BACKGROUND: Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and genetic disorders, leading to significant reductions in infant mortality and long-term complications. Advances in genomic technologies, particularly next-generation sequencing, have enhanced the ability to detect rare diseases early, using gNBS, improving long-term outcomes. The availability and scope of gNBS vary across countries, influenced by national policies and technological advancements. This systematic literature review aims to clarify the specific barriers, opportunities, and more general attitudes that stakeholders express about gNBS for rare diseases. MAIN: We extracted articles from 2010 to 2022. We followed the PRISMA guidelines and registered the review via PROSPERO (CRD42022297678). From an initial retrieval of 4519 records, two selection rounds resulted in a final list of 112 articles, which were assessed across different categories exploring various aspects of gNBS. The most important perceived opportunities in gNBS were the benefits of early intervention to reduce the burden of the diagnostic odyssey. The main identified barriers included three key codes: the stress and risk associated with false results and dealing with uncertainty (n = 25), the psychosocial implications (n = 26), and misunderstandings due to lack of education or communication. The majority of respondents expressed positive views, particularly regarding actionability. CONCLUSION: The results indicate a generally favourable attitude toward newborn screening, with subtle variations in viewpoints. Our findings on these themes can specifically inform how final attitudes are shaped based on particular aspects. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-025-04179-0.

Bulgarian Association for Personalised Medicine 45 Bacho Kiro str Sofia 1202 Bulgaria

Center for Research and Bioethics Uppsala University Husargatan 3 BMC Entrance A11 Uppsala Sweden

Charles University 1st Faculty of Medicine Prague Czech Republic

Department of Neuropediatrics and Muscle Disorders Faculty of Medicine Medical Center University of Freiburg Freiburg Germany

Department of Pediatrics and Adolescent Medicine Universitätsklinikum Erlangen Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany

Erasmus School of Health Policy and Management Erasmus University Rotterdam P O Box 1738 Rotterdam 3000 DR The Netherlands

EURORDIS Plateforme Maladies Rares 96 rue Didot Paris 75014 France

Illumina 5200 Illumina Way San Diego USA

Laboratory of Medical Genetics Translational Cytogenomics Research Unit Bambino Gesù Children Hospital IRCCS Rome Italy

Novo Nordisk Novo Alle 1 Bagsværd 2880 Denmark

Pfizer 66 Hudson Blvd235 E 42nd St New York USA

Research Unit of Neuromuscular and Neurodegenerative Disease Ospedale Pediatrico Bambino Gesu IRCCS Roma Italy

Sanofi Diegem Barcelona Belgium

Siena University Telethon Institute of Genetics and Medicine Sienna Pozzuoli Naples 80078 Italy

Takeda Pharmaceuticals International AG Zurich Switzerland

The Comparative Health Outcomes Policy and Economics Institute University of Washington School of Pharmacy Seattle WA USA

UCB Allée de la Recherche 60 Brussels 1070 Belgium

University of Ferrara Ferrara Italy

Zobrazit více v PubMed

Guthrie R. Blood screening for phenylketonuria. Jama. 1961;178(8):863–863. DOI

Driscoll CJ, McPherson B. Newborn screening systems: the complete perspective. Plural publishing; 2010.

Fabie NAV, Pappas KB, Feldman GL. The current state of newborn screening in the United States. Pediatr Clinics. 2019;66(2):369–86. PubMed

Bessey A, et al. A cost-effectiveness analysis of newborn screening for severe combined immunodeficiency in the UK. Int J Neonatal Screening. 2019;5(3):28. PubMed DOI PMC

Kishnani PS, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161a(10):2431–43. PubMed DOI

Nalysnyk L, et al. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65–73. PubMed DOI

Vill K, et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet J Rare Dis. 2021;16:1–10. PubMed DOI PMC

Koppaka R. Ten Great public health achievements-United States, 2001-2010. 2011. PubMed

Forman J, et al. Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening. J Community Genet. 2013;4:59–67. PubMed DOI PMC

Mittal AK, et al. Next-generation sequencing in newborn screening: a review on clinical and economic prospects. Open Biotechnol J. 2023;17(1).

