems
PGx between hope and waiting (current status)
In the “Personalized Medicine” section, you have been able to get an impression of how often I have had to fight for my life on countless medications (emergency, ITS, ambulance service) and many anxious moments for my loved ones and myself (and in the end also for doctors and paramedics). ADRs were a constant and dangerous companion even in my childhood/adolescence.
Unfortunately, I remained a lone fighter all those years and couldn't find a doctor who would have competently supported and accompanied me with this PK issue. A really dramatic situation for all the many sufferers who are repeatedly exposed to ADRs. And then everyone was finally talking about the magical and long-awaited words “personalized medicine”. My hopes rose and I jumped for joy. I looked for an analysis provider and, as you can see from the green column in the graphic below, several genes had already been analyzed. But wait, what was THAT, I quickly became disillusioned, because many of the drugs that I had had a life-threatening reaction to were displayed completely incorrectly and marked with an okay or green tick.
This is more than fatal, because if a doctor only relies on the digital tools (with the current status) and does not have any doctor's letters, e.g. if you are an emergency, he will receive a completely wrong signal. A consideration of PGx analyses based on incomplete information (genetic factors, drug interactions, concomitant factors) can then have serious consequences for me, such as ADRs, without a corresponding warning. Or if incorrect recommendations are given in terms of dosage and selection, doctors could adopt them, which could lead to possible over- or underdosing or unnecessary polypharmacy with ADRs or a lack of optimal therapy.
It is important that doctors and patients are aware of these risks and examine the results carefully and critically. This clearly shows that the expansion and development of ecosystems for PGx is essential.
The sudden and unexpected death of my dad on medications he couldn't tolerate, the development of severe diabetes M. with the onset of blindness and leg amputation on hydrochlorothiazide (HCT) in my grandmother (the doctors immediately attributed it to the drug at the time), my uncle's resistance to Unacid and Vancomycin which left him no chance of survival and all the many others I know who have already had to deal with ADRs and resistance made me delve deep into these topics and read countless studies.
I invested many months in analyses, strategic thoughts, e.g. building ecosystems, have been actively involved in a PK forum for many months and have made my own case available to the scientific community there. I read Medical Medium's books and his theses on EBV and pollutants as the cause of all chronic illnesses made me curious, because after all I myself not only suffered from severe CFS with always reactive EBV, but also from severe MCS. I gathered a potential circle of friends/acquaintances with (Hepatis C, cancer or Long Covid - UAWs were familiar to them all) around me and convinced them to go down this path of countless genetic analyses/laboratory parameters with me. It was a huge effort to compare everything, number of copies, deletions, phenotypes, genotypes, microbiome, amino acids and micronutrient status and much more.
In the end, we had incredible aha-effects, because so many similarities were more than “uncanny”.
So I got to work and compiled all the similarities step by step. The left side (the complete red block) is the crucial issue as to why many of the PGX indicators (based on the current state of research) simply cannot be correct. All these factors and the affected genes are not included in current considerations. With my chronic pathologies and other genetic problems, I would unfortunately only get a minimal reduction of my adverse drug reactions with this PGX support (green column). If at some point even more factors/genes etc. are “included”, PGX will really be a lifesaver. But unfortunately, many different guidelines and the current lack of consensus in science push our hopes a little further into the distance.
Unfortunately, PGx “alone” will never be able to tell the whole “true” and comprehensive story of drug exposure. The implementation of PGx testing in the clinical and GP setting will be a major challenge, especially against the background of the need for a holistic approach (especially in the context of the many chronic diseases).
A 360 view of the future
Thoughts on the development of more robust PGX tools
A important piece of the puzzle of these ecosystems for me is also the weekly “PK weekly dose” by Professor Eric Chan in the sense of PK knowledge transfer and personalized medicine. Please let us change to my PK-Community section for this
Please be sure to visit the section "PGx analyses and the lack of consensus" (case studies).