Next Generation Sequencing In Medical Care - Secondary Findings As An Economic Challenge?

Aim of study The aim is to evaluate the importance of Next Generation Sequencing (NGS) and the relevance of secondary findings in everyday clinical practice. This should allow an assessment of whether the economic consequences of secondary findings in clinical routine preclude an adoption of modern genetic testing.Methods Therefore a comprehensive literature search was carried out. At the same time, an online survey among human geneticists (n = 53) on the relevance of NGS methods and additional findings was conducted.Results The literature analysis shows that Whole Exome and Genome Sequencing (WES/WGS) is only used for a few selected patient groups. The occurrence probability of secondary findings is only discussed by a few publications and depends on the evaluation strategy of the raw data. Unless there is an explicit search for secondary findings, they do not seem to be frequent. This coincides with the data of the German geneticists, whereby the respondents expect a clear increase of genetic testing and secondary findings in the future.Conclusion Comprehensive gene testing has not been a mass phenomenon in everyday care, but can be assessed as an early micro innovation. Secondary findings can be minimized by focused evaluation strategies. Currently, diverse other challenges and the partly missing evidence of patient benefit are hindering adoption as a standard solution. Secondary findings and their portential costs do not yet play a critical role in the adoption process of this innovation.