Patient organizations: advocating for timely newborn screening & improved quality of life

Abstract

Timely diagnosis is a crucial first step for individuals with rare diseases, significantly affecting their access to treatment, care, and overall well-being. Patient organizations have actively engaged in advocating for Newborn Screening (NBS) to raise awareness about rare diseases. This article examines the efforts of six patient organizations worldwide, each functioning as a national, regional or disease-specific alliance with distinct characteristics. These organizations strongly support NBS due to its proven potential to enable early diagnosis and facilitate timely referral to appropriate treatment and care. They employ several approaches to advocate for the expansion of screening panels or implementation of NBS programs, including education, evidence gathering, and fostering multidisciplinary collaboration. There are opportunities to engage the public and emphasize the value of NBS as a public health service that benefits everyone.

Keywords

Newborn screening / prevention / patient advocacy / rare diseases / newborn screening policy / newborn screening ethics / bloodspot

References

[1] Kenny T,Freedman A.The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis.Rare Dis Orphan Drugs J2022;1:7

[2] Greene W. Diagnosing rare diseases shouldn’t be so hard. Available from: https://lableaders.roche.com/global/en/articles/diagnosing-rare-diseases.html [Last accessed on 13 Aug 2024]

[3] Nguengang Wakap S,Olry A.Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.Eur J Hum Genet2020;28:165-73 PMCID:PMC6974615

[4] Rare Diseases International. Operational description of rare diseases. Available from: https://www.rarediseasesinternational.org/description-for-rd/ [Last accessed on 13 Aug 2024]

[5] Therrell BL,Borrajo GJC.Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020-2023).Int J Neonatal Screen2024;10:38 PMCID:PMC11203842

[6] Therrell BL,Loeber JG.Current status of newborn screening worldwide: 2015.Semin Perinatol2015;39:171-87

[7] Therrell BL Jr.Newborn screening in the developing countries.Curr Opin Pediatr2018;30:734-9

[8] Loeber JG,Zetterström RH.Neonatal screening in europe revisited: an ISNS perspective on the current state and developments since 2010.Int J Neonatal Screen2021;7:15

[9] Ley 1980 de 2019. Available from: https://www.minsalud.gov.co/Normatividad_Nuevo/Forms/DispForm.aspx?ID=5699 [Last accessed on 15 Aug 2024]

[10] Zois A. Expansion of cyprus national newborn screening programme. Available from: https://www.ipetitions.com/petition/expansion-of-cyprus-national-newborn-screening [Last accessed on 13 Aug 2024]

[11] Association for inherited metabolic diseases "Aspida Zois", cyprus. Available from: https://www.aspidazois.com/en/%CE%BD%CE%B5%CE%B1-%CE%B1%CE%BD%CE%B1%CE%BA%CE%BF%CE%B9%CE%BD%CF%89%CF%83%CE%B5%CE%B9%CF%83/# [Last accessed on 13 Aug 2024]

[12] Kountouris P,Papasavva T.The molecular spectrum and distribution of haemoglobinopathies in cyprus: a 20-year retrospective study.Sci Rep2016;6:26371 PMCID:PMC4873807

[13] Cousens NE,Metcalfe SA.Carrier screening for beta-thalassaemia: a review of international practice.Eur J Hum Genet2010;18:1077-83 PMCID:PMC2987452

[14] Skrinska V,Schielen P.Introducing and expanding newborn screening in the MENA region.Int J Neonatal Screen2020;6:12 PMCID:PMC7422969

[15] EUROPLAN. European project for rare diseases national plans development. Available from: http://www.europlanproject.eu/Events?idEventType=13 [Last accessed on 13 Aug 2024]

[16] Department: statistics South Africa. General Household Survey 2022. Available from: https://www.statssa.gov.za/publications/P0318/P03182022.pdf [Last accessed on 15 Aug 2024].

