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Rare Disease and Orphan Drugs Journal

C O NT E NT S

Topic: Newborn Screening II - Policy, Ethics and Patient Perspectives

Review

1 Development of newborn screening policies in Spain 2003-2022: what do we actually need to reach an
agreement?
Cristina Valcárcel-Nazco, Lidia García-Pérez, Renata Linertová, Carmen Guirado-Fuentes,
Aránzazu Hernández-Yumar, Lucinda Paz-Valiñas, Paula Cantero-Muñoz, Manuel Posada, Pedro Serrano-Aguilar

2 The Australian landscape of newborn screening in the genomics era
Charli Ji, Michelle A Farrar, Sarah Norris, Kaustuv Bhattacharya, Bruce Bennetts, Ainsley J Newson,
Louise Healy, Nicole Millis, Didu S Kariyawasam

Perspective
3 Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine
newborn screening system
Carmencita D. Padilla, Michelle E. Abadingo, Katherine V. Munda, Bradford L. Therrell

Commentary
4 Newborn screening in South Africa: the past, present, and plans for the future
Helen L. Malherbe, Jim Bonham, Michelle Carrihill, Karmani Chetty, Engela H. Conradie, Marli Dercksen,
Hilary Goeiman, Marianne C. M. Gomes, Brenda Klopper, Neil McKerrow, Carmencita Padilla, Tahir S. Pillay,

Bronwyn Roussot, Tumelo M. Satekge, Michael Urban, George van der Watt, Helena Vreede, Dianne Webster,
Marco Zampoli, Barend C. Vorster

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

Helen L. Malherbe, Ritu Jain, Victoria Antoniadou, Marie-Christine Ouillade, Diego Fernando Gil Cardozo,
Gulcin Gumus, Nokuthula Sikhethiwe Kitikiti, Lucy McKay, Chiuhui Mary Wang

Rare Disease and Orphan Drugs Journal