Remec ZI, et al. PubMed PMC

González-Irazabal Y, de Abajo GH, Martínez-Morillo E. Identifying and overcoming barriers to harmonize newborn screening programs through consensus strategies. Crit Rev In Clin Lab Sci. 2021;58(1):29–48. PubMed DOI

Groft SC, Posada M, Taruscio D. Progress, challenges and global approaches to rare diseases. Acta paediatrica. 2021;110(10):2711–16. PubMed DOI

Green RC, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet in Med. 2013;15(7):565–74. PubMed DOI PMC

Stark Z, Scott RH. Genomic newborn screening for rare diseases. Nat Rev Genet. 2023;24(11):755–66. PubMed DOI

Richer J, Laberge A-M. Secondary findings from next-generation sequencing: what does actionable in childhood really mean? Genet in Med. 2019;21(1):124–32. PubMed DOI

Gold NB, et al. PubMed PMC

Araia MH, Potter BK. Newborn screening education on the internet: a content analysis of North American newborn screening program websites. J Community Genet. 2011;2:127–34. PubMed DOI PMC

Tluczek A, Ersig AL, Lee S. Psychosocial issues related to newborn screening: a systematic review and synthesis. Int J Neonatal Screening. 2022;8(4):53. PubMed DOI PMC

Jessup M, et al. Parental experience of information and education processes following diagnosis of their infant with cystic fibrosis via newborn screening. J Pediatr Nurs. 2016;31(3):e233–41. PubMed DOI

Clark CC, Boardman FK. Expanding the notion of “benefit”: comparing public, parent, and professional attitudes towards whole genome sequencing in newborns. New Genet Soc. 2022;41(2):96–115. DOI

Marca G, et al. Current state and innovations in newborn screening: continuing to do good and avoid harm. Int J Neonatal Screening. 2023;9(1):15. PubMed DOI PMC

Yahyaoui R, et al. Metabolic serendipities of expanded newborn screening. Genes. 2020;11(9):1018. PubMed DOI PMC

Loeber JG, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010. Int J Neonatal Screening. 2021;7(1):15. PubMed DOI PMC

Scarpa M, et al. Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe. Lancet Regional Health-Europe; 2022. p. 13. PubMed PMC

Pollitt RJ. International perspectives on newborn screening. J Inherited Metabolic Disease. 2006;29(2–3):390–96. PubMed DOI

Sikonja J, et al. Towards achieving equity and innovation in newborn screening across Europe. Int J Neonatal Screening. 2022;8(2):31. PubMed DOI PMC

Friedman JM, et al. Genomic newborn screening: public health policy considerations and recommendations. BMC Med Genomics. 2017;10:1–13. PubMed DOI PMC

Higgins JP, Green S, editors. Cochrane handbook for systematic reviews of interventions. 2008.

Braun V, Clarke V.

Kuckartz U. Qualitative text analysis: a guide to methods, practice and using software. Qualitative Text Anal. 2013;1–192.

Lombardo S, et al. Policy-making and implementation for newborn bloodspot screening in Europe: a comparison between EURORDIS principles and UK practice. Lancet Regional Health-Europe; 2023. p. 33. PubMed PMC

Burlina AB, Corsello G. Survey of Italian pediatricians’ perspectives and knowledge about neonatal screening. Italian J Pediatrics. 2015;41:1–4. PubMed DOI PMC

Johnson F, Southern KW, Ulph F. Psychological impact on parents of an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis: a qualitative study. Int J Neonatal Screening. 2019;5(2):23. PubMed DOI PMC

Lisi EC, McCandless SE. Newborn screening for lysosomal storage disorders: views of genetic healthcare providers. J Genetic Couns. 2016;25:373–84. PubMed DOI

Stark AP, Lang CW, Ross LF. A pilot study to evaluate knowledge and attitudes of Illinois pediatricians toward newborn screening for sickle cell disease and cystic fibrosis. Am J Perinatology. 2010;169–76. PubMed

Farrell MH, et al. Experience with parent follow-up for communication outcomes after newborn screening identifies carrier status. J Pediatrics. 2020;224:37–43. e2. PubMed DOI PMC

