The anonymity of results based on genome data must always be assessed on a case-by-case basis.
1. Rare individual genetic variations
Publishing rare significant genetic findings is as a rule permitted if the variation is found in at least three individuals. If fewer than three individuals share the variation, the exact number should be concealed.
When publishing such findings, particular attention must be paid to the risk of identification. A minimum frequency threshold of n=3 may help reduce this risk, but its sufficiency should be evaluated in each case. The smaller the target group and the more background information is provided (such as phenotype or geographical origin) the higher the risk of identifying individuals.
When publishing results related to individual subjects, you must not include:
- exact age,
- a detailed description of the subject’s phenotype,
- medical history,
- the exact geographical area where the subjects were collected, or
- any other information that could compromise the anonymity of the subjects.
Details of the genetic variation may be published if they are already available in public variant databases, including:
- allele frequency,
- clinical significance of the variant,
- rsID identifying the variant, or
- the research method used to identify it.
Table 2 provides an example of how to publish rare genetic findings.
| Causal gene | Disorder | Patient N | Zygosity of variant | Reference transcript | DNA variant | Protein variant | Molecular consequence | Pathogenicity classification | db SNP ID | gnomAD MAF, European | gnomAD MAF, Finnish | SpliceAI | phyloP | CADD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA2 | Lung cancer | <3 | Heterozygous | NM_004431.5 | c.1171G>C | p.Gly291Arg | missense variant | Likely pathogenic | rs34192549 | 0.01679 | 0.00947 | 0.0100 | 0.135 | 6.37 |
| NRAS | Lung cancer | 5 | Heterozygous | NM_002524.5 | c.183A>C | p.Gln61His | missense variant | Pathogenic/Likely pathogenic | rs121913255 | NA | NA | NA | NA | NA |
| DDR2 | Lung cancer | <3 | Heterozygous | NM_006182.4 | c.716T>G | p.Leu239Arg | missense variant | Likely pathogenic | rs578015216 | 0.000 | 0.000 | 0.000 | 6,32 | 24.5 |
Genetic variations not present in the individual’s own genome
Time-bound genetic mutations that do not occur in the subject’s genome, such as those found in cancer tumours, may be published at an individual level. However, extra caution must be taken to ensure individuals cannot be identified.
When publishing results related to individual subjects, you must not include:
- exact age,
- a detailed description of the subject’s phenotype,
- medical history,
- the exact geographical area where the subjects were collected, or
- any other information that could compromise the anonymity of the subjects.
Where possible, results should be presented in grouped form based on mutation or person classifications.
3. Genealogical research
When publishing genealogical results, the anonymity of extended family members must be ensured. Hereditary genetic changes identified through genealogical studies may be presented as pedigrees, as illustrated in Figure 1.
When presenting persons in a pedigree, you cannot include any other detailed background information about them, such as:
- age,
- time of discovery of the genetic changes,
- geographical area from which the genealogical history has been collected, or
- any other information that endangers the anonymity of the family.
The more detailed the information, the greater the risk of identification. In cases of very rare diseases, it is possible that a pedigree cannot be published in anonymous format.
