Clinical Case Studies

Fictional-but-clinically-grounded case studies showing the insights that emerge when genetics, health records, and AI work together.

Hormones & Mood

Her TSH was normal. Her cells were still asking for thyroid hormone. — A fictional case study: Ciara has hypothyroidism and a normal TSH on levothyroxine, yet remains symptomatic with fatigue, weight gain, brain fog, cold intolerance, and low mood. DIO2 Thr92Ala (homozygous), reduced DIO1 activity, and BDNF Val66Met explain why T4-only treatment can leave tissue thyroid effect inadequate in a specific subset of patients.
She prepared for postpartum depression. This still felt different. — A fictional case study: Nadia's postpartum depression after her second baby was far more severe than after her first. Her COMT, ESR1, and MTHFR genetics help explain why the postpartum estrogen drop, low ferritin, low folate, and low vitamin D left her only partly helped by an SSRI.
Her HRT looked right on paper. Her body disagreed. — A fictional case study: Ruth is a family doctor whose perimenopause symptoms persisted despite HRT. Her CYP1B1, COMT, and SHBG genetics explain why total estradiol can look adequate while active estrogen exposure falls short.
She was told PCOS was about weight. Her insulin told another story. — A fictional case study: Nina has irregular cycles, acne, normal BMI, high fasting insulin, low SHBG, and androgen-sensitive genetics. Her story reframes PCOS as an insulin and active-testosterone problem, not a weight problem.
The tests were reassuring. The IVF response was not. — A fictional case study: Elena has unexplained infertility and poor response to standard IVF stimulation despite reassuring baseline tests. FSHR, FSHB, MTHFR, and Factor V Leiden genetics do not diagnose infertility, but they reframe her next fertility-planning conversation.

Sleep & Circadian

He tried everything for insomnia. It was his clock. — A fictional case study: Tariq was treated for insomnia for years, but his sleep pattern fit delayed sleep phase disorder. CLOCK rs1801260, CRY1 rs8192440, PER3 rs57875989, and a DLMO of 11:45pm showed a body clock that runs late and needs timed light, not more sleep hygiene.

Fitness & Recovery

She trained harder and kept gaining weight. — A fictional case study: Preethi trained 5x/week for 18 months while eating in a calorie deficit, yet gained weight and developed high cortisol, insulin resistance, low ferritin, and chronic fatigue. Her ADRB2, NR3C1, and ACE results explain why high-intensity training was the wrong stress for her body.

Autoimmune & Inflammation

Every specialist saw a piece. No one saw the pattern. — A fictional case study: Chioma had four years of joint pain, fatigue, brain fog, mouth ulcers, gut symptoms, and no clear diagnosis. Her HLA-DQ2.5 result, reduced gluten before testing, low ferritin, low vitamin D, low B12, and inflammatory variants made the missed pattern visible.

Detox & Liver

He drank less than his friends. His liver numbers still rose. — A fictional case study: Kenji drinks 6–8 drinks per week, but his ALDH2 *1/*2, fast ADH1B, and GSTM1 null results explain why that modest intake can create a much higher acetaldehyde burden for his liver.

Skin & Inflammation

The best treatment helped. Her skin still would not heal. — A fictional case study: Aisha's eczema improved on dupilumab, but 40% of the problem remained. FLG, SPINK5, IL13, VDR, and low vitamin D showed that her immune treatment was working while her skin barrier still needed direct repair.

Methylation & MTHFR

The mystery fatigue her "normal" blood test missed — A fictional case study: Maya's standard labs looked normal, but her symptoms kept pointing to B12 and folate. Her MTHFR and FUT2 results explain why the issue was use and absorption, not effort.

APOE & Brain Health

Her mother's diagnosis raised the question — A fictional case study: Lena's mother has Alzheimer's. Her APOE result explains part of her risk, but the bigger story is how cholesterol, sleep, movement, and vitamin D change the picture.
He was told his risk. Nobody checked the form. — A fictional case study: David carries two copies of APOE ε4 and was already taking omega-3 and choline. FADS1 and PEMT explain why the standard supplement forms were not landing and what to discuss instead.
She followed the low-fat plan. The numbers got worse. — A fictional case study: Sofia has APOE ε3/ε4 and was told to go low-fat. Two years later her HDL fell and triglycerides climbed. LIPC and PPARA explain why the standard advice inverted her results.