Hayeems RZ, et al. False-positive newborn screening for cystic fibrosis and health care use. Pediatrics. 2017;140(5). PubMed

Karaceper MD, et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016;11:1–9. PubMed DOI PMC

Waisbren SE, et al. Psychosocial factors influencing parental interest in genomic sequencing of newborns. Pediatrics. 2016;137(Supple 1):S30–35. PubMed DOI PMC

Pereira S, et al. Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial. JAMA Pediatrics. 2021;175(11):1132–41. PubMed DOI PMC

Schwartz TS, et al. Effects of participation in a US trial of newborn genomic sequencing on parents at risk for depression. J Genetic Couns. 2022;31(1):218–29. PubMed DOI PMC

Farrell MH, et al. Parental preferences about Policy options regarding disclosure of incidental genetic findings in newborn screening: using videos and the internet to educate and obtain input. Int J Neonatal Screening. 2022;8(4):54. PubMed DOI PMC

Wright SJ, et al. Eliciting preferences for information provision in newborn bloodspot screening programs. Value In Health. 2017;20(4):651–61. PubMed DOI

Prakash S, et al. Newborn screening for Pompe disease: parental experiences and follow-up care for a late-onset diagnosis. J Genetic Couns. 2022;31(6):1404–20. PubMed DOI

Bailey DB Jr, et al. Maternal consequences of the detection of fragile X carriers in newborn screening. Pediatrics. 2015;136(2):e433–40. PubMed DOI PMC

Tluczek A, McKechnie AC, Brown RL. Factors associated with parental perception of child vulnerability 12 months after abnormal newborn screening results. Res In Nurs Health. 2011;34(5):389–400. PubMed DOI PMC

Lipstein EA, et al. Parents’ decision-making in newborn screening: opinions, choices, and information needs. Pediatrics. 2010;126(4):696–704. PubMed DOI

Tu W-J, et al. Psychological effects of false-positive results in expanded newborn screening in China. PLoS One. 2012;7(4):e36235. PubMed DOI PMC

DeLuca JM. Parents’ experiences of expanded newborn screening. University of Rochester School of Nursing; 2010.

Tarini BA, et al. False-positive newborn screening result and future health care use in a state medicaid cohort. Pediatrics. 2011;128(4):715–22. PubMed DOI PMC

Crossen K, et al. A qualitative study: mothers’ experiences of their child’s late-onset Pompe disease diagnosis following newborn screening. Int J Neonatal Screening. 2022;8(3):43. PubMed DOI PMC

Blom M, et al. Dilemma of reporting incidental findings in newborn screening programs for SCID: parents’ perspective on ataxia telangiectasia. Front Immunol. 2019;10:2438. PubMed DOI PMC

Conway M, et al. Pain points in parents’ interactions with newborn screening systems: a qualitative study. BMC Pediatrics. 2022;22(1):167. PubMed DOI PMC

DeLuca JM, et al. Parents’ experiences of expanded newborn screening evaluations. Pediatrics. 2011;128(1):53–61. PubMed DOI

Perobelli S, et al. Inconclusive cystic fibrosis neonatal screening results: long-term psychosocial effects on parents. Acta paediatrica. 2009;98(12):1927–34. PubMed DOI

Moody L, et al. Healthcare professionals’ and parents’ experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot. BMC Pediatrics. 2017;17:1–10. PubMed DOI PMC

La Pean A, et al. A qualitative secondary evaluation of statewide follow-up interviews for abnormal newborn screening results for cystic fibrosis and sickle cell hemoglobinopathy. Genet in Med. 2012;14(2):207–14. PubMed DOI PMC

Chudleigh J, et al. Qualitative exploration of health professionals’ experiences of communicating positive newborn bloodspot screening results for nine conditions in England. BMJ Open. 2020;10(10):e037081. PubMed DOI PMC

Cyrus A, et al. Clinic-based infant screening for Duchenne muscular dystrophy: a feasibility study. PLoS Curr. 2012;4. PubMed PMC

Kasem A, et al. Mothers’ knowledge and attitudes about newborn screening in Jordan. J Community Genet. 2022;13(2):215–25. PubMed DOI PMC

Ong BAG, et al. Knowledge, attitudes, and awareness towards newborn screening in Association with Received prenatal care: a Survey of primiparous postpartum mothers at the Philippine general Hospital. Acta Medica Philippina. 2022;56(7).

