Related Experiment Video
Updated: May 20, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Genetic prediction of common diseases. Still no help for the clinical diabetologist!
S Prudente1, B Dallapiccola, F Pellegrini
1IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy.
Abstract:
Genome-wide association studies (GWAS) have identified several loci associated with many common, multifactorial diseases which have been recently used to market genetic testing directly to the consumers. We here addressed the clinical utility of such GWAS-derived genetic information in predicting type 2 diabetes mellitus (T2DM) and coronary artery disease (CAD) in diabetic patients. In addition, the development of new statistical approaches, novel technologies of genome sequencing and ethical, legal and social aspects related to genetic testing have been also addressed. Available data clearly show that, similarly to what reported for most common diseases, genetic testing offered today by commercial companies cannot be used as predicting tools for T2DM and CAD. Further studies taking into account the complex interaction between genes as well as between genetic and non-genetic factors, including age, obesity and glycemic control which seem to modify genetic effects on the risk of T2DM and CAD, might mitigate such negative conclusions. Also, addressing the role of relatively rare variants by next generation sequencing may help identify novel and strong genetic markers with an important role in genetic prediction. Finally, statistical tools concentrated on reclassifying patients might be a useful application of genetic information for predicting many common diseases. By now, prediction of such diseases, including those of interest for the clinical diabetologist, have to be pursued by using traditional clinical markers which perform well and are not costly.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Sensitivity, Specificity, and Predicted Value
Sensitivity is the...
Pharmacogenetics and Pharmacogenomics: Overview
Incomplete Dominance

