2016
DOI: 10.1002/ajmg.a.37513
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Generating a taxonomy for genetic conditions relevant to reproductive planning

Abstract: As genome or exome sequencing (hereafter genome-scale sequencing) becomes more integrated into standard care, carrier testing is an important possible application. Carrier testing using genome-scale sequencing can identify a large number of conditions, but choosing which conditions/genes to evaluate as well as which results to disclose can be complicated. Carrier testing generally occurs in the context of reproductive decision-making and involves patient values in a way that other types of genetic testing may … Show more

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Cited by 31 publications
(34 citation statements)
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“…Will positive and negative results be conveyed in the same way and/or by the same type of provider? effects on life span, cognitive functioning, health system interactions, intensity of symptoms, variability of presentation, and age of onset (Korngiebel et al, 2016). Individuals' interpretation of these features may be influenced by personal experience, and families and researchers may view them differently.…”
Section: Results Disclosure Processmentioning
confidence: 99%
See 1 more Smart Citation
“…Will positive and negative results be conveyed in the same way and/or by the same type of provider? effects on life span, cognitive functioning, health system interactions, intensity of symptoms, variability of presentation, and age of onset (Korngiebel et al, 2016). Individuals' interpretation of these features may be influenced by personal experience, and families and researchers may view them differently.…”
Section: Results Disclosure Processmentioning
confidence: 99%
“…Seriousness appears to be related to motivations for receiving carrier results, although different individuals will have varying views about what should be considered serious (Schneider et al., ). Seriousness can be defined in a range of ways, including categorical features such as effects on life span, cognitive functioning, health system interactions, intensity of symptoms, variability of presentation, and age of onset (Korngiebel et al., ). Individuals’ interpretation of these features may be influenced by personal experience, and families and researchers may view them differently.…”
Section: Discussionmentioning
confidence: 99%
“…Despite its significance, however, the notion of “seriousness” remains a nebulous and poorly defined concept, in relation to both whole genome and exome sequencing (Korngiebel et al, ; Nuffield Council on Bioethics ; Sapp et al, ), but also genomic screening (Lazarin et al, ; Leo et al, ; Molster et al, ), with calls for more systematic guidelines on the classification of different genetic disorders along this dimension (Ceyhan‐Bisroy et al, ; Crouch, ).…”
Section: Discussionmentioning
confidence: 99%
“…This area of categorization addresses the diversity of gene penetrance and expressivity and includes IFs that relate to predispositions rather than certain genetic disease (e.g., Berg et al, ; Boycott et al, 2015; Klitzman et al, ; Leitsalu et al, ; Wolf et al, ) The impact, severity, and treatability of the associated genetic disease(s) . This dimension of IFs appears most commonly across the taxonomies and determines the management of the IF based on the likelihood of symptoms, the age at which they will occur, their severity, as well as the degree to which the condition can be prevented or ameliorated through an intervention such as treatment or surveillance (e.g., Bennette, Gallego, Burke, Jarvik, & Veenstra, ; Hens et al, ; Himes et al, ; Knoppers, Deschênes, Zawati, & Tassé, ; Korngiebel et al, ; Mayer et al, ; Netzer, Klein, Kohlhase, & Kubisch, ; Sénécal et al, ; Van El et al, ). The relevance of the IF beyond the index case . This area of categorization incorporates the rights and interests of biologically related kin to the patient, including IFs that may impact the health of existing relatives, or decisions around childbearing, for example, carrier status (e.g., Klitzman et al, ; Netzer et al, ).…”
Section: Introductionmentioning
confidence: 99%
“…4,5 Operational definitions for these categories are briefly summarized in Table 2. Evidence about each gene-condition pair was summarized by an RORC member, who provided a preliminary assignment.…”
Section: Methodsmentioning
confidence: 99%