Key aspects to be included in the informed consent form for prenatal NGS
| Section | Detailed information |
| General concepts | The informed consent form should include definitions that help parents in understanding the procedure. This section should be very general in explaining what genes, NGS and ES/NGS panels are. |
| Object of analysis | This section should state the list of genes/panels included in the analysis. Parents must know that not all genes will be analysed if such is the case. The approach (single ES/duo/trio) should also be included. Confirmation and segregation studies could be needed and, therefore, should be explained in the consent form. |
| Limitations | Any limitation to the test should be included to avoid misinterpretation of the process and results for variant detection (intronic information that should not be disclosed, low coverage regions, uncovered genes, variants that cannot be detected by NGS, etc) and for phenotypic interpretation (insufficient or incorrect prenatal phenotype information, among others). |
| Place of sequencing and analysis (including GDPR) | Parents must know where their samples are going to be processed and analysed, as well as the place of storage of both samples and data. They must be aware that everything is performed according to the GDPR). Expected storage period (years) for samples and data (for reanalysis reasons) should be included. |
| Variants to be detected | Informed consent should explain which are the expected results of a prenatal NGS analysis, including benign or pathogenic variants, CNVs, incidental findings and carrier status information. The informed consent must describe how the laboratory will deal with these findings and how they will be explained to the parents. Parents need to know that some findings could bear familial consequences, including variants carried among family members, consanguinity and/or non-paternity issues. |
| Consent | Parents should approve the use of the prenatal (pregnant only)/parental data (both parents) for such analysis. Any other use of samples or data should be specifically approved in the consent form. If the centre offers them (according to the tiers in figure 1), parents must choose if they want to disclose further information for incidental and/or uncertain data (including secondary findings). |
ES, exome sequencing; GDPR, General Data Protection Regulation; NGS, next-generation sequencing.