The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
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DOI：
10.1038/s41390-020-01151-5
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发表时间：
2021-01
影响因子：
3.6
通讯作者：
Wojcik MH
中科院分区：
文献类型：
--
作者：
Fraiman YS;Wojcik MH
虽然孟德尔遗传疾病是个别罕见的，他们集体更常见，并贡献不成比例的儿童发病率和死亡率。在过去的十年里，取得了显著的进展，已经确定了导致许多这些疾病的精确遗传变异。通过基因检测确认分子诊断，除了可以结束漫长的诊断过程外，还可以制定个性化的治疗计划，这不仅可以停止进一步的不必要的检测，还可以带来巨大的心理效益，从而提高生活质量。然而，确保这些基因组技术进步的公平应用一直具有挑战性。虽然先前的研究揭示了成人癌症遗传易感性检测的差异，但对儿科罕见病人群诊断检测的患病率和差异的性质知之甚少。虽然似乎合乎逻辑的是，那些无法获得医疗保健的人不太可能接受结束他们的奥德赛所需的基因检测，但很少有研究直接解决这个问题以及对健康结果的潜在影响。本综述综合了关于儿童遗传诊断差异的现有证据，确定了进一步前瞻性研究的必要性，最终目标是为所有受益的人提供精准医疗。
Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the last decade have led to identification of the precise genetic variants responsible for many of these conditions. Confirming the molecular diagnosis through genetic testing allows for individualized treatment plans in addition to ending the diagnostic odyssey, which not only halts further unnecessary testing but also may result in immense psychological benefit, leading to improved quality of life. However, ensuring equitable application of these advances in genomic technology has been challenging. Though prior studies have revealed disparities in testing for genetic predisposition to cancer in adults, little is known about the prevalence and nature of disparities in diagnostic testing in the pediatric rare disease population. While it seems logical those with impaired access to healthcare would be less likely to receive the genetic testing needed to end their odyssey, few studies have addressed this question directly and the potential impact on health outcomes. This review synthesizes the available evidence regarding disparities in pediatric genetic diagnosis, defining the need for further, prospective studies with the ultimate goal of delivering precision medicine to all who stand to benefit.
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