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针对与亲本亲缘关系相关的纯合性微阵列区域进行遗传咨询的不同方法。

Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.

作者信息

Grote Lauren, Myers Melanie, Lovell Anne, Saal Howard, Sund Kristen Lipscomb

机构信息

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Division of Clinical Genetics, The Children's Mercy Hospital, Kansas City, Missouri.

出版信息

Am J Med Genet A. 2014 Jan;164A(1):87-98. doi: 10.1002/ajmg.a.36206. Epub 2013 Nov 15.

Abstract

SNP microarrays are capable of detecting regions of homozygosity (ROH) which can suggest parental relatedness. This study was designed to describe pre- and post-test counseling practices of genetics professionals regarding ROH, explore perceived comfort and ethical concerns in the follow-up of such results, demonstrate awareness of laws surrounding duty to report consanguinity and incest, and allow respondents to share their personal experiences with results suggesting a parental relationship. A 35 question survey was administered to 240 genetic counselors and geneticists who had ordered or counseled for SNP microarray. The results are presented using descriptive statistics. There was variation in both pre- and post-test counseling practices of genetics professionals. Twenty-five percent of respondents reported pre-test counseling that ROH can indicate parental relatedness. The most commonly reported ethical concern was disclosure of findings suggesting parental relatedness to parents of the patient; only 48.4% reported disclosing parental relatedness when indicated. Fifty-seven percent felt comfortable receiving results suggesting parental consanguinity while 17% felt comfortable receiving results suggesting parental incest. Twenty percent of respondents were extremely/moderately familiar with the laws about duty to report incest. Personal experiences in post-test counseling included both parental acknowledgement and denial of relatedness. This study highlights the differences in genetics professionals' pre- and post-test counseling practices, comfort, and experiences surrounding parental relatedness suggested by SNP microarray results. It identifies a need for professional organizations to offer guidance to genetics professionals about how to respond to and counsel for molecular results suggesting parental consanguinity or incest.

摘要

单核苷酸多态性微阵列能够检测纯合性区域(ROH),这可能提示父母的血缘关系。本研究旨在描述遗传学专业人员在检测前后就ROH进行咨询的做法,探讨在后续跟进此类结果时所感知到的舒适度和伦理问题,表明对围绕报告近亲关系和乱伦义务的法律的认识,并让受访者分享他们在面对提示父母关系的结果时的个人经历。对240名订购过或咨询过单核苷酸多态性微阵列的遗传咨询师和遗传学家进行了一项包含35个问题的调查。结果采用描述性统计呈现。遗传学专业人员在检测前后的咨询做法存在差异。25%的受访者报告在检测前咨询时提到ROH可表明父母的血缘关系。最常报告的伦理问题是向患者父母披露提示父母血缘关系的结果;只有48.4%的人报告在有指征时披露父母的血缘关系。57%的人对收到提示父母近亲关系的结果感到安心,而17%的人对收到提示父母乱伦的结果感到安心。20%的受访者对关于报告乱伦义务的法律极为/中度熟悉。检测后咨询中的个人经历包括父母承认和否认血缘关系。本研究突出了遗传学专业人员在检测前后的咨询做法、舒适度以及围绕单核苷酸多态性微阵列结果提示的父母血缘关系的经历方面的差异。它指出专业组织需要为遗传学专业人员提供指导,说明如何应对和就提示父母近亲关系或乱伦的分子结果进行咨询。

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