Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China

Abstract

ObjectivesTo understand the knowledge, attitude, willingness, and ability of healthcare professionals working in newborn screening (NBS) centers regarding newborn genetic screening (nGS).MethodsThe questionnaire consisted of four sections with 27 questions and the data were collected by the WJX platform. All participants accessed the questionnaire by scanning a specific QR code with their mobile phones. Two researchers independently completed the summary and analysis.ResultsA total of 258 valid questionnaires were collected from 43 NBS centers in six provinces of southeast China. In total, 209 (81.01%) participants were interested in nGS, and almost all participants (97.67%) thought that nGS was necessary in China. About 89.53% of participants thought that it could be used to effectively expand the diseases that could be screened, but 72.87% also worried about the inability to provide genetic counseling. About 55.34% suggested that nGS and tandem mass spectrometry (TMS) screening could be applied in a unite screening mode. The higher the institution and personal education levels, the higher the interest healthcare professionals displayed toward nGS. However, they also showed greater concern about the inability to provide genetic counseling and ethical issues. If a center had engaged in TMS screening, its staff would have been more likely to believe that nGS had great advantages. In addition, most participants had ethical concerns, such as “the psychological burden caused by carrying information regarding adult morbidity risk.”ConclusionMost participants were interested and considered nGS necessary. The inability to provide genetic counseling may be the primary impediment to clinical practice. Three important influencing factors were level of education, institution level, and engagement in TMS screening.

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation

“…Our data support the general trend that views of the public about gNBS are less conservative than those of health professionals, who frequently report that gNBS is not currently ready for population-wide implementation [ 13 , 49 , 61 , 62 , 63 ]. Previous qualitative work also shows that while Australian healthcare professionals do not feel it is currently appropriate to incorporate genomic sequencing into NBS, they believe it will be implemented in the next decade [ 13 ].…”

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits and Preferences for Implementation

“…Our data supports the general trend that views of the public about gNBS are less conservative than those of health professionals, who frequently report that gNBS is not currently ready for population-wide implementation [14,44,[58][59][60]. Previous qualitative work also shows that while Australian healthcare professionals do not feel it is currently appropriate to incorporate genomic sequencing into NBS, they believe it will be implemented in the next decade [14].…”

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

“…Another aspect to consider is that currently, the interpretation of genetic variants is supported by the deep phenotyping of patients, which is necessary before performing the test, and through reverse phenotyping after the completion of the genomic test, which helps to evaluate the clinical significance of the variants. This essential exchange process between clinic and laboratory, along with the simultaneous analysis of parents (trio), helps to reduce the uncertainties of genomic results (class 3 variant or VUS) [49] . The lack of phenotype in asymptomatic newborns (screening context) makes this exchange process between laboratory and clinic impossible, allowing for reporting only variants with a high probability of pathogenicity (class 4 and 5), increasing the possibility of false negatives in genomic screening.…”