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Genomic analysis and evidence report
Genetic testing was performed to investigate whether a known genetic cause could explain this child’s respiratory condition.
The testing focused on a specific group of genes that are known, based on current medical knowledge, to be associated with conditions such as chronic cough, recurrent chest infections, or bronchiectasis.
A genetic result is only meaningful if it is clear what was tested, what was found, and whether sufficient evidence was available to independently interpret the result responsibly.
What was tested and what was found
Reports what genetic testing was performed, which genes were examined, and what result was identified.
Whether the result can be trusted
Evaluates whether sufficient scientific and technical evidence was openly available to interpret the genetic analysis responsibly.
Section 1. Genetic analysis report
Provided by: Diagnostic laboratory
Scope: Clinical genetic analysis
Genetic result summary
★ Part of main findingPanel analysed: Non-Cystic Fibrosis bronchiectasis
Number of genes screened: 18
No qualifying pathogenic or likely pathogenic variant was identified in any gene within the tested panel under the applied analysis protocol.
- Positive A qualifying variant in a known disease associated gene is identified.
- Negative No qualifying pathogenic or likely pathogenic variant is identified.
What this section explains
This section explains what genetic testing was performed and what the result was.
It describes the group of genes that were analysed, why they were chosen, and whether any clinically relevant genetic variant was identified.
Examples of genes included in this panel Read more
Genetic testing for bronchiectasis uses a panel of genes rather than a single gene. Each gene is included because changes in that gene are known to affect airway health in different ways.
The examples below illustrate why some genes were included. They are not the full list.
| Gene | Why it was included | What a finding could explain |
|---|---|---|
| CFTR | Included to assess cystic fibrosis related mechanisms that can cause bronchiectasis even when classic cystic fibrosis is not present. | Thick airway mucus and chronic infection due to impaired salt and water transport. |
| DAW1 | Included because it affects the assembly of motile cilia in the airways. | Reduced mucus clearance, leading to recurrent chest infections. |
| DNAH5 | Included as a common cause of ciliary dysfunction affecting airway movement. | Poor ciliary motion causing chronic wet cough and bronchiectasis. |
Together, the full panel covers genes involved in mucus regulation, immune defence, and ciliary movement.
Technical details Read more
Genetic analysis was performed using a predefined, versioned gene panel. This ensures that the same set of genes and inclusion criteria can be applied consistently across cases.
| Reference genome | GRCh38 |
|---|---|
| Gene panel | Non-Cystic Fibrosis bronchiectasis (panel 296) |
| Genes screened | 18 |
| Analysis pipeline | QV Mendelian rare disease |
| Variant interpretation | Qualifying Variant framework |
| Analysis software | GATK, Exomiser, QV |
| Panel governance | Versioned, publicly auditable |
Section 2. Qualifying evidence report
Supported by: Swiss Genomics Association
Scope: Verification of evidence sufficiency
Evidence sufficiency score
★ Part of main findingEvidence sufficiency (θ): 0.81 ✓ Pass
95% credible interval: 0.63 to 0.93 ✓ Pass
Genome wide percentile: 99.8
This score indicates that most required evidence elements were available to independently interpret the genetic analysis. This score does not imply that any specific genetic finding explains disease.
- ✓ Pass / ✕ Fail Independent verifiable evidence is considered sufficient when the evidence sufficiency value (θ) and its credible interval exceed the predefined minimum threshold required for responsible interpretation.
- 0.00 to 1.00 An evidence sufficiency (θ) value closer to one reflects a more complete and verifiable body of available evidence for interpreting this variant.
- 0 to 100 A higher genome wide percentile indicates that the available evidence for this variant is more complete relative to other variants evaluated. If evidence is strong across many variants, this percentile may be lower without implying weaker support.
What this section explains
This section explains whether sufficient scientific and technical evidence was available to interpret the genetic test responsibly.
It does not assess diagnosis or disease severity. It evaluates the completeness and reliability of the test itself.
Because a uniform community standard is applied, the evidence sufficiency score is independent of the genetic analysis provider or technology used and can be verified by other institutions.
Example evidence checks Read more
| Evidence question | Answer |
|---|---|
| Were all required DNA positions sequenced | ✓ Yes |
| Was the full quanlifying variant set covered | ✓ Yes |
| Was a family trio genotype analysed | ✕ No |
| ... | ... |
Technical details Read more
Evidence sufficiency was evaluated using the quantbayes framework. This framework quantifies evidence availability using a formal probabilistic model.
The assessment applies a complete Qualifying Evidence Matrix defined as a community standard and maintained under version control by the Swiss Genomics Association.
| Evidence framework | QuantBayes |
|---|---|
| Qualifying Evidence Matrix | SGA QEM (panel specific) |
| Evidence standard | SGA ERRS 1.0 |
| Standard governance | Community maintained, version controlled |