Human genetics has uncovered a vast trove of medically relevant changes in our genomes—variants and mutations that are both far more common and difficult to interpret than experts anticipated. What will this mean as we move into an era of genomic or “precision” medicine? For over a century the overriding goal of human genetics was to explain the inheritance of traits and conditions that hailed from disciplines like medicine, psychology, and criminology. Yet today, genomics research is calling prevailing categories of human illness and difference into question. Genetic mutations are increasingly used to reclassify disease, disability, and developmental difference—a process I call genomic designation. In recent decades, this has led to the formation of support groups, foundations, specialist clinics, and dedicated literatures for genomically designated conditions like the XXX, NGLY1, Fragile X, and 1p36 Deletion Syndromes. Drawing heavily on the case of 22q11.2 Deletion Syndrome, this paper explains how a genetic test result can radically alter the way a patient is understood and treated. Finding a 22q11.2 microdeletion can lead patients, parents, and caregivers to recast other diagnoses as mere symptoms of an underlying genetic disorder. A 22q11.2DS diagnosis can also redirect medical judgment and practice towards evaluations and even interventions that were not clinically indicated. Finally, a genomically designated diagnosis like 22q11.2DS can realign the very boundary between the normal and the pathological, leading experts and caregivers to reframe clinically nonsignificant findings like an IQ of eighty-seven as the symptom of a genetic disorder. In this way, the growing avalanche of positive genetic test results is disrupting classification and practice in a wide range of disciplines, bringing new populations under the gaze of medical genetics in the process. I conclude by discussing a few salient implications for bioethics and the social studies of science and medicine.

中文翻译：

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“基因没有得到备忘录”：在基因组医学中重新调整学科和重塑疾病

人类遗传学已经在我们的基因组中发现了大量与医学相关的变化——变异和突变比专家预期的更常见且难以解释。当我们进入基因组或“精准”医学时代时，这意味着什么？一个多世纪以来，人类遗传学的首要目标是解释来自医学、心理学和犯罪学等学科的特征和条件的遗传。然而今天，基因组学研究正在对流行的人类疾病和差异类别提出质疑。基因突变越来越多地用于对疾病、残疾和发育差异进行重新分类——我称之为基因组命名的过程。近几十年来，这导致支持团体、基金会、专科诊所、以及针对基因组指定条件（如 XXX、NGLY1、脆性 X 和 1p36 缺失综合征）的专门文献。本文大量借鉴 22q11.2 缺失综合征的案例，解释了基因检测结果如何从根本上改变对患者的理解和治疗方式。发现 22q11.2 微缺失可能会导致患者、父母和护理人员将其他诊断重新定义为潜在遗传疾病的单纯症状。22q11.2DS 诊断还可以将医学判断和实践重定向到评估甚至没有临床指征的干预措施。最后，像 22q11.2DS 这样的基因组指定诊断可以重新调整正常和病理之间的界限，领先的专家和护理人员将临床上无意义的发现（如智商为 87）重新定义为遗传疾病的症状。通过这种方式，越来越多的阳性基因检测结果正在破坏广泛学科的分类和实践，在此过程中将新人群置于医学遗传学的关注之下。最后，我将讨论对生物伦理​​学以及科学和医学的社会研究的一些显着影响。