Young adult perspectives regarding receiving medically actionable gene testing results for newborns: A qualitative investigation

青年人对新生儿获得具有医学意义的基因检测结果的看法:一项定性研究

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Abstract

In the United States, standard newborn screening identifies medically treatable conditions in about 1 in 300 newborns. The integration of whole genome sequencing (WGS) into newborn screening programs has the potential to identify a wide variety of medically actionable conditions. Yet, some scholars caution about disclosing medically actionable genes (MAGs) of children to their parents. Given that young adults are future parents, understanding their views on receiving MAGs results for newborns is as important as they are currently poorly understood. To address this gap, we explored young adult perspectives toward receiving MAGs results from WGS for their newborns. We conducted semi-structured individual interviews with 58 young adults, which were audio-recorded, transcribed verbatim, and analyzed using an inductive content analysis approach. Most participants expressed a willingness to receive MAG results, citing prevention of future diseases and parental responsibility as key motivators. A few participants were unwilling to receiving MAGs results, primarily due to the worries that the results would overwhelm parents and cause stress and anxiety, their concerns about the young age of their newborn, and a perceived lack of necessity. The findings of this study expand the limited research in WGS and informs policy discussions surrounding the returning of MAGs results as an aspect of WGS-based newborn screening programs. Although the majority of young adults reported favorable attitudes about receiving MAGs results, some concerns raised should be considered in the development of policies for implementing WGS in newborn screening programs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12687-025-00852-w.

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