Publications by authors named "W A Devine"
Article Synopsis
- Prenatal exome sequencing (ES) successfully identified both fetal and maternal genetic diagnoses, revealing a shared pathogenic gamma globin variant in a fetus with unexplained anemia and a mother with sickle cell disease (SCD).
- The identified variant, HbF Mission Bay HBG2, is linked to various blood-related conditions, including cyanosis and hemolytic anemia, which generally emerge in infancy but can persist into adulthood.
- In this case, the mother's own symptoms from the variant, such as recurrent hypoxia and methemoglobinemia during pregnancy, occurred alongside the fetus's need for multiple blood transfusions and post-birth methemoglobinemia.
Background: Sudden cardiac death (SCD) genetic studies neglect the majority occurring in older decedents with cardiovascular pathology.
Objectives: This study sought to determine the burden of genetic disease in unselected adult sudden deaths by precision genotype-postmortem phenotype correlation.
Methods: The authors used autopsy, histology, and toxicology to adjudicate cause and identify high-suspicion phenotypes (eg, hypertrophic cardiomyopathy) among presumed SCDs aged 18 to 90 years referred to the county medical examiner from February 2011 to January 2018.
Objective: This article describes the implementation of preemptive clinical pharmacogenomics (PGx) testing linked to an automated clinical decision support (CDS) system delivering actionable PGx information to clinicians at the point of care at UCSF Health, a large Academic Medical Center.
Methods: A multidisciplinary team developed the strategic vision for the PGx program. Drug-gene interactions of interest were compiled, and actionable alleles identified.
Article Synopsis
- Researchers studied genetic variations in primary CNS lymphoma (PCNSL) to find markers that could predict patient outcomes and responses to treatment.
- They analyzed samples from 78 patients, finding that specific genetic changes, particularly on chromosome 6p and mutations in certain tumor suppressor genes, were linked to a high rate of disease progression and mortality.
- The findings suggest that identifying these genetic markers can help doctors assess patient risk and customize therapies, leading to better treatment strategies in PCNSL.