Patient Summary - Viacheslav Kim

Hello Doctor, I am establishing primary care after recently moving from Kyrgyzstan to the United States, so some of my past medical records may not be available electronically in U.S. systems. I am 37 years old and work as an IT specialist, spending long periods sitting during the day, which I think may contribute to some of my musculoskeletal symptoms. I have consumer whole genome sequencing data (30x WGS from Sequencing.com) that I have included as a reference appendix at the end of this document, in case any of it is clinically useful.

1. Breathing / Right Chest Symptoms

Intermittent difficulty taking a full breath; restriction/tightness in right chest / lower rib / diaphragm area since teenage years
Traumatic chest injury at age ~14 during martial arts → diagnosed traumatic pleuritis with fluid accumulation → drainage by thoracic surgery
Was told the injury/procedure might lead to future chest wall or diaphragm issues
Continues to feel restricted with deep inhalation; frequent need to stretch or reposition for relief
Stretching/movement sometimes causes popping sensations with temporary relief
Osteopathic provider noted possible asymmetry or inward displacement of a rib/chest wall structure on the right side

2. Musculoskeletal / Spine / Foot Issues

Flat feet since childhood; more recently developed plantar fasciitis
Chronic back tightness/discomfort with frequent need to stretch/mobilize; popping sensations with temporary relief
History of manual therapy / osteopathic treatment

Bicycle accident at age ~17 (mountain terrain)

Impact to head, left shoulder/arm, left hip/thigh
Brief loss of consciousness / concussion; no full imaging or formal treatment at the time
Later developed pain/spasm around left shoulder blade / left shoulder; at one point left shoulder seemed to roll forward (improved since)
Ongoing discomfort/tension in left thigh/hip area

Prior spine imaging findings

Old compression injury/deformity in the spine
Multiple disc protrusions in cervical, thoracic, and lumbar spine

Childhood fracture history

Approximately 12 fractures (arms/legs/extremities) by 9th grade
Attributed at the time to rapid growth and poor coordination

The following is provided as supplementary context from consumer 30x whole genome sequencing (Sequencing.com, GRCh38). All variants were independently verified against the raw genome file. Interpretations reference current CPIC pharmacogenomics guidelines and published GWAS meta-analyses. This data has not been validated in a CLIA/CAP laboratory.

Supplement	Notes
Creatine	May affect serum creatinine lab values
Fiber (psyllium + ground flaxseed)
B vitamins
TMG (trimethylglycine)	Methyl donor
GlyNAC (glycine + N-acetylcysteine)	Glutathione precursor

Pharmacogenomic Profile

These findings may be relevant if medications in these categories are considered.

Statin considerations — dual transporter variants

Two transporter gene variants (SLCO1B1 *1/*5 and ABCG2 Q141K homozygous) may affect how several statins are metabolized. Per CPIC 2022 guidelines, some statins carry higher myopathy risk in this genotype profile:

Statin	Consideration	CPIC 2022
Pravastatin	Least affected by these transporters	Strong
Fluvastatin	Least affected by these transporters	Strong
Rosuvastatin	ABCG2 variant may approximately double blood levels; ≤10 mg suggested	Moderate
Atorvastatin	Moderate SLCO1B1 sensitivity; ≤40 mg suggested	Moderate
Pitavastatin	Limited by SLCO1B1; ≤2 mg suggested	Moderate
Simvastatin	Highest myopathy risk with SLCO1B1 *5; ≤20 mg or consider alternatives	Strong

Warfarin sensitivity

VKORC1 −1639 A/A (rs9923231 T/T) + CYP4F2 *1/*3 (rs2108622 C/T)

This genotype is associated with significantly lower warfarin requirements (~3–4.4 mg/day vs. 5–7 mg standard). If warfarin is ever considered, the IWPC pharmacogenetic dosing algorithm may be helpful. CPIC Strong, 2017.

Clopidogrel — intermediate metabolizer

CYP2C19 *1/*2 (rs4244285 G/A)

This genotype reduces active metabolite formation by ~30%. CPIC 2022 guidelines note that prasugrel or ticagrelor may be more effective alternatives for ACS/PCI indications. Standard PPI dosing is unaffected.

