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- Borry, Pascal, et al.
(författare)
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Legislation on direct-to-consumer genetic testing in seven European countries.
- 2012
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 20:7, s. 715-21
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Tidskriftsartikel (refereegranskat)abstract
- An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.
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- Howard, Heidi Carmen, et al.
(författare)
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Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
- 2015
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. ; 23:12, s. 1593-1600
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Tidskriftsartikel (refereegranskat)abstract
- The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.
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- Phillips, Amicia, et al.
(författare)
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Communicating genetic information to family members analysis of consent forms for diagnostic genomic sequencing
- 2020
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 28:9, s. 1160-1167
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Tidskriftsartikel (refereegranskat)abstract
- Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.
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- Vears, Danya F., et al.
(författare)
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Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms
- 2018
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 26:12, s. 1743-1751
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Tidskriftsartikel (refereegranskat)abstract
- There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients ? Should they reinterpret VUS in response to growing knowledge in the field ? And should patients be recontacted regarding such results ? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.
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