Case studies
What people changed.
Four people, anonymised. We changed the names and blurred the details to protect them. Everything else is real: the variants we found, what they mean, and the follow-up discussed afterwards.
With the explicit consent of each person for the publication of the abstracted account below.
01
Cardiovascular
Understanding a family history of heart disease
She discussed the findings and her family history with her physician. The follow-up included an Lp(a) blood test and a plan for checking her cholesterol.
The person
A woman in her mid-forties with no symptoms. Her father had coronary bypass surgery at sixty.
What they asked
She wanted to understand genetic findings related to heart disease and cholesterol, and which results to discuss with her physician.
What was found
- APOE, e3/e4 genotype (rs429358, rs7412)One copy of the e4 form of APOE, a gene that shapes how the body handles dietary fat and cholesterol. In e4 carriers, LDL cholesterol tends to run a little higher and often responds more sharply to a diet heavy in saturated fat. Read here purely as a lipid and cardiovascular signal, and nothing more, it simply means her cholesterol is worth watching a little earlier, and that what she eats may carry more weight for her than for most. It is a tendency, not a verdict, and not a statement about anything beyond her lipids.
- 9p21, rs10757278 risk alleleThe most replicated common variant for coronary artery disease, carried by a large share of the population. A risk allele here modestly raises lifetime odds of coronary disease, independent of cholesterol. It changes nothing she feels today; it is simply a reason to begin everyday prevention in her forties rather than her sixties, which is the whole point of knowing it now.
- LPA, rs10455872 G alleleA variant linked to higher lipoprotein(a), or Lp(a), an inherited cholesterol-like particle that a standard lipid panel does not measure and that diet and exercise barely move. This marker mainly flags raised Lp(a) in people of European ancestry, and it captures only part of the picture, so it cannot rule the trait in or out on its own. That is exactly why it is the finding of clinical consequence here: it points toward a simple one-time Lp(a) blood test, a conversation best had with her physician, so a number her family history only hinted at is finally measured rather than assumed, whatever her genotype suggests.
02
Pharmacogenomics
Reviewing drug-response results with a prescriber
He brought the findings and his medication symptoms to his physician. They reviewed his statin and the planned acid-reducing medicine. The warfarin-related result was recorded for future prescribing decisions.
The person
A man in his mid-fifties, on three regular medications including a statin that did not sit well with him. He was about to start a fourth.
What they asked
He wanted to discuss genetic drug-response findings with his physician before adding another medicine.
What was found
- SLCO1B1, reduced transporter functionThe liver protein that clears statins from the blood works at reduced capacity, so statins build up more. That fits the muscle aches he reported on simvastatin, and points to a statin that relies less on this pathway, at his physician's discretion.
- CYP2C19, intermediate metabolizerCYP2C19 affects the processing of several proton pump inhibitors, medicines used to reduce stomach acid. An intermediate-metabolizer result does not automatically call for a lower starting dose. The prescriber considers the specific medicine, reason for treatment and response.
- CYP2C9 + VKORC1, combined sensitivityThese findings may affect warfarin dose requirements if it is prescribed. They should be considered by the prescriber alongside other clinical information.
03
Healthspan
Understanding vitamin D and bone-health findings
She discussed vitamin D testing and her diet with her physician. The genetic findings were considered alongside measured vitamin D levels, rather than treated as evidence of a deficiency.
The person
An active woman in her late forties with no reported fractures. She wanted to understand findings related to vitamin D and bone health.
What they asked
She asked whether the results suggested any questions about her diet or vitamin D levels to raise with her physician.
What was found
- GC rs2282679 (vitamin D binding protein)A common variant in the protein that carries vitamin D through the blood. It tends to track with a slightly lower amount of vitamin D in circulation, and that gap usually widens in the darker, lower-sun months. It does not mean a deficiency. It simply means her body may hold a thinner margin than average, which is useful to know rather than to fear, and easy to keep an eye on with a seasonal blood level.
- VDR FokI rs2228570 (vitamin D receptor)A well-studied variant in how cells read the vitamin D signal that supports calcium handling and bone upkeep. Her version sits in the more-responsive range. The link between this single variant and actual bone density is modest and varies between populations, so it is not a promise of stronger bones. It is one more reason that keeping vitamin D and calcium steadily available, rather than relying on a single good day, is effort well spent for her.
- LCT / MCM6 rs4988235 (lactase persistence)This marker reads whether the dairy-digesting gene stays switched on into adulthood, as established in people of European ancestry. It helps explain her appetite for, or quiet avoidance of, dairy, one of the simplest dietary routes to calcium. In other ancestries, lactase persistence can run through different variants this test does not capture, so for some people dairy tolerance is better judged by how they actually feel than by this single result. Either way it is a dial on how she gets calcium, not a problem to solve.
04
Inheritance
A plain-language picture before they started a family
They identified questions to discuss before pregnancy: the scope of their carrier screening and the Factor V Leiden findings. A negative carrier screen does not eliminate all reproductive risk.
The person
A couple in their early thirties, hoping for a child within two years. Both reasonably fit, with no family history they knew of.
What they asked
What they each carry, and what that could mean for a future child, read across both of them at once. They were not looking for clinical answers, just a plain-language picture before they started a family.
What was found
- CFTR, ΔF508 heterozygote (one of two)She carries one copy of the CFTR ΔF508 variant. Her partner's screen did not detect a carrier finding. The risk to a child depends on both partners' results and the scope of testing. His negative screen does not rule out every disease-causing CFTR variant.
- Factor V Leiden, both heterozygousBoth partners carry one copy of Factor V Leiden, a variant associated with increased blood-clot risk. She should share the finding with her obstetrician when planning pregnancy. Management depends on her personal and family history.
- Mitochondrial, haplogroup K1aHer mitochondrial haplogroup is K1a and his Y-chromosome haplogroup is R1b-M269. Children inherit mitochondrial DNA from their mother. A son would also inherit his father's Y chromosome. These lineages describe only part of their ancestry.
A note
None of the above is medical advice.
An analysis is informational and educational, not clinical. It is written to be considered and brought to a physician where the variants imply a clinical conversation. The outcomes above describe what these people chose to do after speaking with their own healthcare professionals. Your analysis, and your decisions, will be your own.
Your own analysis
Join the people who decided to age by design.
The accounts above sit next to each other not because their authors do, but because the same scientist sat with each one, and turned what was written in their DNA into a few choices worth living by. Your conversation would begin the same way.