Genetic information in current guidance There are

multiple views in the documents we examined on the breadth of what constitutes genetic information, though there is general agreement that information obtained from clinically accepted laboratory-based genetic tests constitutes genetic information. Some guidelines, however, view this as the only source of genetic information and limit genetic to “inheritable.” For example, GSK923295 the United Nations Educational, Scientific, and Cultural Organization (UNESCO) defines human genetic data as “information about heritable characteristics of individuals obtained by analysis of nucleic acids or by other scientific analysis” (UNESCO 2003). A number of organizations and governments, though, have adopted a broad view of what constitutes genetic information, C646 chemical structure covering a wider

range of information, which includes family history and could be extended to analysis of risk prediction models. In the USA, GINA provides such a definition and includes genetic tests, the genetic tests of family members, and the manifestation of a disease or disorder in family members (U.S. Bill H.R. 493 Genetic Information Nondiscrimination Act of 2008 (110th Cong.) 2008). Other countries that apply a broad definition of genetic information include the UK, where genotype, phenotype, and family information are explicitly included (Human Genetics Commission 2002; Royal College of Physicians et al. 2011), and the Council of Europe where: “the

Bay 11-7085 expression ‘genetic data’ refers to all data, of whatever type, concerning the hereditary characteristics of an individual or concerning the pattern of inheritance of such characteristics within a LY2835219 chemical structure related group of individuals.” (Council of Europe and Committee of Ministers 1997) Recent guidelines from Australia for the disclosure of genetic information by health professionals also take a broad view of this information, noting that it can come from a wide range of sources, including family history, and can confirm a particular condition or predict the likelihood of carrying a mutated gene (Government of Australia 2009). Consequences for broad and narrow conceptions of genetic information The use of a broad or narrow definition of genetic information for the purposes of encouraging intrafamilial communication can have important consequences for family members and patients alike. For family members, the consequences of a narrow definition based solely on inheritable characteristics ascertained through laboratory testing means that other information—risk prediction scores or tumor pathology results indicative of hereditary cancer—would not be information that patients are encouraged to share with their families.