2015), which ultimately limits the predictability of the trait based on genome analysis alone. Firstly, the role of the environment in disease expression is usually significant, decreasing the contribution of the genome typically to around 50% (Polderman et al. Complexity in such genetic traits with intricate inheritance is twofold.
Examples of such diseases are coronary artery disease, type 2 diabetes, and cancer.
disease with Mendelian inheritance, it is not clear to what extent genomic medicine is being successful regarding disease with complex inheritance. While many successful examples of genomic medicine involve implementation of programs to identify and manage monogenic disease, i.e. Genomic medicine is defined by the National Human Genome Research Institute as a rapidly growing field involving the application of genomic information in clinical care (NHGRI website 2021). a SNP genotype or DNA sequence, to inform care. Genomic medicine aims to improve health using an individual’s genomic information, e.g. We conclude that while the routine use of PRSs hold great promise, translational research is still needed before they should enter mainstream clinical practice. While we identified studies demonstrating clinical validity in conditions where medical intervention based on a PRS is likely to benefit patient outcome, we did not identify a single study demonstrating unequivocally such a benefit, i.e. We systematically reviewed the PubMed database for unequivocal evidence of clinical utility of polygenic risk scores, using stringent inclusion and exclusion criteria. Polygenic risk scores (PRS) are subsets of individual genotypes designed to capture heritability of common traits, and hence to allow the stratification of risk of the trait in a population. While clinical utility of genomic medicine in many monogenic, Mendelian disorders is amply demonstrated, clinical utility is less evident in polygenic traits, e.g., coronary artery disease or breast cancer.
Genomic medicine aims to improve health using the individual genomic data of people to inform care.
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