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Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres

Marlies Saelaert (UGent) , Heidi Mertes (UGent) , Tania Moerenhout (UGent) , Elfride De Baere (UGent) and Ignaas Devisch (UGent)
Author
Organization
Abstract
Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings. Discussion points include the practice of unintentionally identified IFs versus deliberately pursued SFs, patient opt-out possibilities and the spectrum of reportable findings. The heterogeneity of advice permits a non-standardised disclosure but research is lacking on actual reporting practices. Therefore, this study assessed national reporting practices for IFs and SFs in clinical ES and the underlying professional perspectives. Methods: A qualitative focus group study has been undertaken, including professionals from Belgian centres for medical genetics (CMGs). Data were analysed thematically. Results: All Belgian CMGs participated in this study. Data analysis resulted in six main themes, including one regarding the reporting criteria used for IFs. All CMGs currently use ES-based panel testing. They have limited experience with IFs in clinical ES and are cautious about the pursuit of SFs. Two main reporting criteria for IFs were referred to by all CMGs: the clinical significance of the IF (including pathogenicity and medical actionability) and patient-related factors (including the patient's preference to know and patient characteristics). The consensus over the importance of these criteria contrasted with their challenging interpretation and application. Points of concern included IFs' pathogenicity in non-symptomatic persons, IFs concerning variants of uncertain significance, the requirement and definition of medical actionability and patient opt-out possibilities. Finally, reporting decisions were guided by the interaction between the clinical significance of the IF and patient characteristics. This interaction questions the possible disclosure of findings with context-dependent and personal utility, such as IFs concerning a carrier status. To evaluate the IF's final relevance, a professional and case-by-case deliberation was considered essential. Conclusions: The challenging application of reporting criteria for IFs results in diversified practices and policy perspectives within Belgian CMGs. This echoes international concerns and may have consequences for effective policy recommendations.
Keywords
Incidental findings, Secondary findings, Clinical exome sequencing, Disclosure, Professional practice, Focus groups, Qualitative research, ACMG RECOMMENDATIONS, SECONDARY FINDINGS, PERSONAL UTILITY, TECHNOLOGIES PERSPECTIVES, QUALITATIVE RESEARCH, MEDICAL GENETICS, AMERICAN-COLLEGE, WHOLE-GENOME, RETURN, VIEWS

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MLA
Saelaert, Marlies, et al. “Criteria for Reporting Incidental Findings in Clinical Exome Sequencing : A Focus Group Study on Professional Practices and Perspectives in Belgian Genetic Centres.” BMC MEDICAL GENOMICS, vol. 12, no. 1, 2019.
APA
Saelaert, M., Mertes, H., Moerenhout, T., De Baere, E., & Devisch, I. (2019). Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres. BMC MEDICAL GENOMICS, 12(1).
Chicago author-date
Saelaert, Marlies, Heidi Mertes, Tania Moerenhout, Elfride De Baere, and Ignaas Devisch. 2019. “Criteria for Reporting Incidental Findings in Clinical Exome Sequencing : A Focus Group Study on Professional Practices and Perspectives in Belgian Genetic Centres.” BMC MEDICAL GENOMICS 12 (1).
Chicago author-date (all authors)
Saelaert, Marlies, Heidi Mertes, Tania Moerenhout, Elfride De Baere, and Ignaas Devisch. 2019. “Criteria for Reporting Incidental Findings in Clinical Exome Sequencing : A Focus Group Study on Professional Practices and Perspectives in Belgian Genetic Centres.” BMC MEDICAL GENOMICS 12 (1).
Vancouver
1.
Saelaert M, Mertes H, Moerenhout T, De Baere E, Devisch I. Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres. BMC MEDICAL GENOMICS. 2019;12(1).
IEEE
[1]
M. Saelaert, H. Mertes, T. Moerenhout, E. De Baere, and I. Devisch, “Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres,” BMC MEDICAL GENOMICS, vol. 12, no. 1, 2019.
@article{8625762,
  abstract     = {Background: Incidental and secondary findings (IFs and SFs) are subject to ongoing discussion as potential consequences of clinical exome sequencing (ES). International policy documents vary on the reporting of these findings. Discussion points include the practice of unintentionally identified IFs versus deliberately pursued SFs, patient opt-out possibilities and the spectrum of reportable findings. The heterogeneity of advice permits a non-standardised disclosure but research is lacking on actual reporting practices. Therefore, this study assessed national reporting practices for IFs and SFs in clinical ES and the underlying professional perspectives.
Methods: A qualitative focus group study has been undertaken, including professionals from Belgian centres for medical genetics (CMGs). Data were analysed thematically.
Results: All Belgian CMGs participated in this study. Data analysis resulted in six main themes, including one regarding the reporting criteria used for IFs. All CMGs currently use ES-based panel testing. They have limited experience with IFs in clinical ES and are cautious about the pursuit of SFs. Two main reporting criteria for IFs were referred to by all CMGs: the clinical significance of the IF (including pathogenicity and medical actionability) and patient-related factors (including the patient's preference to know and patient characteristics). The consensus over the importance of these criteria contrasted with their challenging interpretation and application. Points of concern included IFs' pathogenicity in non-symptomatic persons, IFs concerning variants of uncertain significance, the requirement and definition of medical actionability and patient opt-out possibilities. Finally, reporting decisions were guided by the interaction between the clinical significance of the IF and patient characteristics. This interaction questions the possible disclosure of findings with context-dependent and personal utility, such as IFs concerning a carrier status. To evaluate the IF's final relevance, a professional and case-by-case deliberation was considered essential.
Conclusions: The challenging application of reporting criteria for IFs results in diversified practices and policy perspectives within Belgian CMGs. This echoes international concerns and may have consequences for effective policy recommendations.},
  articleno    = {123},
  author       = {Saelaert, Marlies and Mertes, Heidi and Moerenhout, Tania and De Baere, Elfride and Devisch, Ignaas},
  issn         = {1755-8794},
  journal      = {BMC MEDICAL GENOMICS},
  keywords     = {Incidental findings,Secondary findings,Clinical exome sequencing,Disclosure,Professional practice,Focus groups,Qualitative research,ACMG RECOMMENDATIONS,SECONDARY FINDINGS,PERSONAL UTILITY,TECHNOLOGIES PERSPECTIVES,QUALITATIVE RESEARCH,MEDICAL GENETICS,AMERICAN-COLLEGE,WHOLE-GENOME,RETURN,VIEWS},
  language     = {eng},
  number       = {1},
  pages        = {11},
  title        = {Criteria for reporting incidental findings in clinical exome sequencing : a focus group study on professional practices and perspectives in Belgian genetic centres},
  url          = {http://dx.doi.org/10.1186/s12920-019-0561-0},
  volume       = {12},
  year         = {2019},
}

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