Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Camille M Schubert, Matilda R Jackson, Christopher P Barnett, Hamish S Scott, Thomas Sullivan, Stephen Goodall, Tracy Merlin
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引用次数: 0

Abstract

Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and likelihood of recurrence, often with limited use of molecular analysis. In the Australian Genomic Autopsy Study (GAS) cases that were unresolved following standard-of-care investigations underwent exome and/or genome sequencing (ES/GS). This diagnostic before-and-after study measured the changes in clinical management, in terms of the effect on clinical counselling that was provided to parents following ES/GS. Clinicians were surveyed before and after receiving sequencing results about the likelihood of recurrence and the reproductive planning advice they would provide to families. 161 pairs of before-and-after surveys were completed. Clinician estimates regarding PND recurrence changed for 45% (73/161) of families after receiving test results, despite a genetic diagnosis being found in only 19%. Families with an 'unknown likelihood' of recurrence reduced from 26% to 15% (p = 0.01). The information provided to parents about recurrence and reproductive planning increased significantly, both with and without a diagnosis, and clinicians reported that most parents expressed value was obtained from the investigation. The utility of genomic autopsy for clinical management is not restricted to families with a genetic finding.

围产儿死亡后基因组测序的临床应用评估。
在胎儿异常或不明原因的围产期死亡(PND)终止妊娠后,临床遗传学家建议可能的遗传原因和复发的可能性,通常使用有限的分子分析。在澳大利亚基因组尸检研究(GAS)中,在标准护理调查后未解决的病例进行了外显子组和/或基因组测序(ES/GS)。这项诊断前后的研究测量了临床管理的变化,即在ES/GS之后向父母提供的临床咨询的影响。在收到测序结果之前和之后,对临床医生进行了调查,了解复发的可能性以及他们将向家庭提供的生育计划建议。共完成了161对前后调查。临床医生估计,45%(73/161)的家庭在收到检测结果后,PND的复发率发生了变化,尽管只有19%的家庭发现了基因诊断。复发“未知可能性”的家庭从26%减少到15% (p = 0.01)。无论是否诊断,提供给家长的关于复发和生育计划的信息都显著增加,临床医生报告说,大多数家长表示从调查中获得了价值。基因组解剖对临床管理的效用并不局限于有遗传发现的家庭。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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