Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

Abstract

Purpose and scope: The aim of this position statement is to provide recommendations regarding the delivery of genomic testing to patients with rare disease in the UK and Ireland. The statement has been developed to facilitate timely and equitable access to genomic testing with reporting of results within commissioned turnaround times.

Methods of statement development: A 1-day workshop was convened by the UK Association for Clinical Genomic Science and attended by key stakeholders within the NHS Genomic Medicine Service, including clinical scientists, clinical geneticists and patient support group representatives. The aim was to identify best practice and innovations for streamlined, geographically consistent services delivering timely results. Attendees and senior responsible officers for genomic testing services in the UK nations and Ireland were invited to contribute.

Results and conclusions: We identified eight fundamental requirements and describe these together with key enablers in the form of specific recommendations. These relate to laboratory practice (proportionate variant analysis, bioinformatics pipelines, multidisciplinary team working model and test request monitoring), compliance with national guidance (variant classification, incidental findings, reporting and reanalysis), service development and improvement (multimodal testing and innovation through research, informed by patient experience), service demand, capacity management, workforce (recruitment, retention and development), and education and training for service users. This position statement was developed to provide best practice guidance for the specialist genomics workforce within the UK and Ireland but is relevant to any publicly funded healthcare system seeking to deliver timely rare disease genomic testing in the context of high demand and limited resources.

Keywords: Genetic Testing; Genetics; Genomics.

Figure 1. Key requirements and enablers for timely genomic testing. Numerical superscripts refer to the recommendations described in table 1. *Testing service is defined (eg, by a test directory) and delivered in a UKAS-accredited laboratory working to the ISO 15189 standard. MDT, multidisciplinary team.

Figure 2. Multidisciplinary team (MDT) working model for rare disease genomic medicine. The different types of MDT meetings and ways of working are separated in order to deliver timely, high-quality genomic test results. (A) Education and training initiatives for service users, together with the availability of up-to-date information about genomic testing, mean that patient management MDTs for pre–post testing discussions relating to individual patients or families should not usually require clinical scientist attendance. It is more efficient for patient testing queries to be emailed to the laboratory, providing an audit trail of information that the laboratory can store electronically ahead of receiving samples for testing. (B) Variant interpretation decision-making MDTs usually include the clinical scientist responsible for analysis and interpretation of the patient’s test data and the clinician who requested the test. A clinical geneticist may also be involved when appropriate. The MDT case discussion may take place via telephone or videoconferencing but is typically conducted by email. The use of email is advantageous because it does not delay decisions and hence reporting of results from complex cases through the need to find a meeting time convenient for all participants. It enables expert input (including those working in different time zones) and contributions from multiple clinical specialties, and allows time for the clinical scientist (and other participants) to seek additional information or advice from colleagues in response to the case discussion. The emails will be stored by the laboratory as part of their case records as part of the clinical governance process to document the decision-making process. (C) Education and training case-based MDTs are organised for groups of healthcare professionals (eg, by clinical specialty or for clinical users of a specific genomic testing service) across the geography served by the laboratory (or Genomic Laboratory Hubs). Cases are presented by the clinical teams with the genomic testing results explained by the clinical scientists. Key learning points are included and there are ample opportunities for questions via the chat function or orally. These MDTs also provide an opportunity for service updates. (D) Bespoke specialty events (in person or via videoconferencing) provide opportunities for focused education and additional support for clinical teams using genomic tests for rare disease.