Division of Newborn Medicine, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
Division of Genetics and Genomics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
Pediatr Res. 2021 Jan;89(2):295-300. doi: 10.1038/s41390-020-01151-5. Epub 2020 Sep 15.
Although Mendelian genetic disorders are individually rare, they are collectively more common and contribute disproportionately to pediatric morbidity and mortality. Remarkable advances in the past 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 may also 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 that 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. IMPACT: Social determinants of health are known to contribute to inequality in outcomes, though the impact on pediatric rare disease patients is not fully understood. Diagnostic genetic testing is a powerful tool, though it may not be available to all in need. This article represents the first effort, to our knowledge, to evaluate the existing literature regarding disparities in genetic testing for pediatric rare disease diagnosis and identify gaps in care.
虽然孟德尔遗传疾病在个体中较为罕见，但它们在总体上更为常见，并对儿科发病率和死亡率的影响不成比例。在过去十年中取得了显著进展，导致确定了许多此类疾病的确切遗传变异。通过基因检测确认分子诊断不仅可以制定个性化的治疗计划，还可以结束诊断的探索之旅，不仅停止了进一步不必要的测试，而且可能还会带来巨大的心理益处，从而提高生活质量。然而，确保公平应用这些基因组技术方面的进展具有挑战性。尽管先前的研究揭示了成年人中遗传易感性癌症检测方面的差异，但对于儿科罕见病患者诊断检测中的差异的普遍性和性质知之甚少。虽然似乎可以理解的是，那些获得医疗保健机会有限的人不太可能接受结束其探索之旅所需的基因检测，但很少有研究直接解决这个问题，也很少有研究探讨其对健康结果的潜在影响。本综述综合了有关儿科遗传诊断差异的现有证据，明确了需要进一步进行前瞻性研究，最终目标是为所有受益的人提供精准医学。影响：健康的社会决定因素已知会导致结果不平等，尽管对儿科罕见病患者的影响尚未完全了解。诊断性基因检测是一种强大的工具，但并非所有有需要的人都能获得。就我们所知，本文是第一篇评估关于儿科罕见病诊断基因检测差异的现有文献并确定护理差距的文章。
