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Chapter 56 - Genetics and Gynaecological Disease

from Section 11 - Public Health Issues in Gynaecology

Published online by Cambridge University Press:  24 November 2021

By
Isabella Borg  and
Nikolai Paul Pace
Edited by
Tahir Mahmood ,
Charles Savona-Ventura ,
Ioannis Messinis  and
Sambit Mukhopadhyay
Tahir Mahmood
Affiliation:
Victoria Hospital, Kirkcaldy
Charles Savona-Ventura
Affiliation:
University of Malta, Malta
Ioannis Messinis
Affiliation:
University of Thessaly, Greece
Sambit Mukhopadhyay
Affiliation:
Norfolk & Norwich University Hospital, UK
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Summary

The large number of gene–disease associations that have been discovered through the use of high-throughput genomics have revolutionized our understanding of complex disease biology. Genomics holds ample scope from the clinical perspective, particularly with regards to disease risk prediction, improving disease classification, risk stratification and drug selection. Elucidating the functional impact of genomic variants is a critical challenge that should further facilitate the ‘bench to bedside’ translation. Additionally, healthcare systems need to acknowledge the necessity of updating and adapting current practices to ensure direct and cost-effective translation of modern genomics to the clinic.

Keywords

endometriosisuterine leiomyomaspolycystic ovary syndromebreast cancerovarian cancerLynch syndromegenome-wide association scanscandidate gene studies
Type
Chapter
Information
The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology
Gynaecology
 , pp. 483 - 490
Publisher: Cambridge University Press
Print publication year: 2021

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