Serotonin & Mood

Her life looked fine. Her body disagreed. — A fictional case study: Priya's life looked stable, but she felt anxious, flat, and tired most days. Her results showed why stress hit harder, recovery took longer, and low folate mattered more for her mood chemistry.

Drug Interactions

The statin looked standard. His body got extra. — A fictional case study: Raj's muscle pain after starting atorvastatin was not random bad luck. SLCO1B1 slowed liver uptake, while daily grapefruit and red yeast rice amplified the exposure.

Drug Metabolism

The dose kept changing. The target never settled. — A fictional case study: Eleanor has atrial fibrillation and needs warfarin to prevent strokes, but her INR keeps swinging out of range. CYP2C9 and VKORC1 explain why the standard starting dose was too high for her.

Caffeine & Sleep

He could drink coffee at 9pm and fall asleep. That was the problem. — A fictional case study: Derek drank 3-4 coffees a day and thought he slept fine. His CYP1A2 and ADORA2A results explain why afternoon caffeine could disrupt deep sleep even when he never felt wired.

Nutrient Absorption

She kept eating iron. Her stores stayed low. — A fictional case study: Amara's iron stores stayed low despite a meat-rich diet. Her TMPRSS6 and SLC11A2 results explain why her gut was not absorbing enough iron, and why the next conversation changed.
He took vitamin D for two years. His level barely moved. — A fictional case study: Carlos took vitamin D daily and still tested low. His VDR, GC, and CYP2R1 results explain why a standard dose can undershoot for him and what to discuss next.

Cardiovascular Risk

She ate for her heart. Her triglycerides still climbed. — A fictional case study: Fatima followed heart-healthy advice for five years, but her triglycerides stayed high and her omega-3 index stayed low. Her FADS1/FADS2 results explain why conversion, not effort, was the issue.
Three blood pressure drugs. Still the wrong target. — A fictional case study: Marcus has been on three blood pressure medicines with poor control. His genetics point to low-renin, salt-sensitive hypertension — a pattern that often responds to drug classes he has not been offered.
His kidney number was normal. The leak was not. — A fictional case study: Malcolm has normal kidney filtration labs but persistent urine albumin, borderline hypertension, and an APOL1 high-risk genotype. His story shows why eGFR is not the whole story and albumin can be the early warning.

Food Reactions

Three years of random symptoms. They weren't random. — A fictional case study: Saoirse's flushing, headaches, and racing heart were repeatedly labeled anxiety or IBS. Her AOC1 and HNMT results show a histamine-clearing problem, not a classic allergy.

Metabolic Health

He looked fit. His blood sugar told a different story. — A fictional case study: James has a healthy BMI and runs regularly, yet his glucose keeps rising. His story points away from weight loss and toward beta-cell timing, insulin sensitivity, and visceral fat hidden behind a normal BMI.
He did everything right. The gout kept coming back. — A fictional case study: Hiro followed a strict low-purine diet for a year and still had gout. His SLC2A9 and ABCG2 results explain why uric acid clearance, not diet, was the main issue.

Pharmacogenomics

Eight years. Four SSRIs. None of them worked. Here's why. — A fictional case study: Kofi tried four SSRIs over eight years and got no relief. His results showed that standard doses were being cleared too quickly to work, while side effects appeared when doses were pushed higher.
One codeine tablet hit like far more — A fictional case study: Brigid is a nurse prescribed codeine 30mg after minor surgery. Within an hour she had extreme nausea, dizziness, drowsiness, and confusion. Her CYP2D6 result showed that her body turns codeine into morphine unusually fast, changing the safety of future prescriptions.
Her pill was common. Her clot risk was not. — A fictional case study: Yasmin develops a DVT at 26 while on the combined oral contraceptive pill. Her Factor V Leiden variant and the pill each raise clot risk; together they multiply it. A genetics-informed review explains what happened, which contraception options remain safer, and what her family may need to know.

Menopause

She thought hiking was over. Her hormones told another story. — A fictional case study: Diane is a retired school principal who stopped hiking because of joint pain and has watched her mood go gray since menopause. She avoided HRT for five years because of breast cancer concerns. Her ESR1, COL1A1, and BDNF genetics help explain why estrogen loss hit her joints, bones, and mood harder than expected.
She changed everything. One missing clue explained what helped. — A fictional case study: Liz is a 52-year-old high school vice principal trying to manage menopause without HRT after her mother's clot on oral hormones. Her ESR1, CYP1B1/UGT1A, and VDR genetics explain why targeted phytoestrogens and vitamin D matter more for her than generic lifestyle advice.