Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input

Abstract

Our objective was to develop and test a new approach to obtaining parental policy guidance about disclosure of incidental findings of newborn screening for cystic fibrosis (CF), including heterozygote carrier status and the conditions known as CFTR-related metabolic syndrome (CRMS) and/or cystic fibrosis screen positive inconclusive diagnosis, CFSPID. The participants were parents of infants up to 6 months old recruited from maternity hospitals/clinics, parent education classes and stores selling baby products. Data were collected using an anonymous, one-time Internet-based survey. The survey introduced two scenarios using novel, animated videos. Parents were asked to rank three potential disclosure policies—Fully Informed, Parents Decide, and Withholding Information. Regarding disclosure of information about Mild X (analogous to CRMS/CFSPID), 57% of respondents ranked Parents Decide as their top choice, while another 41% ranked the Fully Informed policy first. Similarly, when considering disclosure of information about Disease X (CF) carrier status, 50% and 43% gave top rankings to the Fully Informed and Parents Decide policies, respectively. Less than 8% ranked the Withholding Information policy first in either scenario. Data from value comparisons suggested that parents believed knowing everything was very important even if they became distressed. Likewise, parents preferred autonomy even if they became distressed. However, when there might not be enough time to learn everything, parents showed a slight preference for deferring decision-making. Because most parents strongly preferred the policies of full disclosure or making the decision, rather than the withholding option for NBS results, these results can inform disclosure policies in NBS programs, especially as next-generation sequencing increases incidental findings.

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor

“…CFTR variant analysis should be informed by the parents’ known CFTR variants and race and ethnicity [ 24 ]. Performing CFTR variant analysis for all ETI-exposed infants would allow parents to be informed of NBS results that are not diagnostic for CF, which is the option parents prefer [ 25 ]. In order for CFTR variant analysis to be performed for all ETI-exposed infants, close communication between the Adult CF Care Center, the state NBS laboratory, and the Pediatric CF Care Center is necessary to allow for timely analysis of CFTR variants from the already-collected dried bloodspot.…”

Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate

“…It is difficult to consider some of the early reports of profoundly disturbed bonding and its sequelae as being as salient today given many of the efforts, albeit not enough, that are currently made (i.e., Baby's First Steps, March of Dimes, piloted initiatives) [37][38][39][40] to better educate the public and health professionals as to newborn screening practices. Since falsepositive results are an expectable necessary risk to avoid overlooking truly affected infants, as conditions expand so too will the reporting of false positives, with an increased need for communicating and counseling some families.…”