Open AccessFrequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review
Author(s) -
Amal Elfatih,
Idris Mohammed,
Doua Abdelrahman,
Borbála Mifsud
Publication year - 2021
Publication title -
physiological genomics/physiological genomics (print)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.078
H-Index - 112
eISSN - 1531-2267
pISSN - 1094-8341
DOI - 10.1152/physiolgenomics.00025.2021
Subject(s) - exome sequencing , exome , genomics , biology , whole genome sequencing , personal genomics , medical genetics , computational biology , genetic testing , genome , genetics , mutation , gene
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.