Race and health
|Genetics and differences|
Race and health research studies the diseases and health conditions that vary in frequency among genetically different populations.[not in citation given] For example, lactose intolerance is a single-gene genetic disorder that differs in frequency between populations.
Disease variation 
Single gene disorders 
There are many single gene genetic disorders that differ in frequency between different populations due to the region, though many assume it to be solely based on race. Some examples are discussed below.
Sickle-cell anemia is most prevalent in populations of sub-Saharan African ancestry, but it is also common among Latin-American, Indian, Saudi Arab, and Mediterranean populations such as Turkey, Greece, and Italy.
Hereditary hemochromatosis is most common among those of Northern European ancestry, in particular those of Celtic descendent.
Multifactorial polygenic diseases 
These are many diseases which differ in frequency between different populations.
|Health defined group||High-risk groups||Low-risk groups||Reference(s)|
|Alcoholism||Native Americans, Aboriginal Australians||Europeans|||
|Atrial fibrillation||European Americans||African Americans|||
|Carotid artery disease||European Americans||African Americans|||
|Coronary artery disease||European Americans||African Americans, West African men|||
|Dementia||African Americans||European Americans|||
|Focal segmental glomerulosclerosis||African Americans||European Americans|||
|Hepatitis C clearance||European Americans||African Americans|||
|HIV progression||African Americans||European Americans|||
|HIV vertical transmission||European Americans||African Americans|||
|Hypertension||African Americans, West Africans||Europeans|||
|Hypertensive heart disease||African Americans||European Americans|||
|Hypertensive retinopathy||African Americans||European Americans|||
|Intracranial haemorrhage||African Americans||European Americans|||
|Lupus nephritis with systemic lupus erythematosus||African Americans||European Americans|||
|Lung cancer||African Americans||European Americans|||
|Multiple sclerosis||Europeans||African Americans, Turkmens, Uzbeks, Native Siberians, New Zealand Maoris|||
|Myeloma||African Americans||European Americans|||
|Non-insulin dependent diabetes||African Americans, West Africans, Peninsular Arabs, Pacific Islanders and Native Americans||European Americans, Europeans|||
|Obesity||African women, Native Americans, Pacific Islanders, Aboriginal Australians||European Americans, Europeans, Southeast Asians|||
|Osteoporosis||European Americans||African Americans|||
|Pregnancy-related death||African Americans||European Americans|||
|Prostate cancer||Africans and African Americans||European Americans|||
|Renal disease, end stage||Native Americans and African populations||European Americans, Europeans|||
|Stroke||African Americans||European Americans|||
|Systemic lupus erythematosus||African Americans, West Africans, Native Americans||Europeans|||
|Systemic sclerosis||African Americans||European Americans|||
Disease progression 
|This section requires expansion. (April 2012)|
Groups may differ in how a disease progresses.
Different groups may require different preventive measures to prevent specific diseases. For example, disease prevention for melanoma, which can include proper use of sun screen and reducing the risks of sun exposure, could be targeted to groups that are much more likely to develop melanoma from sun exposure.
|This section requires expansion. (April 2012)|
Groups may differ in their responses to treatment.
Medicines targeted at specific races 
Race-based medicine is the term for medicines that are targeted at specific ethnic clusters which are shown to have a propensity for a certain disorder. The first example of this in the U.S. was when BiDil, a medication for congestive heart failure, was licensed specifically for use in American patients that self-identify as black. Previous studies had shown that African American patients with congestive heart failure generally respond less effectively to traditional treatments than white patients with similar conditions.
After two trials, BiDil was licensed exclusively for use in African American patients. Critics have argued that this particular licensing was unwarranted, since the trials did not in fact show that the drug was more effective in African Americans than in other groups, but merely that it was more effective in African Americans than other similar drugs. It was also only tested in African American males, but not in any other racial groups or among women. This peculiar trial and licensing procedure has prompted suggestions that the licensing was in fact used as a race based advertising scheme.
Critics are concerned that the trend of research on race specific pharmaceutical treatments will result in inequitable access to pharmaceutical innovation and smaller minority groups may be ignored. This has led to a call for regulatory approaches to be put in place to ensure scientific validity of racial disparity in pharmacological treatment.
