Evidence map›Paper›PMID 42447152›Full record

ArticlePublic health genomics2026

What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.

Sylvia Martin, Åsa Grauman, Joshua Coulter, Mats Hansson, Alessandra Ferlini, Fernanda Fortunato, Silvia Ottombrino, Roman Raming, Ferdinand Knieling, Felix Wachter and 3 more

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In one paragraph

Article in Public health genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Sylvia MartinCenter for Research and Bioethics (CRB), Uppsala University, Uppsala, Sweden.
Åsa GraumanCenter for Research and Bioethics (CRB), Uppsala University, Uppsala, Sweden.
Joshua CoulterPfizer, New York, New York, USA.
Mats HanssonCenter for Research and Bioethics (CRB), Uppsala University, Uppsala, Sweden.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Fernanda FortunatoUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Silvia OttombrinoTranslational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Roman RamingDepartment of Pediatrics and Adolescent Medicine, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Ferdinand KnielingDepartment of Pediatrics and Adolescent Medicine, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Felix WachterDepartment of Pediatrics and Adolescent Medicine, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany.
Christina SaierDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Kathrin FreylerDepartment of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Jorien VeldwijkCenter for Research and Bioethics (CRB), Uppsala University, Uppsala, Sweden, veldwijk@eshpm.eur.nl.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe diagnostic journey for rare diseases (RDs) often involves lengthy delays and significant burdens on patients and their families. Genetic newborn screening (NBS) for RDs offers a potential opportunity for early diagnosis and treatment. This study explores factors influencing parental decisions regarding participation in genetic NBS for RDs in two European countries (Italy and Germany).

methodsThis mixed-methods qualitative study is composed of focus group discussions and ranking exercises. It was conducted with parents seeking genetic testing (n = 5) and expectant parents from the general population (n = 11). All participants were recruited in spring 2024 in Germany and winter 2024 in Italy via contacts from genetic centres and obstetric services. Thematic analysis was performed by two independent coders to identify main themes and subthemes.

resultsThree key themes were identified: (1) the complexity of the decision-making process, (2) the importance of certainty and disease characteristics, and (3) the anticipation of negative consequences. Participants trusted healthcare professionals to guide their decisions, also emphasizing the need for extensive education and comprehensive support systems. Concerns about test accuracy, potential psychological impact of uncertain or positive results, and anticipated social implications were also reported.

conclusionThese findings highlight the nuanced considerations surrounding the implementation of genetic NBS for RDs and the necessity of addressing parental experiences in clinical practice and policy development. Participants emphasized the importance of accessible education and clear communication, the support of trusted healthcare professionals and that ethical reflection is essential for the equitable integration of genetic NBS into newborn care.

Indexed as

Genetic TestingNeonatal ScreeningParentsRare DiseasesAdultDecision MakingFemaleFocus GroupsGermanyHumansInfant, NewbornItalyMaleQualitative ResearchDecision-makingGenetic newborn screeningParental preferencesQualitative researchRare diseases

Identifiers

PMID42447152
PMCPMC13485283

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.