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Data analysis identified four themes related to ethnicity-based carrier screening: defining ethnicity; ethical dilemmas and sensitivities; ethnic awareness and good practice; and practicalities.
Although self-defined ethnicity is favoured by some, defining ethnicity is still the subject of ongoing debate.
Defining ethnicity and classifying persons on the grounds of ethnic status is, however, not easy.
We performed additional analyses to determine the sensitivity of our previously described method of defining ethnicity by principal components analysis in stage 2. The alternative classification method we employed was the ANCESTRYMAP [18] program, which uses genotype information from two ancestral populations to estimate admixture in a test population.
Defining ethnicity is challenging.
The discussion on defining ethnicity was one of the most dominant ones in our study.
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Ethnic origin and social class Determination of the ethnic origin of the child was based on parental information on the self-defined ethnicity of both parents or (where not available) parentally defined ethnicity of the child.
Similarly, the first principal component sufficiently distinguished between stage 1 white and blacks/African American controls, using a cutoff of PC1≤0.0059 to define ethnicity as white and PC1>0.0059 to define ethnicity as black/African American.
In most cases, the selected samples were composed of apparently healthy, randomly selected volunteers of defined ethnicity.
The first two principal components were plotted for stage 1 cases of known ethnicity, demonstrating that the first principal component distinguished between white and blacks/African American cases using a cutoff of PC1≤0.025 to define ethnicity as white and PC1>0.025 to define ethnicity as black/African American.
The categories used in the Office for National Statistics 1991 census classification system were used to define ethnicity.
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