[17] Malherbe HL,Carrihill M.Newborn screening in South Africa: the past, present, and plans for the future.Rare Dis Orphan Drugs J2024;3:7

[18] Jain R. Rare diseases in Asia and the Pacific must be tackled too. 2020. Available from: https://www.asiapathways-adbi.org/2020/07/rare-diseases-asia-pacific-must-be-tackled-too/ [Last accessed on 13 Aug 2024]

[19] Jain R,Foster L,Nishimura Y.Paradox of possibilities: the rare landscape in the Asia Pacific region.Rare Dis Orphan Drugs J2024;3:8

[20] National Health Security Office. Tandem mass spectrometry newborn screening is available nationwide. 2023. Available from: http://eng.nhso.go.th/view/1/DescriptionNews/Tandem-mass-spectrometry-newborn-screening-is-available-nationwide/555/EN-US [Last accessed on 13 Aug 2024][

[21] Tajima T.Newborn screening in Japan-2021.Int J Neonatal Screen2022;8:3 PMCID:PMC8788497

[22] Kapoor S,Thelma BK.Charting the course: towards a comprehensive newborn screening program in India.Int J Neonatal Screen2024;10:43 PMCID:PMC11270161

[23] Padilla CD,Alcausin MMLB.Successful implementation of expanded newborn screening in the Philippines using tandem mass spectrometry.Int J Neonatal Screen2022;8:8 PMCID:PMC8883932

[24] Wilaiwongsathien K,Rattanasiri S,Tangshewinsirikul C.Parental awareness, knowledge, and attitudes regarding current and future newborn bloodspot screening: the first report from Thailand.Int J Neonatal Screen2023;9:25 PMCID:PMC10204393

[25] Padilla CD,Munda KV.Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system.Rare Dis Orphan Drugs J2023;2:27

[26] Millis N.View from inside: patient advocacy in guiding policy development for metabolic disorders.J Inherit Metab Dis2022;45:866-71

[27] Taiwan Foundation for Rare Disorders. Summary of 2022 annual report. Available from: https://www.tfrd2.org.tw/tfrd_eng/index.php/tfrd3/annual_content/id/20 [Last accessed on 13 Aug 2024]

[28] Chien YH.The modern face of newborn screening.Pediatr Neonatol2023;64 Suppl 1:S22-9

[29] Rare Voices Australia. Department of health and aged care publishes its ‘Newborn bloodspot screening expansion - readiness assessment executive summary’. 2024. Available from: https://rarevoices.org.au/department-of-health-and-aged-care-publishes-its-newborn-bloodspot-screening-expansion-readiness-assessment-executive-summary/ [Last accessed on 13 Aug 2024]

[30] EURORDIS. Key principles for newborn screening. Available from: https://www.eurordis.org/publications/key-principles-for-newborn-screening/ [Last accessed on 13 Aug 2024]

[31] EURORDIS. Major survey reveals rare disease community’s overwhelming support for screening at birth. 2024. Available from: https://www.eurordis.org/newborn-screening-survey/ [Last accessed on 13 Aug 2024]

[32] Dangouloff T,Servais L.SMA NBS World Study GroupNewborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go.Neuromuscul Disord2021;31:574-82

[33] European Alliance for Newborn Screening in SMA. Spinal muscular atrophy: Screen at birth, save lives. 2021. Available from: https://nbs-alliance-assets.gpm.digital/Spinal_muscular_atrophy_Screen_at_birth_save_lives_Whitepaper_SMA_NBS_Alliance_v2_25_NOV_2021_aa4fca4159.pdf [Last accessed on 15 Aug 2024]

[34] Yska HAF,Barendsen RW,Kemp S.Attitudes of patients with adrenoleukodystrophy towards sex-specific newborn screening.Int J Neonatal Screen2023;9:51 PMCID:PMC10531683

[35] Giugliani R,Hafez S.Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.Front Genet2022;13:1053559 PMCID:PMC9773081

[36] Laugwitz L,Adang LA.Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.Eur J Paediatr Neurol2024;49:141-54

[37] Dawkins HJS,Lasko P.International Rare Diseases Research Consortium (IRDiRC)Progress in rare diseases research 2010-2016: an IRDiRC perspective.Clin Transl Sci2018;11:11-20 PMCID:PMC5759730

[38] van Lin N, Paliouras G, Vroom E, 't Hoen PAC, Roos M. How patient organizations can drive FAIR data efforts to facilitate research and health care: a report of the virtual second international meeting on duchenne data sharing, March 3, 2021.J Neuromuscul Dis2021;8:1097-108 PMCID:PMC8673524

[39] Gallin EK,Califf RM.Forging stronger partnerships between academic health centers and patient-driven organizations.Acad Med2013;88:1220-4

[40] Sikonja J,Scarpa M.Towards achieving equity and innovation in newborn screening across Europe.Int J Neonatal Screen2022;8:31 PMCID:PMC9149820