Orphanet Journal of Rare Diseases | Preferences and Attitudes toward Genetic Newborn Screening: A Systematic Literature Review

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This study systematically summarizes the acceptance, barriers, and opportunities of genetic newborn screening for rare diseases between 2009 and 2022, revealing the balance between the potential of early intervention and psychosocial challenges, providing empirical support for policy development.

 

Literature Overview

The article titled 'Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022,' published in the Orphanet Journal of Rare Diseases, reviews and summarizes preferences, attitudes, and views regarding the application of genetic newborn screening (gNBS) for rare diseases from 2009 to 2022. Based on the PRISMA guidelines, the study included 112 high-quality publications, systematically analyzing the acceptance of gNBS among different stakeholders, identifying key opportunities, barriers, and overall attitudes, and further distilling five meta-themes covering psychological impacts, educational needs, clinical actionability, ethical issues, and disease-specific impacts. The article highlights the potential of gNBS in shortening diagnostic odysseys and improving outcomes, while also pointing out critical challenges such as false positives, information misinterpretation, and psychological burden. The findings provide valuable reference for advancing gNBS policy-making, optimizing communication strategies, and enhancing public awareness.

Background Knowledge

Genetic newborn screening (gNBS) extends traditional newborn screening (NBS) by utilizing genomic technologies (e.g., next-generation sequencing, whole-genome sequencing) to identify multiple genetic rare diseases early after birth. Approximately 80% of rare diseases have a genetic basis, and early diagnosis can significantly reduce infant mortality and long-term complications. gNBS not only facilitates timely intervention for treatable conditions but also provides families with reproductive planning information. However, its implementation faces multiple challenges: debates over the screening value for diseases without effective treatments, disagreements on the definition of 'actionability,' family anxiety caused by false positives, poor communication of information, psychosocial impacts, privacy and discrimination risks, among others. Additionally, significant differences exist across countries in the scope of gNBS implementation, policy support, and technical capabilities, particularly in low- and middle-income countries. Ethically, tensions between children's 'right not to know' and parental decision-making rights, long-term management of genetic data, and handling of incidental findings remain unresolved. By systematically integrating global evidence, this study offers a comprehensive perspective on the social acceptance and implementation barriers of gNBS, filling an evidentiary gap between policy and practice.

 

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Research Methods and Experiments

This study followed the PRISMA guidelines and was registered in PROSPERO (CRD42022297678). It systematically searched databases including PsycInfo, PubMed, Scopus, and Web of Science for relevant literature from 2009 to 2022. The initial search yielded 4,519 records, which, after double-blind screening and quality assessment (using the JBI tool), resulted in 112 high-quality studies, including quantitative, qualitative, and ethical analyses. The literature was categorized into three types for in-depth analysis: quantitative studies (n=39), qualitative studies (n=54), and ethical studies (n=19). Thematic analysis was employed, combining inductive and deductive approaches to identify three main themes—barriers, opportunities, and attitudes—and further distilled into multiple sub-themes and five meta-themes. Two independent reviewers coded each article, reaching consensus on final classifications to ensure reliability and validity of the analysis.

Key Conclusions and Findings

• Early intervention is the most recognized opportunity of gNBS, significantly shortening the diagnostic journey for rare diseases, reducing family psychological burden, and securing critical treatment windows for treatable conditions
• Major barriers include psychological stress caused by false positives (n=25), psychosocial impacts (n=26), and misunderstandings due to insufficient education or communication (n=25), all of which significantly affect parental acceptance
• 'Actionability' is the core factor determining gNBS acceptance; parents are more supportive of screening for diseases that are treatable or whose prognosis can be improved through early intervention
• Healthcare professionals generally support gNBS, but many report insufficient knowledge and training to effectively communicate results, especially when facing complex or uncertain findings
• While whole-genome sequencing (WGS) enhances detection scope, it introduces new challenges such as privacy, data management, and handling of incidental findings; parental willingness toward such expanded screening is lower than for traditional gNBS
• Ethical debates center on children's 'right not to know,' parental decision-making authority, result disclosure strategies, and the appropriateness of predicting late-onset diseases in asymptomatic children
• Acceptance of screening varies across different rare diseases; for example, conditions like spinal muscular atrophy (SMA) and cystic fibrosis (CF) receive higher support, whereas attitudes are more cautious for diseases without available treatments

Research Implications and Outlook

This study provides a solid evidence base for gNBS policy development and clinical implementation. It emphasizes the need to strengthen genetics training and communication skills among healthcare professionals to ensure parents make informed decisions. Future gNBS programs should establish standardized genetic counseling and psychological support systems, especially for families receiving false-positive or uncertain results.

In addition, a unified definition of 'actionability' should be promoted, and tiered screening strategies developed based on disease characteristics. With the increasing prevalence of genomic technologies, international collaborative frameworks are needed to address global challenges such as data sharing, privacy protection, and ethical regulation. The study also calls for strengthening gNBS infrastructure in low-income countries to reduce health inequities. Ultimately, the success of gNBS depends not only on technological advancement but also on social trust, ethical consensus, and systematic support.

 

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Conclusion

This systematic review comprehensively reveals the acceptance, barriers, and opportunities of genetic newborn screening (gNBS) in the field of rare diseases. The study finds that although gNBS has significant potential in early diagnosis and intervention, its implementation is constrained by psychosocial stress, information misinterpretation, and ethical controversies. Parents and healthcare professionals generally support gNBS, provided results are clinically actionable and accompanied by adequate genetic counseling and psychological support. False positives and predictions of late-onset diseases particularly provoke anxiety and ethical dilemmas. Education plays a key role in enhancing gNBS acceptance—not only for the public but also through continuous training for healthcare providers. The study emphasizes that future gNBS policies should be patient-centered, balancing technological capabilities with ethical responsibilities, and establishing transparent, fair, and sustainable screening systems. By integrating multidimensional evidence, this research provides important reference for optimizing gNBS practices, improving family well-being, and advancing public health policies for rare diseases.

 

Sylvia Martin, Gergana Kyosovska-Peshtenska, Jennifer Audi, Vera Frankova, and Mats Hansson. Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022. Orphanet Journal of Rare Diseases.