RE: NICE guide published29 Mar 2022 09:04
There is little published high-quality evidence assessing Genedrive MT-RNR1 ID test. Only 1 study (1 full-text article and 1 corresponding conference abstract) was included in this briefing. The 1 relevant study is a prospective cohort study that compares the accuracy of the Genedrive MT-RNR1 ID test with existing targeted gene mutation testing, Sanger. The study does not explain the rationale for using Sanger over the other gene testing techniques such as pyrosequencing. However, the author confirms that Sanger sequencing was preferentially used because it is a faster test and is the gold standard test. The Genedrive MT-RNR1 ID System was initially validated against positive and negative patient samples that had been genotyped using pyrosequencing. The only outcome compared was accuracy. Further studies on its impact on clinical practice would be useful.