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Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

Item does not contain fulltext Since the first map of the human genome was published in 2001 our knowledge about our genetic code has increased exponentially. In addition to high-risk genes for monogenic diseases, such as Huntington's disease and cystic fibrosis, for a number of common diseases, such as breast cancer and cardiovascular disease, many genetic variants that each have a slight increased-risk effect, have been identified via genome-wide association studies (GWAS). A polygenic risk score (PRS) can be calculated on the basis of these single-nucleotide polymorphisms (SNPs), by which an increasingly accurate prediction can be made of an individual's risk for diseases. The results of epidemiological studies in which a PRS is used to predict an individual's total genetic risk for particular diseases are promising. In the future, the PRS could be a valuable addition to traditional monogenic tests. It is, however, important that the predictive value of a genetic risk profile increases further and that it becomes more clear how a clinician must interpret this type of genetic profile - in combination with traditional risk factors.

Objective To obtain more insight into the process of potential implementation of a screening program, which aims to identify carriers of cystic fibrosis and haemoglobinopathies before pregnancy, in order to enable couples at high risk of having a child with these disorders, to make informed reproductive decisions. Methods Use of sociotechnical analysis, based on a model of co-evolution between technology and society, and, for comparison, the study of the implementation processes of two already existing health care programs with similar aspects to the screening program at issue. Results Factors important for success appeared to be the existence of sociotechnical niches, in which technological options can be developed and studied in an experimental setting; a structural approach of providing information to future parents; a party that can articulate demand; governmental involvement in the attunement between various stakeholders; and a screening infrastructure in which large-scale DNA diagnostic services are available. Conclusions Successful implementation of preconceptional carrier screening for cystic fibrosis and haemoglobinopathies will depend on changes at both regime and landscape level, including the establishment of a new preconceptional health care setting and a clearly visible public health authority which can coordinate, monitor and evaluate such an initiative in public health care.

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.European Journal of Human Genetics advance online publication, 18 March 2015; doi:10.1038/ejhg.2015.57. ispartof: European Journal of Human Genetics vol:23 issue:11 pages:1438-50 ispartof: location:England status: published

Contains fulltext : 57090.pdf (Publisher’s version ) (Closed access) To determine the attitudes of potential providers (general practitioners and Community Health Service workers) towards preconceptual cystic fibrosis (CF) carrier screening and to determine which factors are associated with a positive attitude. A survey was conducted among 200 general practitioners (GPs) and 134 Community Health Service (CHS) workers. Fifty-two percent of the eligible GPs participated and 84% of the CHS workers. Fifty-five percent of the GPs and 73% of the CHS workers had a positive attitude towards routinely offering CF carrier screening, and more than 80% were in favor of informing the target population about the possibility of having a CF carrier test. A positive attitude was associated with (a) high perceived severity of CF, (b) religion (nonreligious compared to Reformed), (c) low perceived barriers, and (d) high perceived test reliability. The care providers who are most likely to be involved in a preconceptual CF carrier screening program, i.e. GPs and CHS workers, generally have a positive attitude towards the implementation of such a program.

Objective The aim of this study was to investigate health professionals' opinions toward offering noninvasive prenatal testing (NIPT) as first-tier screening test regardless of pregnant women's risk, and toward a potential broader range of disorders. Methods A questionnaire completed by obstetric health professionals (n = 240) after an in-service NIPT training in the West and North of the Netherlands. Results The majority (72%) of respondents favored replacing first-trimester combined test (FCT) by NIPT, although 43% preferred to maintain nuchal translucency measurement. Many respondents believed that replacing FCT by NIPT would only have advantages (57%), would lead to more pregnant women opting for prenatal testing (69%), and would simplify counseling (47%). Differences in attitudes toward counseling between health professionals were observed. When considering NIPT to screen for broader range of disorders, the majority (92%) thought that this should include disorders characterized by neonatal death, whereas 52% of the respondents favored testing for fetomaternal risk factors. Overall, 46% thought screening should be offered as a fixed list of disorders. Conclusion Most health professionals favor NIPT instead of FCT but prefer to maintain nuchal translucency measurement. If NIPT becomes available as a first-tier screening test, attention remains necessary to ensure that pregnant women make well-informed decisions in line with the aim of prenatal screening.

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.