Parents' Decisions to Screen Newborns for FMR1 Gene Expansions in a Pilot Research Project

Overview

Journal Pediatrics

Specialty Pediatrics

Date 2011 Jun 1

PMID 21624881

Citations 25

Authors

Debra Skinner

Summer Choudhury

John Sideris

Sonia Guarda

Allen Buansi

Myra Roche

Cynthia Powell

Donald B Bailey Jr

Affiliations

Soon will be listed here.

Abstract

Objective: The goal of this study was to document rates of parental consent in a pilot study of newborn screening for FMR1 gene expansions, examine demographic characteristics of mothers who consented or declined, describe the reasons for their decision, and discuss ethical and social aspects of the consent process.

Methods: A brief survey was used to record basic demographic data from mothers and an open-ended question was used to elicit parents' reasons for accepting or declining screening. A descriptive analysis was conducted on the number of mothers who consented to or declined screening, and a logistic regression model predicted mothers' likelihood to agree to screening based on demographic characteristics. Reasons for decisions were analyzed using content analysis. The study was conducted at University of North Carolina Hospitals. A total of 2137 mothers were approached.

Results: The uptake rate for couples was 63%. Acceptance rates varied by race/ethnicity, with black respondents being less likely to accept screening. Primary reasons for accepting were "to know," "belief in research," and "the test was minimal/no risk." Reasons for declining included not wanting to know or worry, not being a good time, and issues with testing children or with genetic tests.

Conclusions: Findings demonstrate that a majority of parents accepted newborn screening for FMR1 gene expansions, but decision rates and reasons for accepting or declining varied in part as a function of race/ethnicity and in part as a function of what parents most valued or feared in their assessment of risks and benefits.

Citing Articles

Parental Views of Facilitators and Barriers to Research Participation: Systematic Review.

Nathe J, Oskoui T, Weiss E Pediatrics. 2022; 151(1).

PMID: 36477217 PMC: 9808610. DOI: 10.1542/peds.2022-058067.

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.

Tluczek A, Ersig A, Lee S Int J Neonatal Screen. 2022; 8(4).

PMID: 36278623 PMC: 9589938. DOI: 10.3390/ijns8040053.

Acceptability of childhood screening: a systematic narrative review.

Carlton J, Griffiths H, Horwood A, Mazzone P, Walker R, Simonsz H Public Health. 2021; 193:126-138.

PMID: 33831694 PMC: 8128098. DOI: 10.1016/j.puhe.2021.02.005.

Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.

Boardman F J Genet Couns. 2020; 30(1):85-97.

PMID: 33184995 PMC: 7894324. DOI: 10.1002/jgc4.1355.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

Blom M, Bredius R, Jansen M, Weijman G, Kemper E, Vermont C J Clin Immunol. 2020; 41(1):99-108.

PMID: 33070266 PMC: 7846522. DOI: 10.1007/s10875-020-00886-4.

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