My LDL came back high. Here is how my genome and my doctor shaped the statin decision together.
I am a masters athlete and I eat well. In August my LDL came back at 4.7 mmol/L. Last year it was 4.05. In 2023 it was about 5.06. My family history includes heart disease, type 2 diabetes and dementia before 70. My doctor's target for me is 3.5 or lower. A statin was on the table.
I am also a molecular biologist, and I have my whole genome. So before I said yes or no, I asked my doctor for six weeks and ran the question against my own DNA. Here is what that looked like.
What the genome added
- The monogenic check first. I scanned LDLR, APOB and PCSK9 for the known pathogenic familial hypercholesterolemia variants. None. If that had come back positive, this would have been a different post and a much shorter decision.
- Polygenic risk. My LDL polygenic score (286 variants, PGS Catalog PGS002285) sits at the 15th percentile for Europeans. My coronary artery disease score (metaGRS, PGS000018, 1.7 million variants) sits at the 16th. Read those two next to an LDL of 4.7 and the picture changes. My genes are not pushing my LDL up. Something else is. That made a six-week lifestyle trial a rational first move rather than wishful thinking.
- Pharmacogenetics. If we do start a statin, I checked SLCO1B1, the gene behind most statin muscle pain. I carry the normal-function genotype at rs4149056, which under the CPIC guideline means standard dosing of any statin with no added myopathy risk from this gene. That did not tell me whether to take one. It told me the common objection to taking one does not apply to me.
What the blood work added
LDL alone is a blunt number. My naturopath ordered ApoB and Lp(a). Lp(a) is mostly genetic and lifestyle does not move it, so if it is high the whole risk conversation changes regardless of what my LDL does. Results are pending. I will post them when they land.
What we decided
Six weeks on diet and training changes, then a recheck. My doctor's number is 3.5. If I hit it, we keep going and recheck again. If I do not, the statin conversation comes back and, thanks to the SLCO1B1 result, it will be a short one. The recheck is this month. I will post the number either way.
What I learned
The genome did not make the decision. It made the conversation with my doctor better. Instead of "your LDL is high, here is a prescription," we had "here is your baseline risk, here is which drug your liver handles fine, here is a number to hit, and here is what we do if you miss it."
More data was not the point. Knowing which three numbers mattered for me was the point.
Not medical advice. My numbers, my doctor, my decision.