From the patient to the population: use of genomics for population screening

Mighton, Chloe, Shickh, Salma, Aguda, Vernie, Krishnapillai, Suvetha, Adi-Wauran, Ella and Bombard, Yvonne 2022. From the patient to the population: use of genomics for population screening. Frontiers in Genetics 13 , 893832. 10.3389/fgene.2022.893832

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Abstract

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Additional Information:	License information from Publisher: LICENSE 1: URL: http://creativecommons.org/licenses/by/4.0/
Publisher:	Frontiers Media
Date of First Compliant Deposit:	8 November 2022
Date of Acceptance:	26 September 2022
Last Modified:	14 May 2023 14:00
URI:	https://orca.cardiff.ac.uk/id/eprint/154046

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