Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

In the originally published version of this article, Table 1 unfortunately included c.542G>A instead of c.542G>T. This mutation was correctly notated as c.

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Funding information NHS England Chief Scientific Office Accessible summary• People with learning disabilities, like everyone else, need to have their health checked, but this can sometimes be difficult.• We asked people with learning disabilities and the people who look after them what they thought about how they have blood tests done or their hearing checked.• We found out the things that make it a positive experience.• We learnt that people with learning disabilities and the people who look after them thought point-of-care testing would be a good idea.• We learnt what things they thought should be put in place to make this type of testing work well for them. AbstractBackground: People with learning disabilities have an increased risk of diabetes, cardiovascular disease and hearing loss. This study explored service users' and health professionals' perspectives and experiences of adopting minimally invasive diagnostic and screening devices, known as point-of-care testing (POCT) as a means of improving access and engagement. Materials and Methods:Focus groups and semi-structured interviews were undertaken with attendees at a nonhealthcare day centre, specialist learning disability clinical network and national leads as well as researchers into learning disability and point-of-care issues. Thematic analysis of the data was undertaken.Results: There was a lack of awareness and experience of POCT across the users and health professionals. Despite this, on seeing the devices and discussing application there was strong support and acceptability across all participants for their use so long as individual needs were addressed. There was no consistent sense of where this testing should be done but support for the flexibility this could provide in terms of nonmedicalised locations and individual needs. Strategies for success included the use of specific adjustments such as the presence of a known carer, pretesting information in an appropriate format and taking into account each individual's preferences. Conclusions:POCT is considered a viable and useful method for improving access to testing for people with learning disabilities. Adoption barriers in implementation identified as specific to the field of learning disabilities included lack of POCT | 29 GILES Et aL. | CON CLUS IONThis evaluation has taken the first steps to explore the feasibility and acceptability of point-of-care testing for people with learning disabilities. Point-of-care testing was described as having the potential to enable access to a range of diagnostics for people with a learning disability; however, this needs to be with some adjustments. It has the potential to widen this access through both the uptake and ability to perform screening as well as increasing flexibility in where these could be undertaken.The findings raise questions and opportunities about how and where POCT could be used. Whilst the context of this study was about health checks and access to health assessments, our findings provide information that could be used to further explore...