Personalized medicine is the tailoring of the diagnosis, prevention, and treatment to the characteristics of each individual patient. In this review, we provide a status report on genetic variants that influence therapy with antiplatelet agents, warfarin, and statins. Resistance to clopidogrel, an antiplatelet therapy, has been shown to be present in 25% to 30% of Caucasians and an even higher percentage in Asians. Part of this resistance is because of the CYP2C19*2 allele. Administering clopidogrel on the basis of previous genetic testing remains controversial. A recent breakthrough in point-of-care genetic testing for clopidogrel might be significant, not only for genetic testing for clopidogrel, but for the whole of personalized medicine. Genetic testing for aspirin resistance is not yet recommended because of incomplete genetic data. Studies to determine the value of genetic testing before the administration of warfarin are ongoing. Testing for SLCO1B1 allele for individuals with muscle cramps who are taking statins could be very helpful but is not yet recommended as routine. Pharmacogenetics has the potential to customize therapy and move away from the current model of 1 drug fits all.
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http://dx.doi.org/10.1016/j.cjca.2012.08.020 | DOI Listing |
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFEur J Hum Genet
January 2025
CENTOGENE GmbH, Rostock, Germany.
We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing variants had been reported, were selected for RNA-sequencing (RNA-seq), considering the gene expression in blood. A protocol was developed to perform RNA extraction and sequencing using the same sample (dried blood spots, DBS) provided for the DNA analysis, including library preparation and bioinformatic pipeline analysis.
View Article and Find Full Text PDFSci Rep
January 2025
Instituto de Ingeniería Energética, Universitat Politècnica de València, Valencia, Spain.
Reliable prediction of photovoltaic power generation is key to the efficient management of energy systems in response to the inherent uncertainty of renewable energy sources. Despite advances in weather forecasting, photovoltaic power prediction accuracy remains a challenge. This study presents a novel approach that combines genetic algorithms and dynamic neural network structure refinement to optimize photovoltaic prediction.
View Article and Find Full Text PDFIntroduction: The most frequent form of diabetes in pediatric patients is polygenic autoimmune diabetes (T1D), but single-gene variants responsible for autoimmune diabetes have also been described. Both disorders share clinical features, which can lead to monogenic forms being misdiagnosed as T1D. However, correct diagnosis is crucial for therapeutic choice, prognosis and genetic counseling.
View Article and Find Full Text PDFAnn Fam Med
January 2025
The Warren Alpert Medical School of Brown University, Providence, Rhode Island.
Purpose: Adoption has lifelong health implications for 7.8 million adopted people and their families in the United States. The majority of adoptees have limited family medical history (LFMH).
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