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Eur J Hum Genet. 2014 Aug;22(8):955-6. doi: 10.1038/ejhg.2013.301. Epub 2014 Jan 8.

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

Author information

1
Human Genetics, Wellcome Trust Sanger Institute, Cambridge, UK.
2
Department of Clinical Genetics, Guys Hospital, London, UK.
3
Cancer Genetics Department, The Royal Marsden NHS Foundation Trust, Surrey, UK.
4
Teesside Genetics Unit, James Cook University Hospital, Teeside, UK.
5
CELS (Clinical Ethics and Law at Southampton)/Wessex Clinical Genetics Service, Faculty of Medicine, Southampton General Hospital, Southampton, UK.
6
Transforming Health Evidence Group, School of Health, University of Central Lancashire, Preston, UK.
7
North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.

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.

PMID:
24398792
PMCID:
PMC4350604
DOI:
10.1038/ejhg.2013.301
[Indexed for MEDLINE]
Free PMC Article

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