@article{bd4ac7b55dd14837b07055f844a7403c,
title = "Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results",
abstract = "The interpretation of genetic testing results is subject to error. This observational study illustrates examples of pitfalls and challenges in interpretation of genetic testing results as reported by genetics professionals. We surveyed genetics professionals to describe interpretation challenges, the types of variants that were involved, and the reported clinical impact of misconception of a test result. Case studies were then collected from a select group to further explore potential causes of misunderstanding. A total of 83% of survey respondents were aware of at least one instance of genetic test misinterpretation. Both professionals with and without formal training in genetics were challenged by test reports, and variants of unknown significance were most frequently involved. Case submissions revealed that interpretation pitfalls extend beyond variant classification analyses. Inferred challenges in case submissions include lack of genetic counseling, unclear wording of reports, and suboptimal communication among providers. Respondents and case submitters noted that incorrect interpretation can trigger unnecessary follow-up tests and improperly alter clinical management. Further research is needed to validate and quantify large-scale data regarding challenges of genetic results interpretation.",
keywords = "genetic counseling, genetic results, medical error, medical genetics, misinterpretation",
author = "Donohue, {Katherine E.} and Catherine Gooch and Alexander Katz and Jessica Wakelee and Anne Slavotinek and Korf, {Bruce R.}",
note = "Funding Information: The authors would like to thank the following members of the CSER Consortium who provided feedback on this manuscript: Kelly East, MS, CGC (HudsonAlpha Institute for Biotechnology); Laura G Hendon, MA, MS, CGC (University of Mississippi Medical Center); Katie Gallagher, MS, CGC (Montefiore Medical Center). The Clinical Sequencing Evidence-Generating Research (CSER) consortium is funded by the National Human Genome Research Institute (NHGRI) with co-funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI), supported by U01HG007301(BRK), U01HG009599 (AS), U01HG009610 (KED), and U24HG007307 (Coordinating Center). The contents of this paper are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The CSER consortium thanks the staff and participants of all CSER studies for their important contributions. More information about CSER can be found at https://cser-consortium.org/. Funding Information: The authors would like to thank the following members of the CSER Consortium who provided feedback on this manuscript: Kelly East, MS, CGC (HudsonAlpha Institute for Biotechnology); Laura G Hendon, MA, MS, CGC (University of Mississippi Medical Center); Katie Gallagher, MS, CGC (Montefiore Medical Center). The Clinical Sequencing Evidence‐Generating Research (CSER) consortium is funded by the National Human Genome Research Institute (NHGRI) with co‐funding from the National Institute on Minority Health and Health Disparities (NIMHD) and the National Cancer Institute (NCI), supported by U01HG007301(BRK), U01HG009599 (AS), U01HG009610 (KED), and U24HG007307 (Coordinating Center). The contents of this paper are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The CSER consortium thanks the staff and participants of all CSER studies for their important contributions. More information about CSER can be found at https://cser‐consortium.org/ . Publisher Copyright: {\textcopyright} 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd",
year = "2021",
month = may,
doi = "10.1111/cge.13917",
language = "English",
volume = "99",
pages = "638--649",
journal = "Clinical Genetics",
issn = "0009-9163",
number = "5",
}