Julian Barwell

Abstract We combined deep phenotype data and whole-genome sequencing results from the UK 100,000 Genomes Project (100KGP) to characterize the genetic spectrum of infantile nystagmus and albinism, and to explore genotype–phenotype correlations in this cohort. Participants were enrolled in the study based on the clinical codes for albinism or infantile nystagmus.

], Bunnik In their recent perspective article [ et al. highlight the opportunities and challenges for clinicians as genomic testing becomes increasingly mainstreamed. Whole-exome and whole-genome sequencing is imminently becoming more available; genetic testing for germline variants are accessible for an increasing number of patients without required review in specialist genetic clinics.

Abstract The National Institute of health and Care Excellence issued guidelines on familial breast cancer screening in 2004. Such guidelines should be uniformly implemented to ensure that members of the same family with the same level of risk, but living in different areas, have the same access to screening. We assessed uptake by creating a short, six question online survey designed to assess compliance in each regional area. We used this to conduct a survey of all 22 regional genetics services.