Parental Opinions about the Expansion of the Neonatal Screening Programme

Community Genetics
Symone DetmarEsther Hosli

Abstract

Advances in genomics will open up opportunities in the fields of genetic testing, early diagnosis and disease treatment. While neonatal screening is the field of application par excellencefor these developments, the debate on its potential benefits and drawbacks is mainly theoretically driven and based on the opinions of professionals. We conducted a qualitative study of the perceptions, preferences and needs of parents (and parents to be) with respect to expansion of the neonatal screening programme. Seven focus group discussions were conducted. Using disease scenarios, 4 examples of conditions amenable to neonatal screening were discussed in depth. All focus group discussions were audio taped and content analysed. Participants thought that the medical benefits of screening were very important for the child. Assuming the availability of effective early medical treatment, almost 100% would be willing to participate in a screening programme. If such treatment were absent, their potential willingness would be much lower. The divergence in attitudes and preferences we found in this study reflected the complexity inherent in any consideration of screening for additional conditions. To implement such options successfully and to dire...Continue Reading

References

Jun 18, 1983·British Medical Journal·M A Firth, E J Wilkinson
Jun 1, 1994·Archives of Disease in Childhood·J Fenton-MayA Clarke
Jan 22, 2000·BMJ : British Medical Journal·C PopeN Mays
Jan 8, 2000·Acta Paediatrica. Supplement·G Hermerén
Oct 13, 2000·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·K MohamedP Nicolaides
Mar 8, 2002·Archives of Disease in Childhood. Fetal and Neonatal Edition·E P ParsonsD M Bradley
Dec 24, 2002·Archives of Disease in Childhood·N J Shaw
Dec 24, 2002·Archives of Disease in Childhood·E P ParsonsA J Clarke
Jun 1, 2005·Community Genetics·Elizabeth Campbell, Lainie Friedman Ross
Apr 29, 2008·Bulletin of the World Health Organization·Anne AndermannVéronique Déry

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Citations

Apr 9, 2011·Journal of Community Genetics·Dirk Stemerding
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Donald B BaileyDebra Skinner
May 7, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Beth KladnyLakshmanan Krishnamurti
Mar 15, 2012·Orphanet Journal of Rare Diseases·Stephanie Shifra WeinreichMarloes Louise Catharina Hagemans
Aug 10, 2010·Annual Review of Genomics and Human Genetics·Celeste M Condit
Aug 16, 2011·Health Expectations : an International Journal of Public Participation in Health Care and Health Policy·Louise Moody, Kubra Choudhry
Apr 10, 2013·Molecular Genetics and Metabolism·Machtelt G BouwmanMyra C B van Zwieten
Sep 3, 2016·Journal of Community Genetics·Megan E BunnellCatherine Wicklund
Aug 1, 2014·Personalized Medicine·Stuart G NichollsJune C Carroll
Oct 26, 2021·Frontiers in Pediatrics·Tessa van DijkLidewij Henneman

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