Genetic Test Results with Patient Identifiers

Detects documents containing genetic or genomic test results linked to identifiable patients, including pathogenic variant findings, hereditary risk assessments, and pharmacogenomic reports. Genetic data reveals predisposition to diseases, carrier status, and family lineage — disclosure enables genetic discrimination in insurance, employment, and relationships.

Type: keyword_proximity
Engine: universal
Confidence: high
Confidence justification: High confidence: requires co-occurrence of genetic testing terminology with patient-identifying information. Generic genomic research language without patient identifiers does not trigger detection.
Jurisdictions: au
Regulations: Anti-Discrimination Act 1991 (Qld), Health Records Act 2001 (Vic), Privacy Act 1988 (Cth)
Frameworks: QGISCF
Data categories: health, government
Scope: wide
Risk rating: 8

Pattern

(?i)\b(genetic\s+test\s+result|genomic\s+(?:analysis|report|sequencing)|pathogenic\s+variant|hereditary\s+(?:risk|predisposition)|pharmacogenomic\s+report|carrier\s+status\s+(?:report|result)|whole\s+genome\s+sequencing|BRCA[12]\s+(?:positive|negative|variant))\b

Corroborative evidence keywords

PROTECTED, Privacy, genetic test, genomic sequencing, pathogenic variant, variant of uncertain significance, hereditary, BRCA1, BRCA2, carrier status, pharmacogenomic, whole genome, exome sequencing, MRN, patient, date of birth, Medicare, referring clinician, genetic counsellor, predictive testing (+57 more)

Proximity: 300 characters

Should match

PROTECTED Privacy. Genetic Test Result Report. Patient: Jennifer Anne WILLIAMS, DOB 14/03/1985, MRN 4872156. Test: BRCA1/BRCA2 panel sequencing. Result: Pathogenic variant identified in BRCA2 gene (c.5946delT). Carrier status confirmed. Hereditary risk assessment: significantly elevated lifetime risk of breast and ovarian cancer. Genetic counsellor referral: Dr Sarah Chen. — Genetic test result with pathogenic variant and patient identifiers
Pharmacogenomic Report — Queensland Health Genomics Unit. Patient Medicare No: 2456 78901 2. Genomic analysis of CYP2D6 and CYP2C19 metabolism genes. Result: CYP2D6 poor metaboliser phenotype. Clinical recommendation: avoid codeine, adjust tamoxifen dosing. Referring clinician: Dr Michael Park. — Pharmacogenomic report with Medicare number and clinical recommendations
Whole genome sequencing report. Patient: Robert James THOMPSON, DOB 22/07/1978. Hereditary predisposition screening. Pathogenic variant detected in MLH1 gene associated with Lynch syndrome. Carrier status for 3 additional variants of uncertain significance. Predictive testing recommended for first-degree relatives. — Whole genome sequencing with hereditary predisposition findings

Should not match

The Queensland Genomics Health Alliance published its annual report highlighting that 15,000 genomic tests were performed across the state. The report used anonymised aggregate data and contained no individual patient information. — Published annual report with aggregate genomic testing statistics
A Nature Genetics research paper examined BRCA1 pathogenic variants across a cohort of 5,000 anonymised participants. The study found carrier status prevalence of 1 in 400 in the general population. — Published academic research with anonymised genomic data
The genetic counselling training module explains the process of predictive testing for hereditary cancer syndromes. Case studies use fictional patient scenarios to illustrate counselling techniques. — Training module with fictional patient scenarios

Known false positives

Published genomic research using anonymised cohort data Mitigation: Negative keyword exclusion: 'anonymised', 'cohort', 'research', 'study', 'published', 'journal', 'participants'
Genetic counselling training materials with fictional scenarios Mitigation: Negative keyword exclusion: 'training module', 'fictional', 'case study', 'example', 'scenario'
Consumer genetic testing marketing materials Mitigation: Negative keyword exclusion: 'order your kit', 'ancestry', '23andMe', 'marketing', 'promotional'