Peay HL, et al. Education and consent for population-based DNA screening: a mixed-methods evaluation of the early check newborn screening pilot study. Front Genet. 2022;13:891592. PubMed DOI PMC

van der Pal SM, et al. Parents’ views on accepting, declining, and expanding newborn bloodspot screening. PLoS One. 2022;17(8):e0272585. PubMed DOI PMC

Wade CH, Elliott KR. Young adults’ attitudes toward pediatric whole-genome sequencing. Personalized Med. 2016;13(6):541–52. PubMed DOI

Lang CW, et al. Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis. Am J Med Genet Part A. 2009;149(11):2424–29. PubMed DOI PMC

Wright SJ, et al. Understanding midwives’ preferences for providing information about newborn bloodspot screening. MDM Policy Pract. 2018;3(1):2381468317746170. PubMed DOI PMC

Wu X, et al. Are we ready for newborn genetic screening? A cross-sectional Survey of healthcare professionals in Southeast China. Front Pediatrics. 2022;10:875229. PubMed DOI PMC

Leppert K, et al. Genetic counselors’ experience with and opinions on the management of newborn screening incidental carrier findings. J Genetic Couns. 2018;27(6):1328–40. PubMed DOI PMC

Salm N, Yetter E, Tluczek A. Informing parents about positive newborn screen results: parents’ recommendations. J Child Health Care. 2012;16(4):367–81. PubMed DOI PMC

Temme R, et al. Assessment of parental understanding of positive newborn screening results and carrier status for cystic fibrosis with the use of a short educational video. J Genetic Couns. 2015;24(3):473–81. PubMed DOI

Raspa M, et al. Information and emotional support needs of families whose infant was diagnosed with SCID through newborn screening. Front Immunol. 2020;11:524796. PubMed DOI PMC

Chudleigh J, et al. Parents’ experiences of receiving the initial positive newborn screening (NBS) result for cystic fibrosis and sickle cell disease. J Genetic Couns. 2016;25:1215–26. PubMed DOI PMC

Sims AM, et al. Parents’ experiences and needs regarding infant sickle cell trait results. Pediatrics. 2022;149(5):e2021053454. PubMed DOI PMC

Acharya K, Ross LF. Fragile X screening: attitudes of genetic health professionals. Am J Med Genet Part A. 2009;149(4):626–32. PubMed DOI PMC

Hayeems RZ, et al. Primary care providers’ role in newborn screening result notification for cystic fibrosis. Can Fam Physician. 2021;67(6):439–48. PubMed DOI PMC

Hayeems RZ, et al. Primary care role in expanded newborn screening: after the heel prick test. Can Fam Physician. 2013;59(8):861–68. PubMed PMC

Bansal S, Kasturi K, Chin VL. National survey assessment of the United States’ pediatric residents’ knowledge, attitudes, and practices regarding newborn screening. Int J Neonatal Screening. 2018;5(1):3. PubMed DOI PMC

Chudleigh J, et al. Co-designing improved communication of newborn bloodspot screening results to parents: mixed methods study. J Participatory Med. 2022;14(1):e33485. PubMed DOI PMC

Azzopardi PJ, et al. Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets. Genet in Med. 2020;22(3):566–73. PubMed DOI PMC

Lilley M, et al. Newborn screening for cystic fibrosis in Alberta: two years of experience. Paediatr Child Health. 2010;15(9):590–94. PubMed DOI PMC

Wang X, et al. Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population. Orphanet J Rare Dis. 2022;17(1):1–10. PubMed DOI PMC

Plass AM, et al. Neonatal screening for treatable and untreatable disorders: prospective parents’ opinions. Pediatrics. 2010;125(1):e99–106. PubMed DOI

Davids L, et al. Health care practitioners’ experience-based opinions on providing care after a positive newborn screen for Pompe disease. Mol Genet Metab. 2021;134(1–2):20–28. PubMed DOI

