Devices and methods for predicting the risk of a disease or phenotype
There is an emerging trend to identify a variety of disease-associated and phenotype-related genetic single nucleotide polymorphism (SNP) markers through gene sequencing and whole genome association analysis. Various scientific studies have reported various methods to predict the risk of developing disease and non-disease phenotypes in tested individuals utilizing a number of genetic markers. Genetic testing organizations are utilizing similar methods to provide genetic risk assessment for diseases and phenotypes.
When utilizing genetic markers to predict disease and physical traits, it is important to utilize genetic markers that are appropriate for the population in question. The same genetic marker may have different or opposite effects in different populations, races, and countries. For example, the rs4331426 SNP location in the 18q11 region, which is associated with susceptibility to TB, is associated with A (adenine) allele and higher susceptibility to TB in Chinese populations, but is associated with G (guanine) allele and higher susceptibility to TB in African populations (i.e., A allele is associated with lower susceptibility to TB in African populations).
When predicting the risk of a disease or phenotype, it is important to utilize genetic markers that are meaningful in the target population and race. Predicting the risk of a disease or phenotype without using genetic markers that are meaningful in that race or population can lead to inaccurate results.
To identify genetic markers associated with disease and phenotype risk through GWAS studies and case-control studies, studies have been conducted that specify the race and population of the study subjects to eliminate racial genetic differences/traits. In addition, replication studies and meta-analyses of initially identified genetic markers have been conducted to determine if they are significantly reproduced in other races and populations to investigate their significance.
For mixed-race individuals of different ethnicities or groups, genetic markers associated with disease or phenotype have not been reported. In addition, there has been limited reporting for genetically diverse populations and countries, limiting the ability to predict disease or phenotype risk.
By utilizing genetic information from multiple populations, a user’s genetic makeup can be obtained to obtain the user’s genetic risk for a disease or phenotype. For these problems, at least one of the following methods can be used to obtain a user’s genetic makeup: admixture analysis, multidimensional scaling (MDS) analysis, genetic distance analysis, principal component analysis (PCA), and chromosome painting analysis.
When you get a user’s genetic risk for a disease or phenotype based on their genetic risk, you can more accurately predict risk for individuals of mixed race and those in genetically diverse populations.
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