Department of Biostatistics and Epidemiology, Graduate School of Public Health, Medical Sciences Campus, University of Puerto Rico, PO Box 365067, San Juan, PR.
Published: September 2011
AI Article Synopsis
Article Abstract
Introduction: Genetic testing remains low among racial/ethnic minority populations in the United States. We aimed to determine the prevalence and correlates of awareness of direct-to-consumer (DTC) genetic tests and the prevalence of genetic test use in a population-based sample of adults in Puerto Rico.
Methods: We analyzed data from adults aged 18 years or older who completed information on genetic test awareness (n = 611; 96% of study population) from the Health Information National Trends Survey conducted in Puerto Rico in 2009. Odds ratios with 95% confidence intervals were estimated by using logistic regression models to identify factors associated with awareness of DTC genetic tests.
Results: The majority of respondents (56%) were aware of direct-to-consumer genetic tests, and approximately 4% had ever undergone any genetic test. Respondents who had never been married were less likely to be aware of DTC tests, as were current smokers. Respondents who ever sought cancer information were more likely to be aware of these tests.
Conclusion: We provide the first published data on the awareness of DTC genetic tests and on use of genetic testing in Puerto Rico. Forty-four percent of our sample of Puerto Rican adults were unaware of direct-to-consumer genetic tests. Given the lack of clear benefits of DTC genetic tests to the general population, educational interventions should be developed to increase awareness and specific knowledge regarding the appropriate use of DTC genetic tests among people who are already aware of their existence.
Low-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related genes (WFS1, DIAPH1) and less common genes (TNC, EYA4), achieving a 44% genetic diagnosis rate.
Alzheimer's disease (AD) is a debilitating neurodegenerative illness that has become a growing concern for older adults. As such, apolipoprotein E (APOE) genetic testing has become more commonly used to identify individuals' susceptibility to AD. An underrepresented population in AD research, Latinos will be disproportionately affected by AD in the coming decades.
Purpose: Atorvastatin is commonly used to treat dyslipidemia; however, individual responses vary considerably. This study endeavors to evaluate the relationship between polymorphisms in the coding sequence (CDS) of SLCO1B1 gene and blood lipid levels before and after atorvastatin treatment among the Chinese Han adults with dyslipidemia.
Patients And Methods: A total of 165 Chinese Han adults undergoing atorvastatin therapy were enrolled in this study and followed up quarterly.
Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.
Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.
Objectives: In this study, we describe a 54-year-old Indian woman who presented with clinical features of Kufs syndrome A (KSA) and Kufs syndrome B (KSB), as well as neuropathologic and genetic findings consistent with neuronal ceroid lipofuscinosis type 13 (CLN13). Subsequently, we review the clinicopathologic features of 20 patients with CLN13 reported in the literature.
Methods: Data and imaging were obtained from the patient's medical records.