Gokdemir Y, et al. Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey. Pediatr Pulmonol. 2021;56(10):3223–31. PubMed DOI

Paquin RS, et al. Parental intentions to enroll children in a voluntary expanded newborn screening program. Soc Sciamp; Med. 2016;166:17–24. PubMed DOI PMC

Weinreich SS, et al. Public support for neonatal screening for Pompe disease, a broad-phenotype condition. Orphanet J Rare Dis. 2012;7(1):1–13. PubMed DOI PMC

Timmins GT, et al. Diverse parental perspectives of the social and educational needs for expanding newborn screening through genomic sequencing. Public Health Genomics. 2022;25(5–6):185–92. PubMed DOI

Joseph G, et al. Parental views on expanded newborn screening using whole-genome sequencing. Pediatrics. 2016;137(Supplement_1):S36–46. PubMed DOI PMC

Miller FA, et al. Understanding sickle cell carrier status identified through newborn screening: a qualitative study. Eur J Hum Genet. 2010;18(3):303–08. PubMed DOI PMC

Ulph F, et al. Familial influences on antenatal and newborn haemoglobinopathy screening. Ethnicity Health. 2011;16(4–5):361–75. PubMed DOI

Bombard Y, et al. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet. 2014;22(11):1248–54. PubMed DOI PMC

Boardman FK, Sadler C, Young PJ. Newborn genetic screening for spinal muscular atrophy in the UK: the views of the general population. Mol Genet & Evidence Med. 2018;6(1):99–108. PubMed PMC

Goldenberg AJ, et al. Genomics and newborn screening: perspectives of public health programs. Int J Neonatal Screening. 2022;8(1):11. PubMed DOI PMC

Cao M, et al. Australian healthcare professionals’ perspectives on the ethical and practical issues associated with genomic newborn screening. J Genetic Couns. 2023;32(2):376–86. PubMed DOI

Parens E, Appelbaum PS. On what we have learned and still need to learn about the psychosocial impacts of genetic testing. Wiley Online Library; 2019. p. S2–9. PubMed PMC

Thomas C, et al. Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results. Clin Immunol. 2019;202:33–39. PubMed DOI

Peterson L, et al. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. J Genetic Couns. 2022;31(1):252–60. PubMed DOI

Bailey DB Jr, et al. Caregiver opinions about fragile X population screening. Genet in Med. 2012;14(1):115–21. PubMed DOI PMC

Pruniski B, Lisi E, Ali N. Newborn screening for Pompe disease: impact on families. J Inherited Metabolic Disease. 2018;41:1189–203. PubMed DOI

Acharya K, Lang CW, Ross LF. A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. J Natl Med Assoc. 2009;101(11):1163–72. PubMed

Vansenne F, et al. Providing genetic risk information to parents of newborns with sickle cell trait: role of the general practitioner in neonatal screening. Genetic Test Mol Biomarker. 2011;15(10):671–75. PubMed DOI

Koopmans J, Ross LF. Identification and management of sickle cell trait by young physicians. J Natl Med Assoc. 2012;104(5–6):299–304. PubMed

Acharya K, Schindler A. Developmental and behavioral pediatricians’ attitudes toward screening for fragile X. Am J On Intellect And Dev Disabilities. 2013;118(4):284–93. PubMed DOI PMC

Bukini D, et al. Influence of gender norms in relation to child’s quality of care: follow-up of families of children with SCD identified through NBS in Tanzania. J Community Genet. 2021;12:143–54. PubMed DOI PMC

de Bekker-Grob EW, et al. Sample size requirements for discrete-choice experiments in healthcare: a practical guide. Vol. 8. The Patient-Patient-Centered Outcomes Research; 2015. p. 373–84. PubMed PMC

Burton PR, et al. Size matters: just how big is big? Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol. 2009;38(1):263–73. PubMed DOI PMC

de Bekker-Grob EW, et al. Can healthcare choice be predicted using stated preference data? Soc Sciamp; Med. 2020;246:112736. PubMed DOI

