University of California, Los Angeles, Los Angeles, CA, USA.
ARUP Laboratories, University of Utah, Salt Lake City, UT, USA.
Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14.
Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of Medical Genetics and Genomics (ACMG). Misattributed parentage is another type of unanticipated finding a laboratory may encounter during family-based ES/GS; however, there are currently no professional recommendations related to the proper consenting for and reporting of misattributed parentage encountered during ES/GS.
We surveyed 10 clinical laboratories offering family-based ES/GS regarding their consent language, discovery, and reporting of misattributed parentage.
Many laboratories have already developed their own practices/policies for these issues, which do not necessarily agree with those from other labs.
There are several other possibilities besides true misattributed parentage that could result in similar laboratory findings, and laboratories often feel they lack sufficient information to make formal conclusions on a report regarding the true genetic relatedness of the submitted samples. However, understanding the genetic relatedness (or lack thereof) of the samples submitted for family-based ES/GS has medical relevance. Therefore, professional recommendations for the appropriate handling of suspected misattributed parentage encountered during ES/GS are needed to help standardize current clinical laboratory practices.
进行外显子组或基因组测序（ES/GS）的临床实验室熟悉基于美国医学遗传学与基因组学学会（ACMG）建议，对有医学意义的次要发现进行适当知情同意和报告所面临的挑战。亲子关系错误是实验室在进行基于家族的 ES/GS 时可能遇到的另一种意外发现类型；然而，目前尚无关于在 ES/GS 过程中遇到的亲子关系错误的适当知情同意和报告的专业建议。
我们调查了 10 家提供基于家族的 ES/GS 的临床实验室，了解他们在亲子关系错误的知情同意语言、发现和报告方面的情况。
许多实验室已经针对这些问题制定了自己的实践/政策，这些政策不一定与其他实验室的政策一致。
除了真正的亲子关系错误之外，还有其他几种可能性会导致类似的实验室发现，而且实验室通常认为他们缺乏足够的信息来对报告中提交样本的真实遗传关系做出正式结论。然而，了解提交进行基于家族的 ES/GS 的样本的遗传关系（或缺乏遗传关系）具有医学相关性。因此，需要专业建议来妥善处理 ES/GS 过程中遇到的疑似亲子关系错误，以帮助规范当前的临床实验室实践。
