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Recontacting in clinical genetics and genomic medicine? We need to talk about it

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THE PROBLEM An editorial in the AJMG,1 which accompanied the first systematic review conducted on the topic,2 suggested that advances in nextgeneration sequencing technologies and the volume of genomic information… Click to show full abstract

THE PROBLEM An editorial in the AJMG,1 which accompanied the first systematic review conducted on the topic,2 suggested that advances in nextgeneration sequencing technologies and the volume of genomic information they deliver are leading clinicians to consider recontacting former patients. Examples might be: (a) to discuss whether more sensitive testing could now provide a diagnosis or health prediction, which had not previously been possible; (b) to review the evidence for particular genetic findings playing a part in the patient’s disease; or (c) to revise the interpretation of a genetic variant previously identified. As the Otten et al.2 systematic review shows, there is a perceived need for guidance in this area. However, it is not clear whether a standard protocol or consensus guidelines are necessary, or indeed whether a duty to recontact exists at all.

Keywords: medicine; recontacting clinical; genomic medicine; genetics; genetics genomic; clinical genetics

Journal Title: European Journal of Human Genetics
Year Published: 2017

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