In their Policy Forum “Toward unrestricted use of public genomic data” (25 January, p. 350), R. I... more In their Policy Forum “Toward unrestricted use of public genomic data” (25 January, p. 350), R. I. Amann et al. argue that once data has been cleared for release to the public domain by institutions, it should be open for use without further restrictions. However, they neglect the key point that researchers and their institutions are entrusted by research participants, funders, and others with weighing the pros and cons of public data release. By suggesting that informed consent can provide a straightforward path to data release, they overlook evidence that once people understand their options, only a little more than half opt for open data sharing, and some refuse data sharing altogether.
Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently ... more Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries,
Genetics in medicine : official journal of the American College of Medical Genetics, Jan 21, 2016
Genomic data sharing is vital for optimizing the use of public-funded research data. Data access ... more Genomic data sharing is vital for optimizing the use of public-funded research data. Data access committees (DACs) have been introduced as a core component of governance in controlled-access models. However, the tasks, structure, and functionality of DACs often remain unstudied. This article investigates the role and adequacy of DACs in access reviews from the perspective of DAC members and experts. Twenty semi-structured interviews were conducted with both DAC members engaged in genomic data sharing via controlled-access databases and experts in the field. The respondents indicated that protecting the privacy of data subjects along with recognition of data producers' efforts are the main underlying reasons of access review and the controlled-access model. In reviewing the ethical basis and the scientific aspects of access requests, tools and mechanisms such as consent forms, data access agreements, and guidelines have been used. Nevertheless, DAC members and experts identified ...
European journal of human genetics : EJHG, Jan 29, 2015
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Ca... more Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Caucasians. As most CF patients have no family history of the disorder, carrier screening for CF has the potential to prospectively identify couples at risk of conceiving an affected child. At-risk couples may consequently choose to act on the provided information and take steps to avoid the birth of a child with CF. Although carrier screening is widely believed to enhance reproductive autonomy of prospective parents, the practice also raises important ethical questions. A written questionnaire was administered to adult patients and parents of children with CF with the aim to explore participants' attitudes toward CF carrier screening and related reproductive issues. The study population was recruited from a CF patient registry in Belgium and comprised 111 participants (64 parents, 47 patients aged 16 or older). We found that more than 80% of all participants were in favor of preconcep...
ABSTRACT Aims: Various companies are currently advertising or selling genetic tests over the inte... more ABSTRACT Aims: Various companies are currently advertising or selling genetic tests over the internet using a model of provision referred to as ‘direct-to-consumer’ (DTC). This commercial offer of DTC genetic testing (GT) has fueled a number of scientific, ethical and policy debates. To date there have been few studies published regarding the users’ perspective. This study aimed to obtain information regarding the issues raised by individuals who signed a petition in support of DTC GT and the ‘unrestricted’ access to their genetic information. Materials & methods: We conducted qualitative content analysis of comments written by individuals who signed a public online petition initiated by DIYgenomics (CA, USA) to support “personal access to genetic information”. Results: Of the 523 individuals who signed the petition sponsored by DIYgenomics, 247 individuals also wrote individual comments. A content analysis of these comments reveals that petitioners raised six main issues in support of unrestricted access to DTC GT: that their ownership of their DNA should allow them to have unrestricted access to their genomic information; that they should have the right to their genomic information; that the government has no place in (further) regulating DTC GT; that healthcare professionals should not be placed as intermediaries when purchasing DTC GT services; that many petioners who had already obtained DTC GT had positive experiences with this model of provision; and that genealogy or ancestry DNA testing is one of the main activities petitioners wish to have ‘unrestricted’ or ‘direct’ access. Conclusion: These results give insight into why individuals may support unrestricted access to their genomic information and confirm some of the motivations of users for purchasing DTC GT. Our analysis also brings to the forefront themes that have been raised less often in empirical studies involving motivations to purchase DTC GT services; these include the strongly held beliefs of some petitioners that, since they own their DNA, they should have the right to access the information without (further) government control or physician involvement. Interestingly, the comments left by petitioners also reveal a certain distrust of governmental agencies and healthcare professionals. This urges us to further study the public’s views of these services and the potential impact of these views in order to responsibly address the ongoing debate on DTC GT.
