1,721,229 research outputs found
Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies
No full textWhole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies' Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process
Are couples making informed choices when opting for reproductive genetic carrier screening?
No full textResearch Fund Flanders (FWO) [G094518N
Are couples making informed choices when opting for reproductive genetic carrier screening?
No full textResearch Fund Flanders (FWO) [G094518N
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
No full textReproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone. After obtaining a written report of test results, participants were asked to complete an individual self-administered questionnaire. All participants (n = 67) felt they had enough information to make an informed choice. None of the participants regretted their choice to have RGCS. Test results were most often shared with parents (61%) or siblings (37%). Our findings demonstrate that the information/counseling and reporting strategy that was used in the context of this study led to high participant satisfaction, an increase in knowledge over time and favorable psychosocial and counseling-related outcomes.sponsorship: Research Fund Flandersstatus: Publishe
Author, Contributor or Just a Signer? A Quantitative Analysis of Authorship Trends in the Field of Bioethics
No full textPublications are primarily a means of communicating scientific information to colleagues, but they are much more than that. Publications in peer reviewed journals are proof of academic competence, are used as a crucial component in evaluation criteria for academic promotion and fundraising and increase the prestige of research centres and universities. The urgent need for publications has also led to abuses in authorship. In the past the single-author article was the rule, but over the past decades, the average number of authors on scientific manuscripts has drastically increased. In the field of bioethics, however, no research has been undertaken to study whether the percentage of single-author articles is decreasing, the proportion of multi-author articles is increasing or the average number of authors per article is increasing. The objective of this research is to analyze these trends in authorship for the period 1990-2003 in peer reviewed journals in the field of bioethics. In the nine peer reviewed journals from the field of bioethics we studied, we observed a significant increase of the multi-author article and of the average number of authors. This is mainly due to the increase in the number of publications with an empirical design. This growing trend is a challenge for the editors of journals in the field of bioethics to enhance awareness about the value and definition of authorship
Author, contributor or just a signer? A quantitative analysis of authorship trends in the field of bioethics
Full text linkPublications are primarily a means of communicating scientific information to colleagues, but they are much more than that. Publications in peer reviewed journals are proof of academic competence, are used as a crucial component in evaluation criteria for academic promotion and fundraising and increase the prestige of research centres and universities. The urgent need for publications has also led to abuses in authorship. In the past the single-author article was the rule, but over the past decades, the average number of authors on scientific manuscripts has drastically increased. In the field of bioethics, however, no research has been undertaken to study whether the percentage of single-author articles is decreasing, the proportion of multi-author articles is increasing or the average number of authors per article is increasing. The objective of this research is to analyze these trends in authorship for the period 1990-2003 in peer reviewed journals in the field of bioethics. In the nine peer reviewed journals from the field of bioethics we studied, we observed a significant increase of the multi-author article and of the average number of authors. This is mainly due to the increase in the number of publications with an empirical design. This growing trend is a challenge for the editors of journals in the field of bioethics to enhance awareness about the value and definition of authorship.status: Publishe
Readability of informed consent forms for whole-exome and whole-genome sequencing
Full text linkWhole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied. All forms studied seem to fail to meet the average recommended readability grade level of 8 (e.g. by Institutional Review Boards of US medical schools) for IC forms, indicating that the content of the forms may not be comprehensible to many patients. The sections aimed at health care professionals (HCPs) in the forms indicate that HCPs should be responsible for explaining IC information to the patients. However, WES and WGS may be increasingly offered by primary care professionals who may not (yet) have sufficient training to be able to communicate effectively with patients about genomics. Therefore, to secure an adequate, truly informed consent process, the task of developing good, legible examples of IC forms along with educating HCPs in genomics should be taken seriously, and adequate resources should be allocated to enable these tasks
Current Ethical Issues Related to the Implementation of Whole-Exome and Whole-Genome Sequencing
No full textWe have briefly discussed herein four of the many aspects that raise concerns in the context of implementation of whole-exome and whole-genome sequencing (mainly) in the clinical realm. Namely, we addressed issues surrounding: (1) the duty to hunt for variants known to have a health impact, (2) such “hunting” or opportunistic screening in children, (3) challenges to the consent process, and (4) the commercialization of genetic testing direct to consumer
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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