Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation

Introduction: Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues. Materials and methods: Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing. Results: Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia. Conclusions: Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared

EU gazetteer evaluation

This JRC technical report summarises the ELISE (European Location Interoperability Solutions for e-Government) activities in support to the development of an EU gazetteer. Most Member States have their own national gazetteer service so, if an EU gazetteer service is to be justified, there needs to be sufficient demand for pan-European applications or sufficient added value beyond existing national gazetteers. The ELISE Action of the ISA2 Programme carried out a survey in conjunction with EuroGeographics in 2018, aimed at understanding the demand-side and supply-side perspectives related to pan-European gazetteer data and services. The results clearly showed that there is demand for an EU gazetteer to support multi-national applications or complement existing national gazetteers, for purposes such as emergency response, searching for datasets, news items, or tourism / cultural heritage sites, validating foreign addresses, etc. This report further investigates two datasets on the pan-European level: Geographical names and Addresses as the most relevant datasets for the EU gazetteer. In the report we also analyse authoritative vs. volunteered spatial datasets. The results of the analysis showed that both data sources, official and volunteered, are complementary and mutually enhanced results can be obtained by combining the two. In addition, "Cultural Heritage Testbed" application has been developed with the aim to identify data, functionality gaps and improvements needed in different gazetteer solutions. The findings and possible applications were discussed with several existing use cases, with cross-border and pan-European coverage. Overall findings in this report can be used to justify the relevance and importance of Geographical names and Addresses datasets in the context of defining future high value datasets at an EU level.JRC.B.6-Digital Econom

PEDIA: prioritization of exome data by image analysis

Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. Results The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20–89% and the top 10 accuracy rate by more than 5–99% for the disease-causing gene. Conclusion Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis

PEDIA: prioritization of exome data by image analysis.

PURPOSE: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. METHODS: Here, we introduce an approach driven by artificial intelligence that uses portrait photographs for the interpretation of clinical exome data. We measured the value added by computer-assisted image analysis to the diagnostic yield on a cohort consisting of 679 individuals with 105 different monogenic disorders. For each case in the cohort we compiled frontal photos, clinical features, and the disease-causing variants, and simulated multiple exomes of different ethnic backgrounds. RESULTS: The additional use of similarity scores from computer-assisted analysis of frontal photos improved the top 1 accuracy rate by more than 20-89% and the top 10 accuracy rate by more than 5-99% for the disease-causing gene. CONCLUSION: Image analysis by deep-learning algorithms can be used to quantify the phenotypic similarity (PP4 criterion of the American College of Medical Genetics and Genomics guidelines) and to advance the performance of bioinformatics pipelines for exome analysis

Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.

OBJECTIVES: To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. PARTICPANTS AND METHODS: Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. RESULTS: A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. CONCLUSION: This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to men seeking PCa screening

Family history based approach in risk prediction for Parkinson's disease: Additional contribution of familial associated disorders

The aim of our study was to examine the contribution of family history of Parkinson's disease and its associated disorders in the assessment of predictive capacity of risk models for Parkinson’s disease. In a population of 192 patients with Parkinson’s disease and 1659 healthy individuals we investigated the impact of environmental factors and the effects of family history on Parkinson's disease risk. Pesticides exposure, positive family history of Parkinson’s disease and a positive family history of dementia and melanoma were associated to an increased risk for Parkinson’s disease, with results regarding family history of depression near to statistical significance. Smoking and caffeine intake were associated to a decreased risk for Parkinson’s disease. Three risk prediction models were assessed using the area under the curve approach: first model was based on known environmental risk factors, in the second model we added family history of Parkinson’s disease and in the third model we additionally included family history of dementia, melanoma and depression. We showed that inclusion of data on family history of associated disorders (AUC 0.76) improves predictive capacity of risk model for Parkinson’s disease in comparison with the first (AUC 0.62) and the second model (AUC 0.71). We concluded that family history of associated disorders: dementia, depression and melanoma improves predictive capacity of risk models for Parkinson’s disease