TY - JOUR
T1 - Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting
T2 - An international cross-sectional study with healthcare professionals
AU - Lewis, Celine
AU - Hammond, Jennifer
AU - Klapwijk, Jasmijn E.
AU - Harding, Eleanor
AU - Lou, Stina
AU - Vogel, Ida
AU - Szepe, Emma J.
AU - Hui, Lisa
AU - Ingvoldstad-Malmgren, Charlotta
AU - Soller, Maria J.
AU - Ormond, Kelly E.
AU - Choolani, Mahesh
AU - Hill, Melissa
AU - Riedijk, Sam
N1 - Funding Information: This work was supported by a Wellcome Trust Small Grant in Humanities and Social Science [211288/Z/18/Z]. C. L. is funded by an NIHR Advanced Fellowship: NIHR300099. I. V. and S. L. are funded by a grant from the Novo Nordisk Foundation no: NNF16OC0018772. L. H. was funded by an Australian National Health and Medical Research Early Career Fellowship and a Medicine, Dentistry and Health Sciences Faculty Research Fellowship from the University of Melbourne. M. H. is partially funded by the NIHR Biomedical Research Centre at Great Ormond Street Hospital. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the Wellcome Trust, the NHS, the NIHR, or the UK Department of Health. The authors would like to thank all the health professionals that took part in these interviews, without whom this work would not have been possible. Funding Information: This work was supported by a Wellcome Trust Small Grant in Humanities and Social Science [211288/Z/18/Z]. C. L. is funded by an NIHR Advanced Fellowship: NIHR300099. I. V. and S. L. are funded by a grant from the Novo Nordisk Foundation no: NNF16OC0018772. L. H. was funded by an Australian National Health and Medical Research Early Career Fellowship and a Medicine, Dentistry and Health Sciences Faculty Research Fellowship from the University of Melbourne. M. H. is partially funded by the NIHR Biomedical Research Centre at Great Ormond Street Hospital. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the author(s) and not necessarily those of the Wellcome Trust, the NHS, the NIHR, or the UK Department of Health. The authors would like to thank all the health professionals that took part in these interviews, without whom this work would not have been possible. Publisher Copyright: © 2021 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
PY - 2021/5
Y1 - 2021/5
N2 - 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, 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.
AB - 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, 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.
UR - http://www.scopus.com/inward/record.url?scp=85103371594&partnerID=8YFLogxK
U2 - https://doi.org/10.1002/pd.5932
DO - https://doi.org/10.1002/pd.5932
M3 - Article
C2 - 33724493
SN - 0197-3851
VL - 41
SP - 720
EP - 732
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 6
ER -