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Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)

Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland)
The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients
1018-4813
1-2
Middleton, Anna
8cbe11b6-d21e-4a3b-b809-cedc5d78c6dd
Patch, Chris
b61facf5-2a61-423c-8c42-2482f79ff38e
Wiggins, Jennifer
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Barnes, Kathy
837e930d-3736-4063-bf6d-2bb8a57d8612
Crawford, Gill
c49ec103-2936-4897-8f25-96abe25b3a9f
Benjamin, Caroline
253b9138-ef41-456a-bf1d-2f353e56eb2d
Bruce, Anita
117ac0ce-6c72-4b34-a337-6d369ab77ebb
Middleton, Anna
8cbe11b6-d21e-4a3b-b809-cedc5d78c6dd
Patch, Chris
b61facf5-2a61-423c-8c42-2482f79ff38e
Wiggins, Jennifer
4b979ae9-20fb-421f-9373-e9dfb74e6c30
Barnes, Kathy
837e930d-3736-4063-bf6d-2bb8a57d8612
Crawford, Gill
c49ec103-2936-4897-8f25-96abe25b3a9f
Benjamin, Caroline
253b9138-ef41-456a-bf1d-2f353e56eb2d
Bruce, Anita
117ac0ce-6c72-4b34-a337-6d369ab77ebb

Middleton, Anna, Patch, Chris and Wiggins, Jennifer et al. (2014) Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland). European Journal of Human Genetics, 1-2. (doi:10.1038/ejhg.2013.301). (PMID:24398792)

Record type: Article

Abstract

The American College of Medical Genetics and Genomics released recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These suggest 'opportunistic genomic screening' should be available to both adults and children each time a sequence is done and would be undertaken without seeking preferences from the patient first. Should opportunistic genomic screening be implemented in the United Kingdom, the Association of Genetic Nurses and Counsellors (AGNC), which represents British and Irish genetic counsellors and nurses, feels strongly that the following must be considered (see article for complete list): (1) Following appropriate genetic counselling, patients should be allowed to consent to or opt out of opportunistic genomic screening. (2) If true IFs are discovered the AGNC are guided by the report from the Joint Committee on Medical Genetics about the sharing of genetic testing results. (3) Children should not be routinely tested for adult-onset conditions. (4) The formation of a list of variants should involve a representative from the AGNC as well as a patient support group. (5) The variants should be for serious or life-threatening conditions for which there are treatments or preventative strategies available. (6) There needs to be robust evidence that the benefits of opportunistic screening outweigh the potential harms. (7) The clinical validity and utility of variants should be known. (8) There must be a quality assurance framework that operates to International standards for laboratory testing. (9) Psychosocial research is urgently needed in this area to understand the impact on patients

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Published date: 8 January 2014
Organisations: Faculty of Medicine

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Local EPrints ID: 363287
URI: http://eprints.soton.ac.uk/id/eprint/363287
ISSN: 1018-4813
PURE UUID: 9e07b1cf-0a08-421b-8c8a-a67db4cc88a7

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Date deposited: 24 Mar 2014 11:25
Last modified: 16 Jul 2019 21:09

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Contributors

Author: Anna Middleton
Author: Chris Patch
Author: Jennifer Wiggins
Author: Kathy Barnes
Author: Gill Crawford
Author: Caroline Benjamin
Author: Anita Bruce

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