Ellington S, et al. Characteristics of women of reproductive age with laboratory-confirmed SARS-CoV-2 infection by pregnancy status-United States, January 22-june 7, 2020. Morbidity And Mortal Wkly Report. 2020;69(25):769. PubMed DOI PMC

Siblini H, et al. Assessing the hepatic safety of epigallocatechin gallate (EGCG) in reproductive-aged women. Nutrients. 2023;15(2):320. PubMed DOI PMC

Hasdemir PS, et al. The effect of COVID-19 vaccinations on menstrual cycle and serum anti-Mullerian hormone levels in reproductive age women. Hum Fertil. 2023;26(1):153–61. PubMed DOI

Therrell BL, et al. Current status of newborn screening worldwide: 2015. In: Seminars in perinatology. Elsevier; 2015. PubMed

Limwongse C. Medical genetic services in a developing country: lesson from Thailand. Curr Opin In Pediatrics. 2017;29(6):634–39. PubMed DOI

Hosen MJ, et al. Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation. Orphanet J Rare Dis. 2021;16(1):1–15. PubMed DOI PMC

Bell SC, et al. The future of cystic fibrosis care: a global perspective. The Lancet Respir Med. 2020;8(1):65–124. PubMed DOI PMC

da Silva LVRF, et al. Cystic fibrosis in low and middle-income countries (LMIC): a view from four different regions of the world. Paediatric Respir Rev. 2021;38:37–44. PubMed

Ware RE, Odame I. Newborn screening with sickle cell point of care: a valuable resource in low-income settings. Pediatrics. 2019;144(4). PubMed

Chung YS, Park S-K. Current status of newborn hearing screening in low-income families in the southeastern region of Korea. Epidemiol and Health. 2018;40. PubMed PMC

Seyi-Olajide JO, et al. Screening methods for congenital anomalies in low and lower-middle income countries: a systematic review. J Pediatr Surg. 2023. PubMed

Bin S, Phou K, Im S. Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening. BMJ Case Rep CP. 2023;16(5):e249997. PubMed DOI PMC

Groulx-Boivin E, et al. Variability in newborn screening across Canada: spinal muscular atrophy and beyond (P4-9.002). AAN Enterprises. 2023. PubMed

Jakhelln Laugen N, et al. Newborn hearing screening and intervention in children with unilateral hearing impairment: clinical practices in three nordic countries. 2021. PubMed PMC

Balaj M, et al. Parental education and inequalities in child mortality: a global systematic review and meta-analysis. The Lancet. 2021;398(10300):608–20. PubMed DOI PMC

Sohn H, Timmermans S. Inequities in newborn screening: race and the role of medicaid☆. Vol. 9. SSM-Population Health; 2019. p. 100496. PubMed PMC

Schlüter DK, et al. Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK cf registry-based study. Thorax. 2020;75(2):123–31. PubMed DOI PMC

Mandal J, Ponnambath DK, Parija SC. Bioethics: a brief review. Trop Parasitol. 2017;7(1):5. PubMed DOI PMC

Barugahare J, Kutyabami P. Nature and history of the CIOMS International ethical guidelines and implications for local implementation: a perspective from East Africa. Dev World Bioethics. 2020;20(4):175–83. PubMed DOI

Fayemi AK, Macaulay-Adeyelure O. PubMed PMC

Pratt B, de Vries J. Where is knowledge from the global south? An account of epistemic justice for a global bioethics. J Med Ethics. 2023;49(5):325–34. PubMed DOI PMC

Castellani C, et al. Newborn screening for cystic fibrosis. Lancet Respir Med. 2016;4(8):653–61. PubMed DOI

Ware RE, et al. Sickle cell disease. The Lancet. 2017;390(10091):311–23. PubMed DOI

Green VA. Parental reaction to diagnosis of infant hearing loss. Adv Ment Health. 2020;18(1):62–72. DOI

Sadat R, et al. Increased parental anxiety and a benign clinical course: infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia. Mol Genet Metab. 2020;129(1):20–25. PubMed DOI

Ravi R, et al. Knowledge and attitude of parents/caregivers towards hearing loss and screening in newborns-a systematic review. Int J Audiol. 2016;55(12):715–22. PubMed DOI

