Clinical exome sequencing is currently being used in diagnostics of various genetic disorders, but studies supporting its application in clinical setting are scarce. The aim of this study was to establish diagnostic and clinical utility of clinical exome sequencing in patients with moderate and severe global developmental delay/intellectual disability. Clinical diagnosis was made in 49 of 88 investigated patients, with overall diagnostic yield of 55.7%. Molecular findings are characterized in detail, including the impact of newly made diagnosis on clinical management. Several previously unreported genotype-phenotype correlations and 33 novel variants are described. Genetic and clinical data were shared through publicly available database. In conclusion, clinical exome sequencing allows identification of causative variants in a significant proportion of patients in investigated clinical subgroup. Compared to whole exome sequencing, it shows similar diagnostic and clinical utility with reduced costs, which could be of particular importance for institutions with limited resources.
Background Past decades have witnessed enormous progress in the field of genetics and genomics, and yet a low level of awareness among general public has been described. Our aim was to explore the general populations’ knowledge, attitudes and behaviors towards genomic sciences, with a focus on direct-to-consumer genetic tests (DTC-GTs). DTC-GTs are genetic tests ordered directly by the public, without the involvement of a healthcare provider. Methods Two systematic reviews were conducted related to citizens’ knowledge, attitudes and behaviours. Firstly, we updated the current literature on DTC-GTs by searching PubMed, Web of Science, Embase, Scopus and Google Scholar. Studies published in English from October 2014 to January 2019, conducted in Europe were included. Secondly, we searched PubMed, Web of Science and Embase to review English and Italian studies on genomic sciences from 2003 to 2019. Results In the systematic review on DTC-GTs, we included six studies from Italy, Greece, Germany, The Netherlands and Switzerland. European citizens had an overall low level of awareness and a very small proportion of them had personal experience with DTC-GTs. More than half of the participants were interested in undergoing a DTC-GT, mainly for knowing the risk predisposition to a common disease such as cancer or cardiovascular disease. Concerns were raised about tests’ validity and utility as well as data privacy. In the systematic review on genomic sciences, 55 studies were included. The data extraction process is still in progress and our preliminary results indicate low levels of awareness on genomics. Conclusions Our findings showed that European citizens have a modest level of awareness and a high interest in DTC-GT. Understanding the citizens’ perspectives toward genomic sciences may contribute to the development of educational programs related to their needs. Key messages European citizens expressed modest levels of awareness and high levels of interest in DTC-GTs, mainly for knowing the risk predisposition to common diseases. European citizens are concerned with the data privacy and DTC-GT’s validity and utility.
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