P Fishler Kristen, Euteneuer Joshua C, Brunelli Luca
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE 68198, USA.
Methodist Women's Hospital, Omaha, NE 68022, USA.
Int J Neonatal Screen. 2022 Mar 21;8(1):22. doi: 10.3390/ijns8010022.
Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exemplary international public health initiative that identifies infants with rare conditions early in life to reduce morbidity and mortality. NBS theoretically promotes equity through universal access, regardless of financial ability. There is however heterogeneity in access to newborn screening and conditions that are screened throughout the world. In the United States and some other developed countries, NBS is provided to all babies, subsidized by the local or federal government. Although NBS is an equitable test, infants admitted to neonatal intensive care units (NICUs) may not receive similar benefits to healthier infants. Newborns in the NICU may receive delayed and/or multiple newborn screens due to known limitations in interpreting the results with prematurity, total parenteral nutrition, blood transfusions, infection, and life support. Thus, genomic technologies might be needed in addition to NBS for equitable care of this vulnerable population. Whole exome (WES) and genome sequencing (WGS) have been recently studied in critically ill newborns across the world and have shown promising results in shortening diagnostic odysseys and providing clinical utility. However, in certain circumstances several barriers might limit access to these tests. Here, we discuss some of the existing barriers to genomic sequencing in NICUs in the United States, explore the ethical implications related to low access, consider ways to increase access to genomic testing, and offer some suggestions for future research in these areas.
罕见病对所有社会经济、地理和种族群体均有影响，毫无差别。新生儿筛查（NBS）是一项堪称典范的国际公共卫生举措，旨在在生命早期识别患有罕见病的婴儿，以降低发病率和死亡率。从理论上讲，新生儿筛查通过普及筛查来促进公平，无论经济能力如何。然而，全球范围内新生儿筛查的可及性以及所筛查的疾病存在异质性。在美国和其他一些发达国家，新生儿筛查由地方或联邦政府补贴，面向所有婴儿提供。尽管新生儿筛查是一项公平的检测，但入住新生儿重症监护病房（NICU）的婴儿可能无法获得与健康婴儿类似的益处。由于在解读早产、全胃肠外营养、输血、感染和生命支持情况下的检测结果存在已知局限性，NICU中的新生儿可能会接受延迟和/或多次新生儿筛查。因此，除了新生儿筛查之外，可能还需要基因组技术来为这一弱势群体提供公平的医疗服务。全外显子组测序（WES）和全基因组测序（WGS）最近在全球范围内的危重新生儿中得到了研究，并在缩短诊断过程和提供临床实用性方面显示出了有前景的结果。然而，在某些情况下，一些障碍可能会限制这些检测的可及性。在此，我们讨论美国NICU中基因组测序的一些现有障碍，探讨与可及性低相关的伦理问题，考虑增加基因组检测可及性的方法，并为这些领域的未来研究提供一些建议。
