The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

A new interesting article has been published in J Community Genet. 2019 Jul;10(3):425-434. doi: 10.1007/s12687-019-00406-x. Epub 2019 Jan 24. and titled:

The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.

Authors of this article are:

McVeigh E, Jones H, Black G, Hall G.

A summary of the article is shown below:

Next-generation sequencing (NGS) provides diagnostic information for many rare conditions. The evolution of NGS for panel, exome, and genome testing is set to be the platform for transforming genomic diagnosis in the National Health Service (NHS). Inherited retinal dystrophies (IRDs) are a highly genetically heterogeneous disease group causing progressive visual impairment. IRDs are ideal for an NGS panel approach due to phenotypic overlap and were one of the first diagnostic panels to be developed in the NHS. While diagnostic yield for patients with IRD has improved significantly with NGS, a proportion of patients remain without a diagnosis. The clinical value of NGS testing is well understood; however, the patient experience of panel testing is not well documented. Semi-structured qualitative telephone interviews were conducted with 23 participants with IRD who had undergone NGS testing. Interviews were transcribed verbatim and analysed using interpretative phenomenological analysis. Participants’ experiences were interpreted to explore the psychosocial and service delivery impact of this testing technology, inclusive of those who received a pathogenic, negative, carrier status or variant of uncertain significance result. Collectively, three core themes were identified: (1) the journey towards a genomic diagnosis, (2) the impact of NGS testing, (3) service delivery of NGS tests. Disclosure of results had no reported adverse implications. Participants appreciated an open discussion about the potential for an uncertain or unexpected result, prior to testing. They valued pre-test counselling discussions, expert opinions and on-going care from genomic services.

Check out the article’s website on Pubmed for more information:



This article is a good source of information and a good way to become familiar with topics such as: Genomic testing;Incidental findings;Inherited retinal dystrophy;Next-generation sequencing;Variant of uncertain significance.

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