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Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review

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submitted on 2024-09-11, 09:39 and posted on 2024-09-15, 10:40 authored by Amal Elfatih, Idris Mohammed, Doua Abdelrahman, Borbala Mifsud

The application of whole genome/exome sequencing technologies in clinical genetics and research has resulted in the discovery of incidental findings unrelated to the primary purpose of genetic testing. The American College of Medical Genetics and Genomics published guidelines for reporting pathogenic and likely pathogenic variants that are deemed to be medically actionable, which allowed us to learn about the epidemiology of incidental findings in different populations. However, consensus guidelines for variant reporting and classification are still lacking. We conducted a systematic literature review of incidental findings in whole genome/exome sequencing studies to obtain a comprehensive understanding of variable reporting and classification methods for variants that are deemed to be medically actionable across different populations. The review highlights the elements that demand further consideration or adjustment.

Other Information

Published in: Physiological Genomics
License: https://creativecommons.org/licenses/by/4.0/
See article on publisher's website: https://dx.doi.org/10.1152/physiolgenomics.00025.2021

Funding

Open Access funding provided by the Qatar National Library.

History

Language

  • English

Publisher

American Physiological Society

Publication Year

  • 2021

License statement

This Item is licensed under the Creative Commons Attribution 4.0 International License.

Institution affiliated with

  • Hamad Bin Khalifa University
  • College of Health and Life Sciences - HBKU
  • Sidra Medicine
  • Clinical Research Centre - Sidra Medicine

Related Publications

Amal Elfatih, Borbala Mifsud, Idris Mohammed, Doua Abdelrahman. Management of medically actionable incidental findings from the large population-based genomics data; A systematic review.. PROSPERO 2020 CRD42020210935 Available from: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42020210935

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