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Comprehensive Study Of Uptake In Genomic Testing

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This is the first known comprehensive study of uptake in genomic testing through 100kGP offering patients, relatives and clinicians perspective. Findings from this study complement existing knowledge and the identified reasons for and against taking part in genomic testing found in this study agree with previous genetics research literature. However, what is important it offers a novel perspective of good recruitment uptake including minority ethnic groups especially those from Asian ethic background. Good representation from most ethnic groups is thought to be achieved at this centre by effective recruitment strategy, 100kGP logistics and face-to-face approach focused around patient’s hospital appointment. These elements are important and should be shared with other organisations wishing to increase inclusion from minority ethnic groups in genomics studies.

Better understanding of barriers and drivers in genomics recruitment is critical as large numbers of samples are required from various ethnic groups. This is necessary for results validation as these might differ amongst various populations. Moreover, the summary of findings gives an insight into 100kGP participants’ characteristics associated with willingness to participate or to decline genomic testing and mothers being an important decision makers for their children regardless of their age or ethnicity. Moreover, the result outcomes for the preferences on broad genomic consent in this study highlighted the need for including the option of receiving these type of results. As they were favoured by most of participants and are very relevant in the field of genomic medicine. This study’s findings helped to identify specific reasons for and against genomic testing amongst families affected by rare disease. This cohort’s perspective is very important because genomics medicine enters mainstream NHS and will be used for rare disease diagnostics.

Considering different preferences identified in this study and addressing them may help with better inclusion of participants form various ethnic backgrounds in the future. More work should be done especially for those from Black ethic background as recruitment levels were lower in this groups. At the same time it is vital to remember to approach all potential participants with respect and provide them with opportunity to decline participation in accordance with international standards and regulation. Furthermore, this study also introduced the clinician’s perspective and the main reason for not referring patients for genomic testing through 100kGP. Since eligibility criteria were found to be poorly understood by many it is vital to effectively communicate this aspect to the relevant clinicians for any future genomic study as their engagement is the key for genomics testing delivery. Moreover, tailored genomics educational programmes are required to prepare doctors to utilise the breadth of what genomics medicine service has to offer. Thus, findings from this project can help in recruitment and design of future genomic research studies.

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