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Pharmacogenetic guided drug therapy - how to deal with phenoconversion in polypharmacy.
Expert Opin Drug Metab Toxicol
January 2025
Institute of Psychology, University of Innsbruck, Innsbruck, Austria.
Introduction: The prevalence of polypharmacy and the increasing availability of pharmacogenetic information in clinical practice have raised the prospect of data-driven clinical decision-making when addressing the issues of drug-drug interactions and genetic polymorphisms in metabolizing enzymes. Inhibition of metabolizing enzymes in drug interactions can lead to genotype-phenotype discrepancies (phenoconversion) that reduce the relevance of individual pharmacogenetic information.
Areas Covered: The aim of this review is to provide an overview of existing models of phenoconversion, and we discuss how phenoconversion models may be developed to estimate joint drug-interactions and genetic effects.
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.
Clin Chem
January 2025
Division of Maternal-Fetal-Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, United States.
Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.
Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.
Chimerism detected in a healthy woman with an ABO genotype-phenotype discrepancy.
Pathology
November 2024
Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Blood Transfusion Department, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:
Recurrent Xp22.31-Yq11 Unbalanced Translocations: Molecular Diagnosis and Clinical Implications in Three Families.
Am J Med Genet A
October 2024
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Unbalanced translocation between chromosomes X and Y is a recurring chromosomal rearrangement. The presence of a derivative chromosome X (derX), where a Yq11-qter segment is attached to the short arm of chromosome X, replacing a terminal Xpter-p22.31, poses challenges for interpretation of findings by prenatal cell-free DNA (cfDNA) screening, establishing genotype-phenotype correlation in male and female individuals, and for genetic counseling.
View Article and Find Full Text PDFComplex Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
Neurol Genet
August 2024
From the Medicine Genetics Group (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Vall d'Hebron Research Institute (VHIR); Department of Clinical and Molecular Genetics (M.C.-R., L.B.-P., M.C.-S., J.L.-C., E.F.T.), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Neuromuscular Unit (L.G., M.G.-G.D.B., R.G.-U., P.S.-V., S.D., S.Q.-R.), Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches; and Laboratoire END-ICAP - UMR 1179 (INSERM/UVSQ) (S.Q.-R.), Equipe 1 Biothérapies des maladies neuromusculaires, Montigny-Le-Bretonneux, France.
Article Synopsis
- - Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene, and its severity is often related to the number of copies of a related gene, SMN2, but discrepancies between the two exist.
- - In a study with 31 SMA patients, researchers found hybrid genes in about 45% of them, identifying 25 hybrid alleles with varying structures, some not detected by standard methods.
- - Despite expectations that hybrid genes might indicate milder symptoms, the study did not find a consistent link, highlighting the complexity of hybrid structures and the need for further individualized research.
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