Regulatory landscape of providing information on newborn screening to parents across Europe

Franková V. Driscoll R.O. Jansen M.E. Loeber J.G. Kožich V. Bonham J. Borde P. Brincat I. Cheillan D. Dekkers E. Fingerhut R. Kuš I.B. Girginoudis P. Groselj U. Hougaard D. Knapková M. la Marca G. Malniece I. Nanu M.I. Nennstiel U. Olkhovych N. Oltarzewski M. Pettersen R.D. Racz G. Reinson K. Salimbayeva D. Songailiene J. Vilarinho L. Vogazianos M. Zetterström R.H. Zeyda M. Deans Z.C. van Asperen C.J. Henderson M.J. Barton D. Dequeker E.M.C. Carreira I.M. de Ravel T. Rack K. Õunap K.
January 2021 Springer Nature

European Journal of Human Genetics
2021 #29 Issue 1 67 - 78 pp.

Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.

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Department of Paediatrics and Inherited Metabolic Disorders, Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic
Institute for Medical Humanities, Charles University First Faculty of Medicine, Prague, Czech Republic
Centre for Health Protection, National Institute for Public Health and the Environment, Bilthoven, Netherlands
International Society for Neonatal Screening Office, Bilthoven, Netherlands
Division of Pharmacy, Diagnostics and Genetics, Sheffield Children’s NHS Foundation Trust, Sheffiled, United Kingdom
Laboratoire National de Santé, Dudelange, Luxembourg
Mater Dei Hospital, Imsida, Malta
Hospices Civils de Lyon, Lyon, France
RIVM Centre for Population Screening, Bilthoven, Netherlands
University Children’s Hospital Zurich, Zurich, Switzerland
University Hospital Centre, Zagreb, Croatia
Institute Child Health, Athens, Greece
UMC—University Children’s Hospital, Ljubljana, Slovenia
Statens Serum Institute, Copenhagen, Denmark
Children’s University Hospital, Banska Bystrica, Slovakia
Meyer Children’s University Hospital Tuscany, Florence, Italy
Children’s University Hospital Riga, Riga, Latvia
National Health Programs Management Unit of National Institute for Mother & Child Health, Bucharest, Romania
Screening Center of the Bavarian Health and Food Safety Authority, Oberschleissheim, Germany
National Children’s Hospital OHMATDYT, Kiev, Ukraine
Institute of Mother and Child, Warsaw, Poland
Norwegian National Unit for Newborn Screening, Oslo University Hospital, Oslo, Norway
Department of Paediatrics, University of Szeged, Szeged, Hungary
Tartu University Hospital, Tartu, Estonia
Scientific centre of Gynaecology, Obstetrics and Perinatology, Almaty, Kazakhstan
Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania
National Institute of Health Dr Ricardo Jorge, Porto, Portugal
Centre for Preventive Paediatrics, Limassol, Cyprus
Centre for inherited metabolic diseases, Karolinska University Hospital, Solna, Sweden
Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
Genomics Quality Assessment, NHS Lothian, Royal Infirmary of Edinburgh, Edinburgh, United Kingdom
Department of clinical genetics, Leiden University Medical Center, Leiden, Netherlands
Biochemical Genetics, St James’s University Hospital, Leeds, United Kingdom
UCD School of Medicine & Medical Sciences, University College Dublin, Belfield, Dublin, Ireland
Biomedical Quality Assurance Research Unit, Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium
Department of Medical Diagnostics, University Hospitals Leuven, Leuven, Belgium
Cytogenetics and Genomics Laboratory, Faculty of Medicine; iCBR-CIMAGO, Centre of Investigation on Environment, Genetics and Oncobiology—Faculty of Medicine, University of Coimbra, Coimbra, Portugal
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Centre for Medical Genetics, Brussels, Belgium
Genomics Quality Assessment, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia

Department of Paediatrics and Inherited Metabolic Disorders
Institute for Medical Humanities
Centre for Health Protection
International Society for Neonatal Screening Office
Division of Pharmacy
Laboratoire National de Santé
Mater Dei Hospital
Hospices Civils de Lyon
RIVM Centre for Population Screening
University Children’s Hospital Zurich
University Hospital Centre
Institute Child Health
UMC—University Children’s Hospital
Statens Serum Institute
Children’s University Hospital
Meyer Children’s University Hospital Tuscany
Children’s University Hospital Riga
National Health Programs Management Unit of National Institute for Mother & Child Health
Screening Center of the Bavarian Health and Food Safety Authority
National Children’s Hospital OHMATDYT
Institute of Mother and Child
Norwegian National Unit for Newborn Screening
Department of Paediatrics
Tartu University Hospital
Scientific centre of Gynaecology
Vilnius University Hospital Santaros Klinikos
National Institute of Health Dr Ricardo Jorge
Centre for Preventive Paediatrics
Centre for inherited metabolic diseases
Department of Paediatrics and Adolescent Medicine
Genomics Quality Assessment
Department of clinical genetics
Biochemical Genetics
UCD School of Medicine & Medical Sciences
Biomedical Quality Assurance Research Unit
Department of Medical Diagnostics
Cytogenetics and Genomics Laboratory
Vrije Universiteit Brussel (VUB)
Genomics Quality Assessment
Department of Clinical Genetics

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