In order to study the relationship between genes and diseases, the increasing availability and sh... more In order to study the relationship between genes and diseases, the increasing availability and sharing of phenotypic and genotypic data have been promoted as an imperative within the scientific community. In parallel with data sharing practices by clinicians and researchers, recent initiatives have been observed in which individuals are sharing personal genomic data. The involvement of individuals in such initiatives is facilitated by the increased accessibility of personal genomic data, offered by private test providers along with availability of online networks. Personal webpages and on-line data sharing platforms such as Consent to Research (Portable Legal Consent), Free the Data, and Genomes Unzipped are being utilized to host and share genotypes, electronic health records and family history uploaded by individuals. Although personal genomic data sharing initiatives vary in nature, the emphasis on the individuals' control on their data in order to benefit research and ultimately health care has seen as a key theme across these initiatives. In line with the growing practice of personal genomic data sharing, this paper aims to shed light on the potential challenges surrounding these initiatives. As in the course of these initiatives individuals are solicited to individually balance the risks and benefits of sharing their genomic data, their awareness of the implications of personal genomic data sharing for themselves and their family members is a necessity. Furthermore, given the sensitivity of genomic data and the controversies around their complete de-identifiability, potential privacy risks and harms originating from unintended uses of data have to be taken into consideration.
The objective of this article is to review the attitudes of the different stakeholders (minors, h... more The objective of this article is to review the attitudes of the different stakeholders (minors, healthcare professionals, parents and relatives of affected individuals) towards carrier testing in minors. The databases Pubmed, Google Scholar, Psychinfo, Biological Abstracts, Francis, Anthropological Index online, Web of Science, and Sociological Abstracts were searched using key words for the period 1990-2004. Studies were included if they were published in a peer reviewed journal in English and described the attitudes of minors, parents or healthcare professionals towards carrier testing in minors in a family context. The results were presented in a summary form. In total 20 relevant studies were retrieved (2 studies reported the attitudes of two stakeholders). Only one study reported the attitudes of adolescents, two studies reported the attitudes of adults who had undergone carrier testing in childhood. In total six studies have been retrieved discussing the parental attitudes tow...
Living-donor kidney and liver transplantation intend to improve pediatric recipients&... more Living-donor kidney and liver transplantation intend to improve pediatric recipients' psychosocial well-being, but psychosocial impact in recipients strongly depends upon the impact on the donor and the quality of family relations. We systematically reviewed quantitative and qualitative studies addressing the psychosocial impact of pediatric living-donor kidney and liver transplantation in recipients, donors, and the family. In accordance with the PRISMA guidelines, we systematically searched the databases Medline, Web of Knowledge, Cinahl, Embase, ERIC, and Google Scholar. We identified 23 studies that satisfied our inclusion criteria. Recipients had improved coping skills and satisfactory peer relationships, but also reported anxiety and depressive symptoms, worried about the future, and had a negative body image. Similarly, donors experienced increased self-esteem, empowerment, and community awareness, but also complained of postoperative pain and a lack of emotional support. With respect to family impact, transplantation generated a special bond between the donor and the recipient, characterized by gratitude and admiration, but also raised new expectations concerning the recipient's lifestyle. As psychological problems in recipients were sometimes induced by feelings of guilt and indebtedness toward the donor, we recommend more research on how gift exchange dynamics function within donor-recipient relationships, enrolling donors and recipients within the same study.
European journal of human genetics : EJHG, Jan 18, 2015
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsibl... more 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 t...
This 'issues paper' was generated through a 'virtual workshop process' over the course of several... more This 'issues paper' was generated through a 'virtual workshop process' over the course of several months. The authors first outlined relevant issues and key literature. A draft was then distributed, comments were received, and a revised draft was circulated among authors for approval. The use of a 'virtual workshop process' shaped both the tone and coverage of this article, though we hope in a way that still provides a detailed and useful summary of central issues on this topic. We believe that this paper-the collaborative work of globally situated ELSI researchers-exemplifies 'ELSI 2.0' (Jane Kaye et al., Research Priorities. ELSI 2.0 for Genomics and Society, 336 Science 673 (2012)).
How has the interface between genetics and assisted reproduction technology (ART) evolved since 2... more How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics...
Introducing data sharing practices into the genomic research arena has challenged the current mec... more Introducing data sharing practices into the genomic research arena has challenged the current mechanisms established to protect rights of individuals and triggered policy considerations. To inform such policy deliberations, soliciting public and research participants' attitudes with respect to genomic data sharing is a necessity. The main electronic databases were searched in order to retrieve empirical studies, investigating the attitudes of research participants and the public towards genomic data sharing through public databases. In the 15 included studies, participants' attitudes towards genomic data sharing revealed the influence of a constellation of interrelated factors, including the personal perceptions of controllability and sensitivity of data, potential risks and benefits of data sharing at individual and social level and also governance level considerations. This analysis indicates that future policy responses and recruitment practices should be attentive to a wide variety of concerns in order to promote both responsible and progressive research.
