How do parents decide on genetic testing in pediatrics? A systematic review

IF 6.6 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2025-02-19 DOI:10.1016/j.gim.2025.101390

Elena Sophia Doll , Seraina Petra Lerch , Katja Maria Schmalenberger , Karla Alex , Stefan Kölker , Heiko Brennenstuhl , Stacey Pereira , Hadley Smith , Eva Caroline Winkler , Julia Mahal , Beate Ditzen

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引用次数: 0

Abstract

Purpose

This systematic review aims to identify the factors that influence parents’ decisions regarding pediatric diagnostic genetic testing (DT) and predictive genetic testing (PT). These factors are integrated into a conceptual decision-making model. Implications for genetic counseling, research, and ethics were derived.

Methods

PubMed, PsychInfo, WebofScience, and related references were searched for original publications between 2000 and 2023. The extracted factors were categorized using existing models.

Results

Of the 5843 publications, 56 met the inclusion criteria. The included studies differentiated between DT, traditional PT, and expanded PT and described factors affecting parental decisions to have the child genetically tested and to be informed about additional findings. Factors included (1) benefits/hopes, (2) worries/concerns, (3) values and beliefs, (4) individual circumstances, and (5) emotional states.

Conclusion

Our work extends the existing empirical decision model of family decisions about genome sequencing to genetic testing in pediatrics in general, adding the categories of individual circumstances and emotional states. These factors can be further integrated into the Health Belief Model; the importance of emotional states is reflected in dual-process theories, such as the Fuzzy Trace Theory. Research is required on emotional states, differences between DT and PT, parents’ decisions regarding result disclosure, and dyadic variables as decision-making predictors.

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.