Genetic Testing Compliance (CLIA/FDA)

Assessment for clinical genetic testing laboratories covering CLIA high-complexity testing, FDA LDT oversight, and genetic counseling requirements

Clinical-labGeneticsDiagnosticsBiotech minutes18 questions

1. CLIA Certification

Is laboratory certified for high-complexity testing under CLIA?*

CLIA certificate: Molecular genetic testing classified as high-complexity; requires qualified director, technical supervisor

Does laboratory director meet CLIA high-complexity qualifications (MD/PhD with molecular training)?*

Director qualifications: Board certification in molecular genetics OR doctoral degree with training/experience

Are testing personnel qualified with documented molecular diagnostics training?*

Personnel: Bachelor degree + 2 years experience OR master degree + 1 year for high-complexity testing

2. Test Validation & Analytical Performance

Are analytical sensitivity and specificity established for each genetic test?*

Analytical validation: Limit of detection, accuracy (concordance with reference method), precision (repeatability, reproducibility)

Is test reportable range defined with upper/lower limits of quantitation?*

Reportable range: Minimum 3 positive and 3 negative samples at each decision point; variant allele frequency (VAF) thresholds

Are interfering substances and cross-reactivity tested during validation?*

Interference testing: Hemolysis, lipemia, bilirubin; cross-reactivity with related sequences (pseudogenes, homologs)

3. Clinical Validity & Utility

Is clinical validity (sensitivity/specificity for disease diagnosis) documented with evidence?*

Clinical validity: Published literature, population studies; distinguish pathogenic from benign variants

Are variant classifications performed per ACMG/AMP guidelines?*

ACMG variant classification: Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign (5-tier system)

Are variants of uncertain significance (VUS) clearly communicated with limitations?*

VUS reporting: State insufficient evidence for classification, may be reclassified with new data, clinical correlation needed

4. Result Interpretation & Reporting

Do reports include methodology, reference genome build, and interpretation limitations?*

Report elements: Test method, genes/regions analyzed, genome build (GRCh37/38), coverage metrics, limitations

Are secondary findings (ACMG SF v3.2 genes) disclosed with patient consent?*

ACMG Secondary Findings: 78 genes for actionable conditions; opt-in/opt-out consent required

Is genetic counseling recommended in reports for pathogenic/likely pathogenic results?*

Genetic counseling: Recommend for positive results, cascade testing of relatives, reproductive implications

5. Genetic Counseling & Consent

Is informed consent obtained addressing test purpose, limitations, and psychological impact?*

Informed consent: Written documentation, benefits/risks, VUS possibility, insurance discrimination (GINA), psychological impact

Are pre-test and post-test genetic counseling services available?*

Genetic counseling: Certified counselor (GC) or physician with genetics training; discuss results, family implications

Is patient data privacy protected per HIPAA with additional genetic data protections?*

Privacy: HIPAA compliance, GINA protections, state genetic privacy laws, data retention policies

6. Quality Control & Proficiency Testing

Are positive and negative controls run with every batch/run?*

QC controls: Known positive sample, wild-type negative, reagent blank; acceptance criteria defined

Is proficiency testing (PT) performed at least twice annually for each test?*

PT: CAP Surveys or alternative; blinded samples, no conferring, failure investigation within 30 days

Are variant databases (ClinVar, HGMD) referenced for interpretation and regularly updated?*

Variant databases: ClinVar for clinical significance, HGMD for published variants, population databases (gnomAD)

Please answer all required questions to see your results