Environmental explanations 
In multiracial societies such as the United States, racial groups differ greatly in regard to social and cultural factors such as socioeconomic status, healthcare, diet, and education. There is also the presence of racism which some see as a very important explaining factor. Some argue that for many diseases racial differences would disappear if all environmental factors could be controlled for. See the article about race and health in the United States for a discussion of such factors. These factors may or may not be appropriate in other nations.
Ethnic minorities may also have specific health care needs which need to be taken into consideration by health services in order to tackle health disparities.
Health disparities 
Health disparities refer to gaps in the quality of health and health care across racial and ethnic groups. The US Health Resources and Services Administration defines health disparities as "population-specific differences in the presence of disease, health outcomes, or access to health care." Health is measured through variables such as life expectancy and incidence of diseases.
Genetic explanations 
Evolutionary explanations 
Genes may be under strong selection in response to local diseases. For example, people who are duffy negative tend to have higher resistance to malaria. Most Africans are duffy negative and most non-Africans are duffy positive. A number of genetic diseases more prevalent in malaria-afflicted areas may provide some genetic resistance to malaria including sickle cell disease, thalassaemias, glucose-6-phosphate dehydrogenase, and possibly others.
Many theories about the origin of the cystic fibrosis have suggested that it provides a heterozygote advantage by giving resistance to diseases earlier common in Europe.
In earlier research a common theory was the "common disease-common variant" model. It argues that for common illnesses, the genetic contribution comes from the additive or multiplicative effects of gene variants that each one is common in the population. Each such gene variant is argued to cause only a small risk of disease and no single variant is enough to cause the disease. An individual must have many of these common gene variants in order for the risk of disease to be substantial.
More recent research indicates that the "common disease-rare variant" may be a better explanation for many common diseases. In this model, rare but higher-risk gene variants cause common diseases. This model may be particularly relevant for diseases that reduces fertility. In contrast, for common genes associated with common disease to persist they must either have little effect during the reproductive period of life (like Alzheimer's disease) or provide some advantage in the original environment (like genes causing autoimmune diseases also providing resistance against infections). In either case varying frequencies of genes variants in different populations may be an explanation for health disparities. Genetic variants associated with Alzheimer's disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to "common disease-common variant" model.
Gene flow 
Gene flow and admixture can also have an effect on relationships between race and race-linked disorders. Multiple sclerosis, for example, is typically associated with people of European descent, but due to admixture African Americans have elevated levels of the disorder relative to Africans.
Gene interactions 
The same gene variant, or group of gene variants, may produce different effects in different populations depending on differences in the gene variants, or groups of gene variants, they interact with. One example is the rate of progression to AIDS and death in HIV–infected patients. In Caucasians and Hispanics, HHC haplotypes were associated with disease retardation, particularly a delayed progression to death. In contrast, for African Americans, possession of HHC haplotypes was associated with disease acceleration.
Controversy regarding race in biomedicine 
There is a controversy regarding race as a method for classifying humans. Different sources argue it is purely social construct or a biological reality reflecting average genetic group differences. New interest in human biological variation has resulted in a resurgence of the use of race in biomedicine.
The main impetus for this development is the possibility of improving the prevention and treatment of certain diseases by predicting hard-to-ascertain factors, such as genetically conditioned health factors, on the basis of more easily ascertained characteristics such as phenotype and racial self-identification. Since medical judgment often involves decision-making under uncertain conditions, many doctors consider it useful to take race into account when treating disease because diseases and treatment responses tend to cluster by geographic ancestry. The discovery that more diseases than previously thought correlate with racial identification have further sparked the interest in using race as a proxy for bio-geographical ancestry and genetic buildup.
Race in medicine is used as an approximation for more specific genetic and environmental risk factors. Race is thus partly a surrogate for environmental factors such as differences in socioeconomic status that are known to affect health. It is also an imperfect surrogate for ancestral geographic regions and differences in gene frequencies between different ancestral populations and thus differences in genes that can affect health. This can give an approximation of probability for disease or for preferred treatment, although the approximation is less than perfect.
