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A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
Julie A Cakici1, David P Dimmock2, Sara A Caylor2
1Department of Family Medicine and Public Health, University of California San Diego, San Diego, CA 92093, USA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA 92123, USA; San Diego State University, School of Public Health, San Diego, CA 92182, USA.
Insights
Parents found rapid genomic sequencing useful for infants in intensive care units (ICUs), with most feeling informed and experiencing no regret or harm. This diagnostic tool offers significant benefits for critically ill newborns.
Area of Science:
- Genomics
- Pediatrics
- Medical Ethics
Background:
- Rapid diagnostic genomic sequencing is now feasible for infants in intensive care units (ICUs).
- Limited research exists on parental perceptions of utility, consent adequacy, and potential harms/benefits of this technology.
- The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study addresses this knowledge gap.
Purpose of the Study:
- To evaluate parental perceptions of utility, consent, and harms/benefits of rapid diagnostic genomic sequencing in infants within ICUs.
- To assess parental understanding of results and decisional regret following genomic testing.
- To compare parental and clinician perceptions of utility and harm.
Main Methods:
- A randomized, controlled trial (NSIGHT2 study) involving infants in regional ICUs.
- Parental surveys were administered to assess perceptions of informed consent, utility, regret, and harm.
- Genomic sequencing was performed, and results were analyzed for diagnostic yield and impact.
Main Results:
- Over 90% of parents felt adequately informed to consent to genomic sequencing.
- Despite a low diagnostic yield (23%), 97% of parents found the testing useful, and 50.3% reported no decisional regret.
- Only 4.3% of families reported harm, with minimal confirmed harm to child or parent; most parents denied regret or harm.
Conclusions:
- Rapid, first-tier diagnostic genomic sequencing is perceived as beneficial by the majority of parents for infants lacking diagnoses in ICUs.
- Most parents felt adequately informed, understood results, and experienced no regret or harm, indicating successful implementation.
- Genomic results, particularly positive diagnoses, were more frequently perceived as useful and beneficial by parents.
Abstract:
Rapid diagnostic genomic sequencing recently became feasible for infants in intensive care units (ICUs). However, research regarding parents' perceived utility, adequacy of consent, and potential harms and benefits is lacking. Herein we report results of parental surveys of these domains from the second Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2) study, a randomized, controlled trial of rapid diagnostic genomic sequencing of infants in regional ICUs. More than 90% of parents reported feeling adequately informed to consent to diagnostic genomic sequencing. Despite only 23% (27) of 117 infants receiving genomic diagnoses, 97% (156) of 161 parents reported that testing was at least somewhat useful and 50.3% (88/161) reported no decisional regret (median 0, mean 10, range 0-100). Five of 117 families (4.3%) reported harm. Upon follow-up, one (1%) confirmed harm to child and parent related to negative results/no diagnosis, two (2%) reported stress or confusion, and two (2%) denied harm. In 81% (89) of 111 infants, families and clinicians agreed that genomic results were useful. Of the families for whom clinicians perceived harm from genomic testing, no parents reported harm. Positive tests/genomic diagnosis were more frequently perceived to be useful by parents, to benefit their infant, and to help manage potential symptoms (p < .05). In summary, the large majority of parents felt that first-tier, rapid, diagnostic genomic sequencing was beneficial for infants lacking etiologic diagnoses in ICUs. Most parents in this study perceived being adequately informed to consent, understood their child's results, and denied regret or harm from undergoing sequencing.
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