Prioritising the application of genomic medicine
Prioritising the application of genomic medicine
复制标题
DOI：
10.1038/s41525-017-0037-0
复制
发表时间：
2017-11-21
影响因子：
5.3
通讯作者：
Mattick, John S.
中科院分区：
文献类型：
--
作者：
Doble, Brett;Schofield, Deborah J.;Mattick, John S.
基因组测序的临床转化受到了有限信息的阻碍，这些信息无法指导基因组学能够很好地改善健康和经济成果的领域的投资。迄今为止，基因组医学通过应用于具有高基因型-表型相关性和高外显率的疾病而取得了最大的成功，几乎可以肯定，个体在存在基因型的情况下会患上这种疾病。人们预计，基因组学将通过针对高危个体并减少高度流行、昂贵的复杂疾病的发病率，在促进人口健康方面发挥重要作用，并在筛查、预防和治疗决策方面具有潜在的应用。然而，在一级或二级预防需要行为改变的情况下，目前几乎没有证据支持降低疾病发病率。在临床实践中对健康个体的复杂疾病风险进行有效的基因组风险识别和管理之前，有必要更好地了解基因组变异与复杂疾病之间的关系。我们建议的方法是，基因组检测应优先关注基因型-表型相关性强、外显率高或一定、疾病影响严重且近期、有预防和/或治疗潜力、所产生的净成本对于所取得的健康收益来说是可以接受的疾病。
The clinical translation of genomic sequencing is hampered by the limited information available to guide investment into those areas where genomics is well placed to deliver improved health and economic outcomes. To date, genomic medicine has achieved its greatest successes through applications to diseases that have a high genotype-phenotype correlation and high penetrance, with a near certainty that the individual will develop the condition in the presence of the genotype. It has been anticipated that genomics will play an important role in promoting population health by targeting at-risk individuals and reducing the incidence of highly prevalent, costly, complex diseases, with potential applications across screening, prevention, and treatment decisions. However, where primary or secondary prevention requires behavioural changes, there is currently very little evidence to support reduction in disease incidence. A better understanding of the relationship between genomic variation and complex diseases will be necessary before effective genomic risk identification and management of the risk of complex diseases in healthy individuals can be carried out in clinical practice. Our recommended approach is that priority for genomic testing should focus on diseases where there is strong genotype-phenotype correlation, high or certain penetrance, the effects of the disease are serious and near-term, there is the potential for prevention and/or treatment, and the net costs incurred are acceptable for the health gains achieved.