Simon M Outram, Shannon Rego, Matthew Norstad, Sara Ackerman
{"title":"基因组测序结果再分析标准化的必要性:对基因组研究中未得到服务的家庭的访谈结果。","authors":"Simon M Outram, Shannon Rego, Matthew Norstad, Sara Ackerman","doi":"10.1007/s11673-023-10267-2","DOIUrl":null,"url":null,"abstract":"<p><p>The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.</p>","PeriodicalId":50252,"journal":{"name":"Journal of Bioethical Inquiry","volume":" ","pages":"95-104"},"PeriodicalIF":1.8000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.\",\"authors\":\"Simon M Outram, Shannon Rego, Matthew Norstad, Sara Ackerman\",\"doi\":\"10.1007/s11673-023-10267-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.</p>\",\"PeriodicalId\":50252,\"journal\":{\"name\":\"Journal of Bioethical Inquiry\",\"volume\":\" \",\"pages\":\"95-104\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Bioethical Inquiry\",\"FirstCategoryId\":\"98\",\"ListUrlMain\":\"https://doi.org/10.1007/s11673-023-10267-2\",\"RegionNum\":3,\"RegionCategory\":\"哲学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/8/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"ETHICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Bioethical Inquiry","FirstCategoryId":"98","ListUrlMain":"https://doi.org/10.1007/s11673-023-10267-2","RegionNum":3,"RegionCategory":"哲学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/25 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ETHICS","Score":null,"Total":0}
The Need to Standardize the Reanalysis of Genomic Sequencing Results: Findings from Interviews with Underserved Families in Genomic Research.
The reanalysis of genomic sequencing results has the potential to provide results that are of considerable medical and personal importance to recipients. Employing interviews with forty-seven predominantly medically underserved families and ethnographic observations we argue that there is pressing need to standardize the approach taken to reanalysis. Our findings highlight that study participants were unclear as to the likelihood of reanalysis happening, the process of initiating reanalysis, and whether they would receive revised results. Their reflections mirror the lack a specific focus upon reanalysis within consent and results sessions as observed in clinical settings. Mechanisms need to be put into place that standardize the approach to reanalysis in research and in clinical contexts. This would enable clinicians and genetic counsellors to communicate clearly with research participants with respect to potential for reanalysis of results and the process of reanalysis. We argue that that the role of reanalysis is too important to be referred to in an ad-hoc manner. Furthermore, the ad-hoc nature of the current process may increase health inequities given the likelihood that only those families who have the means to press for reanalysis are likely to receive it.
期刊介绍:
The JBI welcomes both reports of empirical research and articles that increase theoretical understanding of medicine and health care, the health professions and the biological sciences. The JBI is also open to critical reflections on medicine and conventional bioethics, the nature of health, illness and disability, the sources of ethics, the nature of ethical communities, and possible implications of new developments in science and technology for social and cultural life and human identity. We welcome contributions from perspectives that are less commonly published in existing journals in the field and reports of empirical research studies using both qualitative and quantitative methodologies.
The JBI accepts contributions from authors working in or across disciplines including – but not limited to – the following:
-philosophy-
bioethics-
economics-
social theory-
law-
public health and epidemiology-
anthropology-
psychology-
feminism-
gay and lesbian studies-
linguistics and discourse analysis-
cultural studies-
disability studies-
history-
literature and literary studies-
environmental sciences-
theology and religious studies