Interpreting noninvasive prenatal paternity tests
Interpreting noninvasive prenatal paternity tests
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DOI：
10.1038/gim.2014.100
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发表时间：
2014-10
影响因子：
8.8
通讯作者：
J. Drábek;G. Cereda
中科院分区：
文献类型：
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作者：
J. Drábek;G. Cereda
致编辑：我们饶有兴趣地阅读了 Ryan 等人的简短报告。 1 使用 Human-CytoSNP-12 阵列进行无创产前亲子鉴定。虽然该报告通过 300,739 个单核苷酸多态性的庞大数量带来了最先进的技术创新，从而将可用信息量增加了几个数量级，但我们认为作者对该测试的解释是非常规的。亲子鉴定用于为各种情况提供信息，包括赡养费、继承、移民、强奸和乱伦案件。在所有此类情况下，正确的解释至关重要。因此，法医遗传学家付出了很大的努力来寻找一种全面的、合乎逻辑的方法，可以用作 ISO17025 认证实验室的生物统计标准。该标准已发布2，任何提供亲子鉴定的实验室都可以轻松采用。该建议的核心是，应使用似然比（亲子关系指数）术语从贝叶斯角度对遗传结果进行解释。这种解释旨在揭示事实错误并避免逻辑错误，即使是由遗传外行人（即在法庭上）应用。根据这一建议，亲子鉴定包括三个重要步骤。首先，描述计算的基本假设、经验假设和具体假设以及要进行比较的假设。其次，证据的权重以似然比（亲子关系指数）的形式计算，其中分子是假设被指控的男子是父亲时基因检测结果的概率，分母是假设备择假设（即一个未知的、无关的男子是孩子的父亲）时基因检测结果的概率。第三，如果亲子关系的先验概率被陈述并得到辩护，则可以通过结合先验概率和似然比来计算亲子关系的后验概率。
To the Editor: We read with great interest the brief report by Ryan et al. 1 on noninvasive prenatal paternity testing using the Human-CytoSNP-12 array. While the report brings state-of-the-art technological innovation through the sheer volume of 300,739 single-nucleotide polymorphisms and thus increases the amount of available information by several orders of magnitude, we feel that the authors’ interpretation of the test is unconventional.Paternity testing is used to inform a variety of settings, including alimony, inheritance, immigration, rape, and incest cases. In all such cases, correct interpretation is paramount. Therefore, forensic geneticists have expended much effort to find a comprehensive, logical approach that can be used as a biostatistical standard for ISO17025-accredited laboratories. Such a standard has been published 2 and can be easily adopted by any laboratory that offers paternity testing. The core of the recommendation is that interpretation of the genetic results should be performed from a Bayesian perspective, using likelihood ratio (paternity index) terms. Such interpretation is designed to reveal factual errors and to avoid logical errors, even if applied by genetic laymen (ie, in a court of law). According to this recommendation, paternity investigation consists of three important steps. First, fundamental, empirical, and specific assumptions of the calculation and hypotheses to be compared are delineated. Second, the weight of the evidence is calculated in the form of a likelihood ratio (paternity index), where the numerator is the probability of the genetic test results given the alleged man is the father and the denominator is the probability of the genetic test results given the alternative hypothesis (ie, an unknown, unrelated man is the father of the child). Third, if prior probability of paternity is stated and defended, posterior probability of paternity can be calculated by combining prior probability and the likelihood ratio.