Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

DOI

  • Celine Lewis, UCL Great Ormond Street Institute of Child Health
  • ,
  • Jennifer Hammond, Department of Child and Adolescent Mental Health, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1JH, U
  • ,
  • Jasmijn E Klapwijk, Department of Clinical Genetics and Department of Human Genetics Leiden University Medical Centre, Leiden, The Netherlands.
  • ,
  • Eleanor Harding, The UCL Great Ormond Street Institute of Child Health
  • ,
  • Stina Lou
  • Ida Vogel
  • Emma Jane Szepe, Murdoch Children's Research Institute
  • ,
  • Lisa Hui, Department of Neurology, Royal Melbourne Hospital, Melbourne, Australia2Department of Medicine, University of Melbourne, Melbourne, Australia29Department of Neurology, Box Hill Hospital, Monash University, Melbourne, Australia.
  • ,
  • Charlotta Ingvoldstad-Malmgren, Karolinska Univ Hosp, Karolinska University Hospital, Karolinska Institutet, Dept Neurosurg
  • ,
  • Maria Johansson Soller, Karolinska Univ Hosp, Karolinska University Hospital, Karolinska Institutet, Dept Neurosurg
  • ,
  • Kelly E Ormond, Stanford University School of Medicine
  • ,
  • Mahesh Choolani, National University Hospital Reykjavik
  • ,
  • Melissa Hill, Department of Child and Adolescent Mental Health, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1JH, U
  • ,
  • Sam Riedijk, Department of Clinical Genetics and Department of Human Genetics Leiden University Medical Centre, Leiden, The Netherlands.

OBJECTIVES: To conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES).

METHODS: Semi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management.

RESULTS: There was variation in reporting practices both between and across countries for variants of uncertain significance (VUS), however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines.

CONCLUSION: Health professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalPrenatal Diagnosis
ISSN0197-3851
DOIs
Publication statusE-pub ahead of print - 16 Mar 2021
Externally publishedYes

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