CYP3A5 expressor

rs776746 T/C • *1/*3

If tacrolimus is ever needed, this genotype is associated with faster metabolism and potentially higher starting doses. CPIC Strong, 2015.

CYP2D6 — normal metabolizer

rs1065852 G/A • *1/*10 (AS 1.25)

Reclassified as normal metabolizer per 2019 CPIC consensus. Standard dosing expected for codeine, tramadol, beta-blockers, SSRIs.

Cardiovascular Genomic Context

These variants provide background context for the family history and blood pressure findings.

Uric acid / gout risk Elevated risk

ABCG2 Q141K homozygous (rs2231142 T/T) — this is the primary renal/intestinal urate transporter. Homozygous carriers have substantially reduced urate excretion, with published gout odds ratios of 3.1–4.3×.
GCKR P446L homozygous (rs1260326 C/C) — may increase uric acid production via hepatic de novo lipogenesis.
Combined with father's gout with tophi, this may warrant baseline uric acid screening. ABCG2 Q141K may also reduce allopurinol efficacy (DPWG) and increase rosuvastatin blood levels.

Blood pressure context

AGT M235T (rs699 het) — modestly associated with higher angiotensinogen levels (hypertension OR 1.08 in meta-analysis of 45,267). May suggest RAAS pathway involvement.
ADRB2 Gln27Gln (rs1042714 C/C hom) — associated with exaggerated sympathetic activity, but exercise training specifically normalizes this in Gln27 carriers. Consistent with the blood pressure improvement I notice with running.
NOS3 Glu298 (rs1799983 G/G) — wild-type. Normal endothelial nitric oxide production.

Lipid and cardiovascular protective findings Favorable

APOE ε3/ε3 — neutral cardiovascular risk, no ε4 allele.
PON1 192R/R (rs662 C/C hom) — highest paraoxonase enzymatic activity; associated with protection against LDL oxidation.
IL-6 −174 G/G (rs1800795) — reference genotype associated with lower IL-6 and CRP levels. No IL-6-driven inflammatory risk.
LIPC −514 C/T (rs1800588 het) — associated with modestly higher HDL, particularly with exercise.
TRIB1 T/T (rs2954029) — reference/favorable genotype for lipids.
Factor V Leiden (rs6025) and Prothrombin G20210A (rs1799963) — both absent.

Liver & Metabolic Genomic Context

NAFLD genetic risk — low Favorable

PNPLA3 I148M (rs738409) and TM6SF2 (rs58542926) — both absent (reference genotype). These are the two strongest genetic predictors of NAFLD progression and fibrosis risk. Their absence suggests that the prior steatosis at age 24 was likely lifestyle-driven and potentially reversible.

GCKR P446L — metabolic modifier

rs1260326 C/C • homozygous

Associated with increased hepatic glucose uptake, higher triglycerides, and paradoxically lower fasting glucose. May have contributed to prior steatosis. Carriers reportedly respond well to lifestyle intervention.

Obesity-related variants Informational

FTO (rs9939609, rs1558902, rs9930506 — all heterozygous) — each allele raises BMI ~0.3–0.4 kg/m² (obesity OR ~1.2). A meta-analysis of 218,166 individuals found that physical activity attenuates FTO-mediated risk by ~30%.
MC4R (rs17782313 T/C het) — associated with increased appetite drive (obesity OR 1.32). Sedentary work may amplify this effect.
These variants are common and modest in effect, but exercise appears to be an effective countermeasure for both.

Bone Health & Vitamin D Genomic Context

Potentially relevant to the ~12 childhood fractures.

Vitamin D pathway — multiple variants suggest lower levels

CYP2R1 (rs10741657 G/G hom) — the primary hepatic 25-hydroxylase. GG is the GWAS risk genotype, associated with significantly lower 25(OH)D (meta-analysis of 52,417 participants).
CYP24A1 (rs6013897 A/A hom) — increased vitamin D catabolism. Combined with CYP2R1, this creates reduced activation plus increased degradation.
NADSYN1/DHCR7 (rs12785878 T/T hom) — favorable for cutaneous vitamin D synthesis (partially offsetting).
GC (rs7041 het) and VDR FokI (rs2228570 het) — intermediate effects.

The combined genetic profile may predict ~3–5 ng/mL lower 25(OH)D than average, which could contribute to suboptimal bone mineralization during adolescent growth. COL1A1 Sp1 polymorphism (rs1800012) is absent, making collagen-mediated bone quality defects unlikely.

