果冻影院

Genome sequencing (GS) is to聽become part of the NHS England's commissioned for rare disease and cancer, facilitating systematic access to genomic testing across the country. This聽systematic application of genomic technologies enables聽a quicker diagnosis for patients with a rare disease, rather than years of uncertainty, often referred to in rare disease as the 鈥榙iagnostic odyssey鈥� as well as聽the identification of聽the most effective medications and interventions.

More specifcally, GS has been shown to improve diagnostic yield in comparison to聽targeted gene sequencing in the paediatric setting as the reported diagnostic yield in previously unsolved paediatric cases is already around 40% and will likely continue to increase as knowledge grows. This offers an end to the 鈥渄iagnostic odyssey鈥� for many children (and their parents) with rare diseases. Other benefits include enabling targeted therapy , reproductive planning and opportunities to make contact with other families whose children have similar conditions.

A key challenge in implementing GS in clinical practice is how to counsel patients so that they can make an informed choice, defined as a decision 鈥渢hat is based on relevant knowledge, consistent with the decision-maker's values and behaviourally implemented鈥�. Previously, no knowledge measure existed that is specifically aimed at young people who may be involved in decision-making about GS. Given that they make up a significant proportion of patients who are likely to benefit from GS, measures to evaluate their understanding of the technology (purpose, benefits, limitations, etc.) are important. The group, which includes IHI's ,聽therefore built on their earlier work on the knowledge of GS (KOGS) measure, to develop a new measure called the kids-KOGS, to address this unmet need.

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The paper鈥檚 full citation is: Lewis C, Loe BS, Sidey-Gibbons C,Patch C, Chitty LS, Sanderson SC. Development of a measureof genome sequencing knowledge for young people: The kids-KOGS.Clin Genet. 2019;1鈥�7. AL.7