Parents are interested in newborn genomic testing during the early postpartum period

Abstract

Purpose We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional newborn screening (NBS). Methods After brief genetics orientation, parents rated their interest in receiving genomic testing for their healthy newborn on a 5-point Likert scale and answered questions about demographics and health history. We used logistic regression to explore factors associated with interest in genomic testing and tracked any subsequent rejection of NBS. Results We queried 514 parents within 48 hours after birth while still in the hospital (mean age (sd) 32.7 (6.4) years, 65.2% female, 61.2% white, 79.3% married). Parents reported being not at all (6.4%), a little (10.9%), somewhat (36.6%), very (28.0%) or extremely (18.1%) interested in genomic testing for their newborns. None refused conventional NBS. Married participants and those with health concerns about their infant were less interested in newborn genomic testing (p=0.012 and p=0.030, respectively). Mothers’ and fathers’ degree of interest was discordant (≥ 2 categories different) in 24.4% of couples. Conclusions Interest in newborn genomic testing was high among parents of healthy newborns and the majority of couples had similar levels of interest. Surveying parents about genomic sequencing did not prompt rejection of NBS.

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

“…21 concerning their children. 22,23 By contrast, parents in this study raised a host of concerns and were generally unenthusiastic about the prospect of "genomic NBS. " This difference may be related to the testing situation being "less hypothetical" for the parents described here than those in the general population.…”

Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns

“…4 Our survey of parents 3 to 28 months after birth suggests a trend in the opposite direction. Our data do not allow us to comment on the specific motivations of the parents, but screening actions are generally taken to prevent adverse health outcomes or seek reassurance.…”

“…4 These parents were originally enrolled within 48 hours of birth of a healthy newborn while at the well-baby newborn nursery at Brigham and Women's Hospital. A total of 663 of 1096 (60.5%) of these parents who enrolled in this study were surveyed 3 to 28 months after discharge from the well-baby nursery and asked on a 5-point scale if they were "not interested," "a little interested," "somewhat interested," "very interested," or "extremely interested" in GS for their infant.…”

“…3 We previously reported that when parents of newborns were presented with the hypothetical possibility of GS for their newborns immediately after birth, 82% reported being at least somewhat interested. 4 Here, we report an extension of this study in which parents of newborns were queried about their interest in GS for their infants some months after birth, and we examined the association between interest in GS and a number of demographic and psychosocial variables.…”

Genomic technologies in neonatology

“…По данным одного исследования, среди 514 роди-телей, опрошенных в течение 2 сут после рождения детей, подавляющее большинство (82,7%) сообщи-ли, что желали бы провести неонатальное геномное тестирование в той или иной степени [14]. Однако, учитывая ситуацию с рутинным неонатальным скри-нингом и очень частой неосведомленностью родите-лей о причинах и возможных результатах его прове-дения, требуется тщательное обеспечение законных представителей ребенка всей соответствующей ин-формацией о геномном тестировании.…”