In their Policy Forum “Toward unrestricted use of public genomic data” (25 January, p. 350), R. I... more In their Policy Forum “Toward unrestricted use of public genomic data” (25 January, p. 350), R. I. Amann et al. argue that once data has been cleared for release to the public domain by institutions, it should be open for use without further restrictions. However, they neglect the key point that researchers and their institutions are entrusted by research participants, funders, and others with weighing the pros and cons of public data release. By suggesting that informed consent can provide a straightforward path to data release, they overlook evidence that once people understand their options, only a little more than half opt for open data sharing, and some refuse data sharing altogether.
Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently ... more Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries,
Genetics in medicine : official journal of the American College of Medical Genetics, Jan 21, 2016
Genomic data sharing is vital for optimizing the use of public-funded research data. Data access ... more Genomic data sharing is vital for optimizing the use of public-funded research data. Data access committees (DACs) have been introduced as a core component of governance in controlled-access models. However, the tasks, structure, and functionality of DACs often remain unstudied. This article investigates the role and adequacy of DACs in access reviews from the perspective of DAC members and experts. Twenty semi-structured interviews were conducted with both DAC members engaged in genomic data sharing via controlled-access databases and experts in the field. The respondents indicated that protecting the privacy of data subjects along with recognition of data producers' efforts are the main underlying reasons of access review and the controlled-access model. In reviewing the ethical basis and the scientific aspects of access requests, tools and mechanisms such as consent forms, data access agreements, and guidelines have been used. Nevertheless, DAC members and experts identified ...
European journal of human genetics : EJHG, Jan 29, 2015
Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Ca... more Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting ~1 in 2500-4000 Caucasians. As most CF patients have no family history of the disorder, carrier screening for CF has the potential to prospectively identify couples at risk of conceiving an affected child. At-risk couples may consequently choose to act on the provided information and take steps to avoid the birth of a child with CF. Although carrier screening is widely believed to enhance reproductive autonomy of prospective parents, the practice also raises important ethical questions. A written questionnaire was administered to adult patients and parents of children with CF with the aim to explore participants' attitudes toward CF carrier screening and related reproductive issues. The study population was recruited from a CF patient registry in Belgium and comprised 111 participants (64 parents, 47 patients aged 16 or older). We found that more than 80% of all participants were in favor of preconcep...
ABSTRACT Aims: Various companies are currently advertising or selling genetic tests over the inte... more ABSTRACT Aims: Various companies are currently advertising or selling genetic tests over the internet using a model of provision referred to as ‘direct-to-consumer’ (DTC). This commercial offer of DTC genetic testing (GT) has fueled a number of scientific, ethical and policy debates. To date there have been few studies published regarding the users’ perspective. This study aimed to obtain information regarding the issues raised by individuals who signed a petition in support of DTC GT and the ‘unrestricted’ access to their genetic information. Materials & methods: We conducted qualitative content analysis of comments written by individuals who signed a public online petition initiated by DIYgenomics (CA, USA) to support “personal access to genetic information”. Results: Of the 523 individuals who signed the petition sponsored by DIYgenomics, 247 individuals also wrote individual comments. A content analysis of these comments reveals that petitioners raised six main issues in support of unrestricted access to DTC GT: that their ownership of their DNA should allow them to have unrestricted access to their genomic information; that they should have the right to their genomic information; that the government has no place in (further) regulating DTC GT; that healthcare professionals should not be placed as intermediaries when purchasing DTC GT services; that many petioners who had already obtained DTC GT had positive experiences with this model of provision; and that genealogy or ancestry DNA testing is one of the main activities petitioners wish to have ‘unrestricted’ or ‘direct’ access. Conclusion: These results give insight into why individuals may support unrestricted access to their genomic information and confirm some of the motivations of users for purchasing DTC GT. Our analysis also brings to the forefront themes that have been raised less often in empirical studies involving motivations to purchase DTC GT services; these include the strongly held beliefs of some petitioners that, since they own their DNA, they should have the right to access the information without (further) government control or physician involvement. Interestingly, the comments left by petitioners also reveal a certain distrust of governmental agencies and healthcare professionals. This urges us to further study the public’s views of these services and the potential impact of these views in order to responsibly address the ongoing debate on DTC GT.
