What methods are considered "extensive mapping"?
Currently, the use of Next Generation Sequencing (NGS) for total genomic sequencing (Whole Genome Sequencing, WGS), total exome sequencing (Whole Exome Sequencing, WES), or total RNA sequencing is included. This also applies to the above methods used on DNA/RNA from human tumors, as the results often reveal the genetic profile in the rest of the body.
However, gene sequencing of bacteria isolated from humans is not considered extensive mapping of an individual's genome.
Targeted sequencing, where the sequencing targets a limited number of defined genes, is also not covered by the term 'extensive mapping of an individual's genome.' This also applies to Genome Wide Association Studies (GWAS), conducted using SNP-arrays that investigate frequent gene variants. However, GWAS studies that also map rare variants that can have a high predictive value and thus be of significant importance to the participants are considered extensive mapping (e.g., Infinium Global Screening Array from Illumnia).
Epigenetic studies are considered extensive mapping of an individual's genome if random findings of significant importance for the investigated participant can be generated. Analyses that do not provide extensive sequence information are not included. This applies, for example, to the use of methylation assays (which investigate a limited part of CpG sites in the human genome). On the other hand, methods that include DNA sequencing by NGS of a large number of areas in the genome are considered to be extensive mapping (e.g., whole genome bisulfite sequencing, which can provide information about all CpG sites).
Even if extensive sequencing is not carried out, the committee system recommends following the principles in the genome guide if there is a risk of making unexpected findings (e.g., targeted investigation of a very large number of genes).