🧬 Preventive medicine in action 🧬
- AlineFlore
- 5 days ago
- 5 min read
Updated: 4 days ago
What my genetic test taught me about myself
A few weeks ago, I started my journey with Mi Salud Genomica, a pioneering program in preventive medicine launched by Sanitas to detect possible genetically predisposed diseases and take actions to prevent them.
It took me some time before deciding to do it mainly because Sanitas is a big group that includes the hospitals - the part that launched Mi Salud Genomica - but also the insurance branch and I didn’t want my policy to be impacted by the results of my analysis. My doctor reassured me on this point and I have always been team ‘take my data if it can help me or others’ so after weighing pros and cons and getting an insightful discussion with my doctor, I booked the appointment for the blood draw. What really convinced me though was the pharmacogenomics feature that would give me insights on my response to drugs. More on this later!
I did 23andme a few years ago so I had some insights about my genome already but pharmacogenomics was new. And I have to say, I enjoyed the overall experience with Sanitas more: It was much more personal, presented in a clear way and it’s integrated into my doctor's EHR.
The process
The whole process was very smooth:
👉 Online health questionnaire
👉 Optional call with a geneticist to ask questions and clear doubts
👉 Blood extraction at the lab
👉 Analysis ready about 6 weeks later
👉 30min call with a geneticist to receive the results and go through them
👉 Optional call with the prevention team to design a personalized program based on the results
The results
The call with the geneticist was my favorite part of the process. You finally receive the results: It’s a mix of excitement and anxiety in case of bad news. When the results are ready, you receive a notification to book a videoconsultation with the geneticist but you won’t see the results till then. The results are presented as a 150+ pages PDF during the call, divided into different sections and the doctor goes through the important information. Having a ‘human in the loop’ and being presented the results live made a big difference. The doctor was very nice and empathetic, answering all my questions and doubts patiently.
It’s a lot of information to go through. I had to do some live mental gymnastics during the call translating the medical information from the report delivered in Spanish (Ah… that’s a gynaecological condition… no, it’s a respiratory one… oups).
Right after the call, the results are available in the app organized in a more friendly way and the PDF is available to download as well. The information presented in the app could be more user friendly so we understand better what they mean for us in simple language not medical one. But they are still in the pilot phase so improvements will come for sure.
The results are organized in different categories:
Clinical results: Relevant genetic findings that constitute a risk to develop a certain disease (ie: heart disease)
Multifactorial diseases: Those variants only pose a risk if certain lifestyle habits are followed (ie: lactose or gluten intolerance, fatty liver disease). People are more at risk to develop them but they may never appear.
Polygenic tests: Common and hereditary diseases, with risk percentile assigned of developing the disease compared with the general population (ie: diabetes, cholesterol, breast cancer, heart attack)
Carrier: Gene variants that don’t represent a risk for the person but that can be transmitted to future generations especially if the partner carries the same affected gene (ie: cystic fibrosis)
Pharmacogenomics: Analyzes how a person will react to specific drugs and the potential non effectiveness of some drugs.
Traits: Personal characteristics and physical traits that are not impacting one’s health (ie: type of hair, muscular resistance, pain sensitivity, etc)
Ancestries: Where are our ancestors coming from.
The way the information is categorized helps understand better the results and the impact one can have on the different results, through lifestyle changes.
What is also interesting is the fact that the analyzed information will keep evolving over time and the results will be updated accordingly when they integrate new conditions or biomarkers.
*Some interesting insights
Sanitas has already sequenced over 5000 customers in Spain aged between 20 and 69 years old:
> 64% women, 36% men
> 4% shown high risk/life expectancy conditions
> 17% shown higher risk of developing a genetic condition
> 100% shown drug interactions (45% being high risk interactions)
> 90% shown risks related to lifestyle, nutrition and physical activity.
The pharmacogenomics feature
I am a big believer in personalized medicine and having a treatment adapted to one specific person. Knowing which drug may not metabolize with my organism or could create mild or severe side effects is a big step in that direction and a big decision support for healthcare professionals when prescribing a treatment: The pharmacogenomics’ feature is integrated into Sanitas’ EHR so whenever I need a treatment, they will receive an alert if they are picking a drug that is not optimal for me.
I was recently prescribed a long term treatment, a few weeks before getting the genomics results back, and it turns out the drug I have been prescribed has high risks of provoking adverse effects. It doesn’t mean that it will as each patient reacts differently but it means that there is a closer monitoring to check if we keep the drug or change it and to which one.
Final reflexions
There was no big nor bad surprises in my genetic results, nothing that I didn’t know about already, either through 23andme or medical exams. But now it gives me and my doctor a solid basis to monitor some aspects of my health and take preventive actions.
The challenge that I see going forward is the acceptance of the results of the report by other healthcare professionals outside of Sanitas. It’s still very early but my first interactions with non Sanitas healthcare professionals have been somewhat mixed, especially regarding trust in the results. Will those results be taken into account by. the public system to bend protocols when prescribing a treatment? Will we not become too obsessed with those results and have our body create side effects that are not real because the report says I shouldn’t take that drug?
We are still in the early days of precision medicine but I feel privileged to have access to a healthcare system that bets on innovation walking the talk and to have been included in this genetic pilot program making me a steadier driver of my own health, working hand in hand with my doctor.
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