The term "next generation sequencing" (NGS) refers to genetic analyses that can sequence a very large number of DNA molecules in parallel. This is a further development of the previously established Sanger sequencing. Basically, NGS uses various methods of so-called clonal amplification, to amplify millions of DNA fragments massively parallel.

Therefore, the strength of the NGS lies in the rapid production of large amounts of data. Two application protocols are currently under consideration in the diagnostic context: In multi-gene panel analysis, the accumulation and amplification of patient DNA is limited to those genes that are likely to be involved on the basis of the patient's clinical symptoms or the suspected diagnosis of the corresponding doctor. 

During whole exome sequencing (WES) an unspecific enrichment and sequencing of all coding areas of the genome (which are summarized as exome) takes place. During whole genome sequencing (WGS) the entire genome is sequenced, including its non-coding areas. After a successful WES or WGS the information of the entire exome or genome is principally available. 

In addition, further methods of the so-called third generation are being developed, which can directly sequence individual molecules without prior amplification of individual DNA sections.

While the time required for sequencing has decreased a lot using NGS, the demands on interpretation have increased a great deal, since the analysis of such large amounts of data is very complex. An overview of the current methods, their possibilities and limits as well as the associated challenges is given in the third activity report of the Genetic Diagnostics Commission (GEKO) from April 2019.