{"title":"迟发性疾病和患者教育:多基因风险评分调节的额外考虑。","authors":"Alexandra Midler","doi":"10.1136/jme-2024-110688","DOIUrl":null,"url":null,"abstract":"<p><p>In a recent article, Haining <i>et al</i> outline several ethical and regulatory considerations for polygenic risk scores (PRSs), which may expand current embryonic screening to include polygenic diseases and non-disease traits. I argue in this response that the authors overlook a few crucial issues that nations should address. For adult-onset diseases, regulations must not only account for predictive accuracy of PRSs but also establish the precise circumstances that warrant testing-such as a disease's severity and the average age at which symptoms manifest. I later stress the need for more consideration of how to educate patients on manageable diseases that their embryos are at risk of later developing. Required information must correct social biases without compromising genetic counsellors' impartiality. Drawing on global approaches to other embryonic genetic tests, I advocate for frameworks that protect patients' autonomy while addressing the unique uncertainties posed by PRSs.</p>","PeriodicalId":16317,"journal":{"name":"Journal of Medical Ethics","volume":" ","pages":""},"PeriodicalIF":3.3000,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Late-onset diseases and patient education: additional considerations for polygenic risk score regulation.\",\"authors\":\"Alexandra Midler\",\"doi\":\"10.1136/jme-2024-110688\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In a recent article, Haining <i>et al</i> outline several ethical and regulatory considerations for polygenic risk scores (PRSs), which may expand current embryonic screening to include polygenic diseases and non-disease traits. I argue in this response that the authors overlook a few crucial issues that nations should address. For adult-onset diseases, regulations must not only account for predictive accuracy of PRSs but also establish the precise circumstances that warrant testing-such as a disease's severity and the average age at which symptoms manifest. I later stress the need for more consideration of how to educate patients on manageable diseases that their embryos are at risk of later developing. Required information must correct social biases without compromising genetic counsellors' impartiality. Drawing on global approaches to other embryonic genetic tests, I advocate for frameworks that protect patients' autonomy while addressing the unique uncertainties posed by PRSs.</p>\",\"PeriodicalId\":16317,\"journal\":{\"name\":\"Journal of Medical Ethics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-01-11\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Ethics\",\"FirstCategoryId\":\"98\",\"ListUrlMain\":\"https://doi.org/10.1136/jme-2024-110688\",\"RegionNum\":2,\"RegionCategory\":\"哲学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ETHICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Ethics","FirstCategoryId":"98","ListUrlMain":"https://doi.org/10.1136/jme-2024-110688","RegionNum":2,"RegionCategory":"哲学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ETHICS","Score":null,"Total":0}
Late-onset diseases and patient education: additional considerations for polygenic risk score regulation.
In a recent article, Haining et al outline several ethical and regulatory considerations for polygenic risk scores (PRSs), which may expand current embryonic screening to include polygenic diseases and non-disease traits. I argue in this response that the authors overlook a few crucial issues that nations should address. For adult-onset diseases, regulations must not only account for predictive accuracy of PRSs but also establish the precise circumstances that warrant testing-such as a disease's severity and the average age at which symptoms manifest. I later stress the need for more consideration of how to educate patients on manageable diseases that their embryos are at risk of later developing. Required information must correct social biases without compromising genetic counsellors' impartiality. Drawing on global approaches to other embryonic genetic tests, I advocate for frameworks that protect patients' autonomy while addressing the unique uncertainties posed by PRSs.
期刊介绍:
Journal of Medical Ethics is a leading international journal that reflects the whole field of medical ethics. The journal seeks to promote ethical reflection and conduct in scientific research and medical practice. It features articles on various ethical aspects of health care relevant to health care professionals, members of clinical ethics committees, medical ethics professionals, researchers and bioscientists, policy makers and patients.
Subscribers to the Journal of Medical Ethics also receive Medical Humanities journal at no extra cost.
JME is the official journal of the Institute of Medical Ethics.