Joint & connective tissue

GDF5 (rs143383 A/A hom) — associated with reduced GDF5 expression and increased osteoarthritis risk.
COL5A1 (rs12722 C/T het) — collagen type V variant; research links it to altered connective tissue properties and tendon/ligament injury susceptibility.

Skin / Scalp Genomic Context

VDR FokI (het) — VDR regulates cathelicidin/LL-37, a key antimicrobial peptide in skin that is bactericidal against S. aureus. Vitamin D status directly affects this pathway.
IL-10 −819 C/T (rs1800871 het) — intermediate anti-inflammatory cytokine capacity. Associated with susceptibility to S. aureus skin infections in some studies.
The vitamin D pathway variants described above may also affect skin antimicrobial defense. Vitamin D optimization could potentially benefit both bone health and skin barrier function.

Methylation Profile

MTHFR Normal

C677T (rs1801133): wild-type — full enzyme activity
A1298C (rs1801131): T/G het — ~85% activity, clinically insignificant alone

COMT Val158Met Intermediate

rs4680: G/A het
Intermediate catecholamine clearance.

MTRR (rs1801394 A/G het) — mildly reduced B12 recycling; clinically insignificant in isolation.

Supplement Genomic Context

For reference — how the current supplement stack relates to the genomic findings.

Supplement	Genomic context
Creatine	Safe with liver history (NHANES n=5,957). Spares ~40% of SAM methylation demand.
Psyllium	Meta-analysis of 28 RCTs: ~13 mg/dL LDL reduction. May be particularly valuable if statin options are limited.
Ground flaxseed	ALA omega-3; some evidence that omega-3 modulates GCKR impact on triglycerides.
B vitamins	MTHFR C677T is wild-type, so standard folic acid is fully metabolized. Standard doses appear adequate.
TMG	Provides methyl groups via BHMT pathway, complementary to folate cycle. Pilot data for hepatoprotective effects.
GlyNAC	NAC reduces ALT in NAFLD per multiple RCTs. Glutathione precursor.
Vitamin D3 (not currently taking)	Given the CYP2R1/CYP24A1 genotype, standard doses (600–1,000 IU) may be insufficient. Higher doses (2,000–4,000 IU/day) are sometimes suggested for this profile, with a target of 40–60 ng/mL.

Possible Considerations for Baseline Workup

These are not prescriptive — just genomic context that might inform lab/screening decisions at your discretion.

Serum uric acid — ABCG2 homozygous + GCKR homozygous + family gout history
Serum 25(OH)D — vitamin D pathway risk variants + 12 childhood fractures
Fasting lipid panel with triglycerides — GCKR P446L homozygous may raise TG; family cardiac history
Comprehensive metabolic panel incl. ALT/AST — prior steatosis; GCKR
HbA1c — metabolic screening; FTO and MC4R variants
hs-CRP — cardiovascular risk stratification given family history
Fasting homocysteine — one-time baseline given mild MTRR variant
Calcium, phosphate, ALP, intact PTH — bone mineral metabolism context
DEXA scan — 12 childhood fractures + vitamin D pathway variants (if clinically appropriate)
Ambulatory/home BP monitoring — to confirm intermittent readings

Reassuring Findings

APOE ε3/ε3 (no ε4) • PNPLA3 + TM6SF2 reference (low NAFLD-progression risk) • NOS3 Glu298 wild-type (normal eNOS/NO) • MTHFR C677T wild-type • PON1 RR (highest paraoxonase activity) • TRIB1 TT (favorable lipids) • IL-6 −174 GG (no inflammatory risk from this locus) • Factor V Leiden + Prothrombin absent • COL1A1 Sp1 absent • CYP2D6 normal metabolizer • CASR normal

Note: Genomic data is from consumer whole genome sequencing (30x WGS, Sequencing.com) and has not been independently validated in a clinical (CLIA/CAP) laboratory. Pharmacogenomic references cite CPIC guidelines by year and strength level. Cardiovascular and metabolic variants cite published GWAS meta-analyses. All findings represent common polygenic risk alleles and pharmacogenomic variants. This information is provided as supplementary context and is not intended to replace clinical judgment.

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