Rosettenstein KR, et al. A systematic review of the outcomes of false-positive results on newborn screening for congenital hypothyroidism. Clin Endocrinol. 2021;95(5):766–81. PubMed DOI

Vernooij-van Langen A, et al. Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis. Mol Genet And Metab Rep. 2014;1:334–44. PubMed PMC

Zaunseder E, et al. Opportunities and challenges in machine learning-based newborn screening-a systematic literature review. JIMD Rep. 2022;63(3):250–61. PubMed PMC

Davies R, Ives J, Dunn M. A systematic review of empirical bioethics methodologies. BMC Med Ethics. 2015;16(1):1–13. PubMed DOI PMC

Huxtable R, Ives J. Mapping, framing, shaping: a framework for empirical bioethics research projects. BMC Med Ethics. 2019;20(1):1–8. PubMed DOI PMC

Pavarini G, et al. Design bioethics: a theoretical framework and argument for innovation in bioethics research. Am J Bioethics. 2021;21(6):37–50. PubMed DOI PMC

Samuel G, et al. Ethical preparedness in health research and care: the role of behavioural approaches. BMC Med Ethics. 2022;23(1):115. PubMed DOI PMC

Goldenberg AJ, et al. Including ELSI research questions in newborn screening pilot studies. Genet in Med. 2019;21(3):525–33. PubMed DOI

Gereis J, et al. Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review. Eur J Hum Genet. 2022;30(11):1216–25. PubMed DOI PMC

Kruse J, et al. Genetic testing for rare diseases: a systematic review of ethical aspects. Front Genet. 2022;12:701988. PubMed DOI PMC

Ziegler A, et al. Expanded newborn screening using genome sequencing for early actionable conditions. Jama. 2025;333(3):232–40. PubMed DOI PMC

Ashenden AJ, et al. The multi-omic approach to newborn screening: opportunities and challenges. Int J Neonatal Screening. 2024;10(3):42. PubMed DOI PMC

Armstrong B, et al. Parental attitudes toward standard newborn screening and newborn genomic sequencing: findings from the BabySeq study. Front Genet. 2022;13:867371. PubMed DOI PMC

Prosenc B, et al. Perception of genomic newborn screening among peripartum mothers. Eur J Hum Genet. 2024;32(2):163–70. PubMed DOI PMC

Cazzorla C, et al. Newborn screening for Gaucher disease: parental stress and psychological burden. Int J Neonatal Screening. 2025;11(1):14. PubMed DOI PMC

Okeke CO, et al. Sustainability of newborn screening for sickle cell disease in resource-poor countries: a systematic review. PLoS One. 2024;19(9):e0305110. PubMed DOI PMC

Kerr SM, et al. Actionable genetic variants in 4, 198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results. The Am J Hum Genet. 2025;112(4):793–807. PubMed DOI PMC

Kemper AR, et al. Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations. Pediatrics. 2007 1334;120(5):e1327–e. PubMed

Hill MK, et al. A systematic review of population screening for fragile X syndrome. Genet in Med. 2010;12(7):396–410. PubMed DOI

Aragon-Gawinska K, et al. Spinal muscular atrophy treatment in patients identified by newborn screening-A systematic review. Genes. 2023;14(7):1377. PubMed DOI PMC

de Freitas Nakata KC, da Silva Pereira PP, Riveros BS. Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne muscular dystrophy: a systematic review. Clin Biochem. 2021;98:1–9. PubMed DOI

Carlton J, et al. Acceptability of childhood screening: a systematic narrative review. Vol. 193. Public Health; 2021. p. 126–38. PubMed PMC

Beauchamp TL, Childress JF. Principles of biomedical Ethics. In: Eighth. Oxford University Press; 2019.

Clarke AJ, Wallgren-Pettersson C. Ethics in genetic counselling. J Community Genet. 2019;10(1):3–33. PubMed DOI PMC

Richardson JS, et al. Health and economic outcomes of newborn screening for infantile-onset Pompe disease. Genet in Med. 2021;23(4):758–66. PubMed DOI PMC