Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-09

AUTHORS

Martin McKibbin, Mushtaq Ahmed, Matthew J Allsop, Louise Downey, Richard Gale, Hilary Louise Grant, Barbara Potrata, Thomas A Willis, Jenny Hewison

ABSTRACT

Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations. More... »

PAGES

1058

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2013.296

DOI

http://dx.doi.org/10.1038/ejhg.2013.296

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041564207

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24398793


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