Journal of Community Genetics

, Volume 10, Issue 3, pp 425–434 | Cite as

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

  • Eleanor McVeighEmail author
  • Harriet JonesEmail author
  • Graeme Black
  • Georgina Hall
Original Article


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.


Variant of uncertain significance Incidental findings Genomic testing Inherited retinal dystrophy Next-generation sequencing 



Fight for Sight grant ref. 1801 Improving Healthcare Provision for Patients with Inherited Retinal Diseases: An Evidence Based Approach. NHS NW 2 Research Ethics Committee (ref 10/H1005/48).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients before being included in the study.

Supplementary material

12687_2019_406_MOESM1_ESM.docx (25 kb)
ESM 1 (DOCX 24 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Clinical Genetics ServiceBirmingham Women’s and Children’s NHS Foundation Trust, Birmingham Women’s HospitalBirminghamUK
  2. 2.Genetics Health Service, Northern HubAuckland City HospitalAuklandNew Zealand
  3. 3.Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation TrustSt Mary’s HospitalManchesterUK

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