Ankle brachial index (ABI) is a simple method to screen peripheral arterial disease (PAD) and to evaluate cardiovascular (CV) prognosis in the general population. Measuring it requires a hand-held Doppler probe but it can be done also with an automatic device. ABI is an effective tool for clinical practice or clinical studies. However, in diabetic patients, it has some specific caveats. Sensitivity of the standard threshold of 0.9 appears to be lower in diabetic patients with complications. Moreover, highly frequent arterial medial calcifications in diabetes increase ABI. It has been demonstrated that measurements >1.3 are well correlated with both an increased prevalence of PAD and CV risk. Therefore, ABI thresholds of less than 0.9 and more than 1.3 are highly suspicious for PAD and high CV risk in diabetic patients. However, when there is concomitant clinical peripheral neuropathy or high risk of arterial calcification, the efficiency of ABI seems to be limited. In this case, other methods should be applied, toe pressure, in particular. Thus, the ABI could be used in patients with diabetes, but values should be interpreted with precision, according to the clinical situation.
Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis.
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