LAUSR

Context Patients with certain rare diseases were invited to take part and have their genome sequenced alongside their relatives with the hope of finding the diagnosis as part of the 100,000 Genomes Project (100kGP). Apart from any possible results they were also offered an option of having additional and carrier status findings. Genomic testing is being implemented into mainstream NHS therefore, it was important to find out about participants preferences for receiving this type of results so that we could improve recruitment for any future genomic study. Purpose To get an overview of recruitment to genomic testing through 100kGP. Specifically, to identify the participants preferences for obtaining additional and carrier status findings. Methods Secondary analysis of the available electronic records for participants that consented to 100kGP. Data was analysed using SPSS Statistics version 25 and Minitab 18. Findings Overall, 3284 consented for genomic testing through 100kGP. 37% (n=1221) probands and 63% (n=2063) their relatives (89% of those were unaffected). Amongst affected patients the gender ratio was but 58% males and 42% females but overall with relatives this ratio was different 46% males and 54% females. There was a good inclusion from most ethnic groups (table 1). Median proband age 8 (0–21)/Median parental 38 (18–66). Significant proportion (86%) of those that took part chose to receive the ‘additional’ and ‘carrier status’ findings and their choice was not found to be affected by ethnic background or age.Abstract G256(P) Table 1 Ethnicity breakdown Count (%) White 2154 (66) Asian 750 (23) Black 136 (4) Mixed 88 (3) Other 111(3) Not stated 45(1) Conclusion This study confirms the high interest in genomic testing amongst families affected with rare disease and the need of including the option for ‘additional’ and ‘carrier status’ findings in genomic testing. This knowledge is important because genomics testing is a necessary tool for rare disease diagnosis and evaluation. This study found that all ethnic groups were interested and well represented including minorities which is an important finding to be shared with other organisations