hu315025
Reports were generated from genotype/chip data only. Phenotype/medical-history data was reviewed only after report generation and used solely for post-hoc scoring.
A related signal was detected in 7 / 11 scored phenotype domains.
Case Card
Report generated
31 May 2026, 22:15 UTC
Phenotype revealed
31 May 2026, 22:40 UTC
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Secondary Domains: Top 10
Held-Out Phenotype Domains
Missed Known Conditions
Protein / PGx Signals
Evidence Panel
Domain-level scoring compares what the frozen report prioritised against the held-out phenotype summary.
| Domain | Score | What Helix Prioritised | Held-Out Phenotype Evidence | Rationale |
|---|---|---|---|---|
| Metabolic Body Composition | Signal detected | Clinical recommendation 1: "Body composition and weight tendency"; recommendation 2: favorable glucose counterweights. | Height 6 ft 1 in and weight about 215-219 lb were recorded, giving overweight body-composition context. | The report identifies body-composition tendency as the leading practical domain and includes glucose counterweights. This aligns with the available phenotype context. |
| GI Gallbladder | Signal detected | Clinical recommendation 3: "Gallbladder and bile-flow tendency". | Procedure on gallbladder was recorded. | The report directly surfaces gallbladder and bile-flow tendency in the top three cards. |
| Cardiovascular Arrhythmia | Signal detected | Clinical recommendation 4: "Heart and circulation balance". | Cardiac arrhythmia was recorded in the held-out phenotype. | The report includes circulation and atrial-fibrillation context, but many heart signals are described as favorable and the card does not directly identify arrhythmia. |
| Psychiatric Panic | Signal detected | Clinical recommendation 5: "Attention, mood, migraine, and stress reactivity". | Panic disorder and Paxil use were recorded. | The report captures mood and stress reactivity, but does not name panic disorder directly. |
| Neurological Alzheimers | Miss | No consumer-visible recommendation names Alzheimer disease, dementia or cognitive decline. | Early onset Alzheimer's and Aricept use were recorded. | The report does not capture the strongest neurological diagnosis in the held-out phenotype. |
| Neuropathy Cervical Myelopathy | Miss | Clinical recommendation 12: "Joint, hip, and balance loading" is musculoskeletal, not neuropathy-specific. | Neuropathy, cervical myelopathy, cervical spondylosis and Lyrica use were recorded. | The report misses peripheral neuropathy and cervical myelopathy as neurological conditions. |
| Musculoskeletal Spine Scoliosis Disc | Miss | Clinical recommendation 12: "Joint, hip, and balance loading". | Acquired scoliosis, degenerative disc disease, spinal stenosis, sciatica, bone spurs, fusion and laminectomy were recorded. | The report mentions joint and balance loading but states favorable disc-disease context, which conflicts with the held-out degenerative disc and spine history. |
| Allergy Medication | Signal detected | Clinical recommendation 6: "Immune, allergy, and skin inflammation". | Allergy to penicillin and doxycycline reaction history plus fexofenadine use were recorded. | The report surfaces immune/allergy context, though it does not identify medication allergy specifically. |
| Male Urinary Prostate Blood Kidney | Signal detected | Clinical recommendations 7, 8, 9, 10 and 11 cover male urinary/prostate, blood-cell, kidney, colon and eye background. | No male urinary/prostate, blood-cell, clotting, kidney-stone, colon, or eye diagnosis was identified in the held-out summary. | These background categories are not phenotype-matched. They are cautious and review-oriented, so score as weak non-matching pressure. |
| Pharmacogenomics Active Meds | Signal detected | Dedicated Medication Safety section lists CYP2C9, CYP3A5, DPYD, NAT2 and UGT1A1. | Medication rows include Aricept, fexofenadine, Lyrica and Paxil; no direct scored drug-gene match was established from the report summary. | Medication safety is visible as utility context, but active medication overlap is weak from the available summary. |
| Cancer Negative Context | Miss | No main recommendation presents a cancer-screening category. | No cancer diagnosis was identified in the held-out summary. | The report does not create cancer non-matching pressure for this case. |
| Rare Monogenic Negative Control | Signal detected | Clinical Variant Status remains no confirmed pathogenic finding; variants are presented as background or confirmation-required where applicable. | No confirmed severe monogenic diagnosis matching a pathogenic carrier call was identified. | Negative-control pass. The report avoids a confirmed rare-disease overcall. |
Reviewer Notes
Report renders 12 cards plus dedicated Medication safety, diet and training. It hits body-composition, gallbladder, cardiovascular arrhythmia context, mood/panic context and allergy/skin context. It misses early-onset Alzheimer and neuropathy specificity, and the spine card conflicts with the degenerative-disc phenotype by describing favorable disc context.
Phenotype Terms Revealed After Report Freeze
Frozen Review Notes
# hu315025 v2 Single-Agent Report Score Report scored: `11d955f4-893a-4a9e-869a-198f5b56d5d1` Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 11 domains. - Alignment: 5 / 11 top-or-secondary domains. - Weak adjacent/context signals: 2 / 11. - Absent phenotype domains: 3 / 11. - Safety pass: 1 rare/monogenic negative-control row. ## Main Findings - Strong hits: body composition and gallbladder. - Partial hits: cardiac arrhythmia context, panic/mood/stress context, and allergy context. - Important misses: early-onset Alzheimer's, neuropathy, and cervical myelopathy. - Main mismatch: the spine/MSK card describes favorable disc context against a real degenerative disc/scoliosis/spine history. - PGx is visible as a separate safety section but only weakly overlaps the visible medication list.