GENOME DATABASES feature is of clear value and has been extensively used by the Israeli genetics community, at present only the Israeli NEMDB has exploited this func- tionality of the ETHNOS sofware. The Cypriot and Lebanese NEMDBs were initially developed as national mutation frequency databases,7,8 based on the ETHNOS v1.0 soft- ware.11 These databases have migrated into the ETHNOS v2.0 software by expanding the existing information by not only enriching their content, but also by introducing new software functional- ities. By contrast, the Egyptian and Tunisian NEMDBs were developed from scratch. Unfortunately, genetic diseases cannot be compara- tively analysed among different ethnic or religious groups in these populations, since such information has not yet been provided (Table 1). Comparison of the previous and current versions of the ﬂat-ﬁle ETHNOS software Previously, there were two different ﬂat-ﬁle data- base versions of the ETHNOS software. The various features of the ﬁrst version of ETHNOS were further developed using structured query language (SQL), on which FINDbase development was based (http://www.ﬁndbase.org);12 this will not be mentioned further here. ETHNOS v2.0 has a more advanced search engine, with more search options for the user to Figure 3. Schematic drawing showing the evolution of NEMDBs towards a global national mutation frequency database (eg FINDbase)11 and a nationwide CGDB, to which data contribution occurs from different institutional CGDBs. In the former case, summary-level data are stored in a central repository, while in the latter case anonymous individual-level data are contributed unidirectionally in a data warehouse and comparatively analysed and queried. van Baal et al. query, and it extracts data from a more elaborate data ﬁle. Also, the v2.0 software includes the ‘Search þ’ option, ensuring patient anonymity. This function- ality was introduced because there is a growing need to document interesting genetic disorders that are prevalent in isolated ethnic groups without risking stigmatisation of patients and their families.13 In the v2.0 software, disease summary data querying can also be performed not only via drop-down menus, but also by using keywords, a functionality that was not available in the v1.0 software. The provision of the list of ‘genetics laboratories’ is another novelty in the v2.0 software, providing the user with a comprehensive list of genetics laboratories that perform genetic analyses in the country where the population/ethnic group(s) documented in the NEMBD reside(s). This func- tionality, which, unfortunately, has not yet been exploited to its full extent in some NEMDBs, offers the possibility of creating a ‘one-stop shop’ solution for genetics services in different countries. Finally, the use of the custom-made online editor is another functionality that distinguishes the two ﬂat-ﬁle versions of the ETHNOS software, since it facilitates data entry by curators with limited proﬁ- ciency in HTML. In other words, the editor allows not only direct copying of text, tables and images from word processors, but also online editing. Discussion NEMDBs are increasingly becoming important tools for the documentation of genomic variations in various populations around the globe, and, as such, they assume an important role in the pro- vision of genetics services.4 Presently, the adoption of NEMDBs is not uniform and varies among different populations and national healthcare systems. Development of these NEMDBs should conform to certain guidelines and recommen- dations in order to assist genetic variation data capture in developing countries, ensuring a com- prehensive worldwide data collection and better provision of healthcare services (Patrinos and co- workers, unpublished). Both versions of the ETHNOS software have contributed not only to 366 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 4. NO 5. 361–368 JUNE 2010