Stephanie C M Nijmeijer1, Thirsa Conijn2, Phillis Lakeman3, Lidewij Henneman4, Frits A Wijburg5, Lotte Haverman6. 1. Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Meibergdreef 9, Amsterdam, Netherlands. Electronic address: s.c.nijmeijer@amc.uva.nl. 2. Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Meibergdreef 9, Amsterdam, Netherlands. Electronic address: t.conijn@amc.uva.nl. 3. Amsterdam UMC, University of Amsterdam, Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Meibergdreef 9, Amsterdam, Netherlands. Electronic address: p.lakeman@amc.uva.nl. 4. Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, Amsterdam Reproduction and Development Research Institute, De Boelelaan 1117, Amsterdam, Netherlands. Electronic address: l.henneman@vumc.nl. 5. Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Meibergdreef 9, Amsterdam, Netherlands. Electronic address: f.a.wijburg@amc.uva.nl. 6. Amsterdam UMC, University of Amsterdam, Psychosocial Department, Emma Children's Hospital, Meibergdreef 9, Amsterdam, Netherlands. Electronic address: l.haverman@amc.uva.nl.
Abstract
BACKGROUND: A substantial number of severely debilitating and often ultimately fatal inborn errors of metabolism (IEMs) still lack an effective disease-modifying treatment. Informing couples before a pregnancy about an increased risk of having a child with an inherited disorder is now feasible by preconception expanded carrier screening (ECS). While knowledge about carrier status enhances reproductive autonomy, it may also result in ethical dilemmas. The purpose of this study was to assess the attitudes of the general Dutch population towards preconception ECS and to investigate which factors influence these attitudes. METHODS: Data collection was carried out in collaboration with a market research agency. In total, 1188 Dutch individuals of reproductive age (18-45 years) were invited by email to complete an online ECS questionnaire in 2016. Prior to the start of the questionnaire, a written explanation of the concepts of autosomal recessive (AR) inheritance, carrier status and ECS was presented. RESULTS: The questionnaire was completed by 781 individuals (65.7%), of whom 31% indicated they would take an ECS test themselves. In addition, 55% agreed that ECS should be offered to all prospective parents. The most frequently selected argument in favor of ECS (47.2%) was that participants want to spare a child from a life with a severe hereditary disorder. The reason most often mentioned not to participate in ECS (48%) was that participants reported not having a hereditary disorder in the family. The majority preferred receiving individual test results above a couple-based disclosure method in which participants receive the carrier status results only when they are a carrier couple of the same disorder. Participants with religious beliefs were less likely to participate in ECS, whereas participants who were considering a (future) pregnancy were more likely to participate. CONCLUSION: Our study demonstrates an overall positive attitude among participants of reproductive age in the general Dutch population towards preconception ECS. A striking misconception is that many of the participants believe that ECS is of interest only for those with a positive family history of one of the hereditary disorders. This finding emphasizes the importance of providing understandable, balanced information and education to the general public regarding the concepts of inheritance when presenting the option of carrier screening. Our results provide valuable insights that can be used in the debate about the responsible implementation of preconception ECS for AR disorders, including IEMs.
BACKGROUND: A substantial number of severely debilitating and often ultimately fatal inborn errors of metabolism (IEMs) still lack an effective disease-modifying treatment. Informing couples before a pregnancy about an increased risk of having a child with an inherited disorder is now feasible by preconception expanded carrier screening (ECS). While knowledge about carrier status enhances reproductive autonomy, it may also result in ethical dilemmas. The purpose of this study was to assess the attitudes of the general Dutch population towards preconception ECS and to investigate which factors influence these attitudes. METHODS: Data collection was carried out in collaboration with a market research agency. In total, 1188 Dutch individuals of reproductive age (18-45 years) were invited by email to complete an online ECS questionnaire in 2016. Prior to the start of the questionnaire, a written explanation of the concepts of autosomal recessive (AR) inheritance, carrier status and ECS was presented. RESULTS: The questionnaire was completed by 781 individuals (65.7%), of whom 31% indicated they would take an ECS test themselves. In addition, 55% agreed that ECS should be offered to all prospective parents. The most frequently selected argument in favor of ECS (47.2%) was that participants want to spare a child from a life with a severe hereditary disorder. The reason most often mentioned not to participate in ECS (48%) was that participants reported not having a hereditary disorder in the family. The majority preferred receiving individual test results above a couple-based disclosure method in which participants receive the carrier status results only when they are a carrier couple of the same disorder. Participants with religious beliefs were less likely to participate in ECS, whereas participants who were considering a (future) pregnancy were more likely to participate. CONCLUSION: Our study demonstrates an overall positive attitude among participants of reproductive age in the general Dutch population towards preconception ECS. A striking misconception is that many of the participants believe that ECS is of interest only for those with a positive family history of one of the hereditary disorders. This finding emphasizes the importance of providing understandable, balanced information and education to the general public regarding the concepts of inheritance when presenting the option of carrier screening. Our results provide valuable insights that can be used in the debate about the responsible implementation of preconception ECS for AR disorders, including IEMs.
Authors: Lieke M van den Heuvel; Nina van den Berg; A Cecile J W Janssens; Erwin Birnie; Lidewij Henneman; Wybo J Dondorp; Mirjam Plantinga; Irene M van Langen Journal: Eur J Hum Genet Date: 2022-09-12 Impact factor: 5.351
Authors: Ivy van Dijke; Carla G van El; Phillis Lakeman; Mariëtte Goddijn; Tessel Rigter; Martina C Cornel; Lidewij Henneman Journal: PLoS One Date: 2022-06-21 Impact factor: 3.752
Authors: Ivy van Dijke; Phillis Lakeman; Naoual Sabiri; Hanna Rusticus; Cecile P E Ottenheim; Inge B Mathijssen; Martina C Cornel; Lidewij Henneman Journal: Eur J Hum Genet Date: 2021-06-21 Impact factor: 4.246