The Mount Sinai journal of medicine, New York
-
Pharmacogenetics is the study of how genetic variation influences the response to drugs. The concepts of race, ethnicity, and ancestry have long had a strong influence on pharmacogenetic discovery and on our understanding of population-level differences in drug response. ⋯ This article describes the relationship between the concepts of race, ethnicity, and ancestry and how these concepts have been applied to pharmacogenetics, and it provides examples of the benefits and pitfalls associated with the use of racial or ethnic labels in genetic studies. The future of pharmacogenetics, including the study of rare genetic variation and what this means for racial or ethnic disparities in pharmacogenetic discovery, is also discussed.
-
Racial and ethnic disparities in health are multifactorial; they reflect differences in biological vulnerability to disease as well as differences in social resources, environmental factors, and health care interventions. Understanding and intervening in health inequity require an understanding of the disparate access to all of the personal resources and environmental conditions that are needed to generate and sustain health, a set of circumstances that constitute access to health. ⋯ Various mechanisms through which access to health and access to health care are mediated by race and ethnicity are discussed; these include the built environment, social environment, residential segregation, stress, racism, and discrimination. Empirical evidence supporting the association between these factors and health inequities is also reviewed.
-
The preterm birth rate exceeds 12% in the United States, and preterm birth continues to be a clinical and public health challenge globally. Even though preterm birth is a major contributor to infant mortality and lifelong morbidity, there are few effective strategies to predict preterm birth and few clinical interventions to prevent it. ⋯ Both genetic and environmental factors are known to contribute to the racial disparity seen in preterm birth. Through the identification of relevant gene-environment interactions that contribute to preterm birth and may underlie the racial disparity in preterm birth, research that will translate to clinical practice and ultimately prevent a number of preterm births is possible.
-
Colorectal cancer is second only to lung cancer as the leading cause of death among North Americans of both sexes. Although screening rates for colorectal cancer in the United States have increased over the past decade, these rates (in the range of 45%-60%) are still lower than the screening rates for breast cancer (approximately 80%). Optical colonoscopy has been recognized as the preferred method for colorectal cancer screening in the United States, but computed tomography colonography has recently been gaining favor. This article compares the 2 methods with respect to both advantages and disadvantages.
-
The highest global prevalence rates for human immunodeficiency virus and acquired immune deficiency syndrome have been recorded in southern Africa; in the United States, individuals of African descent are disproportionately affected by human immunodeficiency virus infection. Human immunodeficiency virus-infected individuals with African ancestry are also estimated to have a 17-fold or greater risk for developing human immunodeficiency virus-associated nephropathy in comparison with their counterparts of non-African descent. ⋯ However, strong, replicated data show that the increased risk for human immunodeficiency virus-associated nephropathy, as well as other major forms of kidney disease in individuals of African descent, is due in part to MYH9 (myosin, heavy chain 9, non-muscle) renal disease susceptibility alleles that are very frequent throughout sub-Saharan Africa but are infrequent or absent in non-Africans. Selection, drift, and demographic events shape the allelic architecture of the human genome: it is expected that these events will be reflected in geographic-specific differentiation in allele frequencies for a small subset of alleles that may be associated with either increased or reduced risk for complex and infectious diseases.