Taking the example of sickle-cell disease, in an emergency room, knowing the geographic origin of a patient may help a doctor doing an initial diagnosis if a patient presents with symptoms compatible with this disease. This is unreliable evidence with the disease being present in many different groups as noted above with the trait also present in some Mediterranean European populations. Definitive diagnosis comes from examining the blood of the patient. In the US, screening for sickle cell anemia is done on all newborns regardless of race.
The continued use of racial categories has been criticized. Apart from the general controversy regarding race, some argue that the continued use of racial categories in health care and as risk factors could result in increased stereotyping and discrimination in society and health services. On the other hand, also some of those who are critical of race as a biological concept see race as socially meaningful group that is important to study epidemiologically in order to reduce disparities.
David Williams (1994) argued, after an examination of articles in the journal Health Services Research during the 1966-90 period, that how race was determined and defined was seldom described. At a minimum, researchers should describe if race was assessed by self-report, proxy report, extraction from records, or direct observation. Race was also often used questionable, such as an indicator of socioeconomic status. Racial genetic explanations may be overemphasized, ignoring the interaction with and the role of the environment.
From concepts of Race to Ethnogenetic Layering 
There is general agreement that a goal of health-related genetics should be to move past the weak surrogate relationships of racial health disparity and get to the root causes of health and disease. This includes research which strives to analyze human genetic variation in smaller groups than races across the world.
One such method is called ethnogenetic layering. It works by focusing on geographically identified microethnic groups. For example, in the Mississippi Delta region ethnogenetic layering might include such microethnic groups as the Cajun (as a subset of European Americans), the Creole and Black groups [with African origins in Senegambia, Central Africa and Bight of Benin] (as a subset of African Americans), and Choctaw, Houmas, Chickasaw, Coushatta, Caddo, Atakapa, Karankawa and Chitimacha peoples (as subsets of Native American Indians).
Better still may be individual genetic assessment of relevant genes. However, until cheaper and more widely available methods of genetic analysis are commonplace, the consideration of race remains a worthwhile practice for many doctors and researchers. Even when such methods become commonly available, race will continue to be important when looking at groups instead of individuals such as in epidemiologic research.
Association studies 
One area in which population categories can be important considerations in genetics research is in controlling for confounding between population genetic substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied, although the magnitude of its problem in genetic association studies is subject to debate. Various techniques detect and account for population substructure, but these methods can be difficult to apply in practice.
Population genetic substructure also can aid genetic association studies. For example, populations that represent recent mixtures of separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations. Genetic studies can use this disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.
Human genome projects 
The Human Genome Diversity Project has collected genetic samples from 52 indigenous populations. This sampling has been controversial because some fear that racists might use the results, because the sampling might overemphasize genetic distinctions, because of informed consent issues, and patenting issues.
Several other genome projects also studies populations from around the world but often not as diverse.
See also 
- Ethnicity and health
- ACE inhibitor; a type of drugs found to work less effectively with people of African origin
- Health and intelligence
- Human stature#Average height around the world
- List of countries by life expectancy
- Ethnic bioweapon
- Social determinants of health
- Medical genetics of Jews
- Hispanic Paradox
- Category:Human genome projects
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Further reading 
- Appel JM (July 2009). "Is all fair in biological warfare? The controversy over genetically engineered biological weapons". Journal of Medical Ethics 35 (7): 429–32. doi:10.1136/jme.2008.028944. PMID 19567692.
- Bohannon AD (June 1999). "Osteoporosis and African American women". Journal of Women's Health & Gender-based Medicine 8 (5): 609–15. doi:10.1089/jwh.1.1999.8.609. PMID 10839646.
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- Dvornyk V, Liu XH, Shen H, et al. (May 2003). "Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass". Annals of Human Genetics 67 (Pt 3): 216–27. doi:10.1046/j.1469-1809.2003.00037.x. PMID 12914574.
- "Genes, drugs and race". Nature Genetics 29 (3): 239–40. November 2001. doi:10.1038/ng1101-239. PMID 11687784.
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- Cultural Diversity in Healthcare Speaker Series University of Wisconsin School of Medicine and Public Health
- Cultural Diversity in Healthcare Research Symposium University of Wisconsin School of Medicine and Public Health
- Unnatural causes, videos on how racial inequalities influence health
- United States Office of Minority Health
- United Kingdom National Health Service - Ethnicity & Health
- Multicultural Mental Health Australia