In order to study the relationship between genes and diseases, the increasing availability and sh... more In order to study the relationship between genes and diseases, the increasing availability and sharing of phenotypic and genotypic data have been promoted as an imperative within the scientific community. In parallel with data sharing practices by clinicians and researchers, recent initiatives have been observed in which individuals are sharing personal genomic data. The involvement of individuals in such initiatives is facilitated by the increased accessibility of personal genomic data, offered by private test providers along with availability of online networks. Personal webpages and on-line data sharing platforms such as Consent to Research (Portable Legal Consent), Free the Data, and Genomes Unzipped are being utilized to host and share genotypes, electronic health records and family history uploaded by individuals. Although personal genomic data sharing initiatives vary in nature, the emphasis on the individuals' control on their data in order to benefit research and ultimately health care has seen as a key theme across these initiatives. In line with the growing practice of personal genomic data sharing, this paper aims to shed light on the potential challenges surrounding these initiatives. As in the course of these initiatives individuals are solicited to individually balance the risks and benefits of sharing their genomic data, their awareness of the implications of personal genomic data sharing for themselves and their family members is a necessity. Furthermore, given the sensitivity of genomic data and the controversies around their complete de-identifiability, potential privacy risks and harms originating from unintended uses of data have to be taken into consideration.
The objective of this article is to review the attitudes of the different stakeholders (minors, h... more The objective of this article is to review the attitudes of the different stakeholders (minors, healthcare professionals, parents and relatives of affected individuals) towards carrier testing in minors. The databases Pubmed, Google Scholar, Psychinfo, Biological Abstracts, Francis, Anthropological Index online, Web of Science, and Sociological Abstracts were searched using key words for the period 1990-2004. Studies were included if they were published in a peer reviewed journal in English and described the attitudes of minors, parents or healthcare professionals towards carrier testing in minors in a family context. The results were presented in a summary form. In total 20 relevant studies were retrieved (2 studies reported the attitudes of two stakeholders). Only one study reported the attitudes of adolescents, two studies reported the attitudes of adults who had undergone carrier testing in childhood. In total six studies have been retrieved discussing the parental attitudes tow...
Living-donor kidney and liver transplantation intend to improve pediatric recipients&... more Living-donor kidney and liver transplantation intend to improve pediatric recipients' psychosocial well-being, but psychosocial impact in recipients strongly depends upon the impact on the donor and the quality of family relations. We systematically reviewed quantitative and qualitative studies addressing the psychosocial impact of pediatric living-donor kidney and liver transplantation in recipients, donors, and the family. In accordance with the PRISMA guidelines, we systematically searched the databases Medline, Web of Knowledge, Cinahl, Embase, ERIC, and Google Scholar. We identified 23 studies that satisfied our inclusion criteria. Recipients had improved coping skills and satisfactory peer relationships, but also reported anxiety and depressive symptoms, worried about the future, and had a negative body image. Similarly, donors experienced increased self-esteem, empowerment, and community awareness, but also complained of postoperative pain and a lack of emotional support. With respect to family impact, transplantation generated a special bond between the donor and the recipient, characterized by gratitude and admiration, but also raised new expectations concerning the recipient's lifestyle. As psychological problems in recipients were sometimes induced by feelings of guilt and indebtedness toward the donor, we recommend more research on how gift exchange dynamics function within donor-recipient relationships, enrolling donors and recipients within the same study.
European journal of human genetics : EJHG, Jan 18, 2015
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsibl... more 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 t...
This 'issues paper' was generated through a 'virtual workshop process' over the course of several... more This 'issues paper' was generated through a 'virtual workshop process' over the course of several months. The authors first outlined relevant issues and key literature. A draft was then distributed, comments were received, and a revised draft was circulated among authors for approval. The use of a 'virtual workshop process' shaped both the tone and coverage of this article, though we hope in a way that still provides a detailed and useful summary of central issues on this topic. We believe that this paper-the collaborative work of globally situated ELSI researchers-exemplifies 'ELSI 2.0' (Jane Kaye et al., Research Priorities. ELSI 2.0 for Genomics and Society, 336 Science 673 (2012)).
How has the interface between genetics and assisted reproduction technology (ART) evolved since 2... more How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics...
Introducing data sharing practices into the genomic research arena has challenged the current mec... more Introducing data sharing practices into the genomic research arena has challenged the current mechanisms established to protect rights of individuals and triggered policy considerations. To inform such policy deliberations, soliciting public and research participants' attitudes with respect to genomic data sharing is a necessity. The main electronic databases were searched in order to retrieve empirical studies, investigating the attitudes of research participants and the public towards genomic data sharing through public databases. In the 15 included studies, participants' attitudes towards genomic data sharing revealed the influence of a constellation of interrelated factors, including the personal perceptions of controllability and sensitivity of data, potential risks and benefits of data sharing at individual and social level and also governance level considerations. This analysis indicates that future policy responses and recruitment practices should be attentive to a wide variety of concerns in order to promote both responsible and progressive research.
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