Genetic discrimination and screening for hemochromatosis: then and now

Any two people on earth, save for identical twins, share in common roughly 99.9% of their genetic make-up. That 0.1% difference represents not just what, on a molecular level, distinguishes us from one another, but also has reportedly served as a basis for excluding individuals from insurance, employment, adoption, educational opportunities, family relations, as well as perceived life options. The first federal study of genetic discrimination, discrimination based on genotype as opposed to phenotype, included treated hereditary hemochromatosis (HH) as one of only five genotypes possibly providing a basis for discrimination. HH was selected because if a successfully treated condition that is nonetheless genetic but which, if properly managed, leaves affected individuals at no greater morbidity or mortality risk than the general population, then genotype independent of phenotype apparently provided a basis for exclusions. Since the publication of those results, much more is known about the genotypic and phenotypic variation of affected individuals. This paper discusses what is presently known about HH and genetic discrimination.