ETHNOS: A versatile electronic tool for the development and curation of national genetic databases GENOME DATABASES the establishment of similar databases for different populations, but also to database content uniform- ity, as more than half of the available NEMDBs are based on this software. The NEMDB notion can be further expanded, yielding either a worldwide central repository for allele frequency data or a data warehouse of anon- ymous individual-level genetic data (Figure 3). One such worldwide central allele frequency repository, in which the frequency of genetic variants relating to a phenotypic alteration — namely inherited disease or variable drug response — will be depos- ited, is FINDbase (http://www.ﬁndbase.org).12 This has already been established along the lines discussed here and documents a substantial amount of genetic data, allele frequencies of pathogenic mutations12 and pharmacogenetically relevant single nucleotide polymorphisms.1 Apart from this application, collection of clinical genetic information on patients with particular genetic diseases, the investigation of a family’s clini- cal history and genotype – phenotype correlations are also important.14 Such data could be deposited in a central data warehouse derived from the various databases that exist in different healthcare institutions, namely hospitals, clinics and so on. The construction of depositories with genotype and phenotype information keyed to many individ- uals could be considered the ultimate database, hereafter termed ‘clinical genetics databases (CGDBs)’. At present, such databases are necessary components of large population-wide epidemiolo- gical projects that have been initiated in various countries, such as Iceland, Estonia, India and the UK. Certainly, when whole-genome sequencing becomes routine, and personalised medicine is common, then we may well take these CGDBs for granted. In the meantime, the ﬁrst efforts in that direction have begun to appear. In particular, a pro- totype software, allowing an individual’s genetic proﬁle to be stored in such a way that the infor- mation can only be retrieved by the patient and his/her physician, has been developed (Gkantouna, Tzimas and Patrinos, unpublished) (Figure 4). A convenient graphical interface is provided for the end user, who can enter data and retrieve results (through queries) from the CGDB in which the relevant information has been stored. The contents of the prototype CGDB are organised by theme, according to their semantic interpretation. At present, there are 15 topics, which generally collect information on parameters indicative of the pro- gress of the patient’s development and the results of speciﬁc genetic tests. Since the speciﬁc application is web based, end users have a number of important advantages — in particular, access from any com- puter or mobile device (mobile telephone or PDA), provided that there is an internet connec- tion. In this way, the user is not limited to an appli- cation that is installed locally on his or her computer. Moreover, there is the possibility of mul- tiple concurrent users. Such a database, currently under development, would allow patients to store all their genetic information and related phenotype securely, hence contributing decisively to custo- mised medical treatment, better diagnosis of heredi- tary diseases and unambiguous personal ID. Also, with data in a structured format, the end user can easily analyse them statistically and draw useful conclusions. Of course, CGDBs raise particularly complex ethical challenges that demand careful attention. Primarily, the inclusion of clinical and molecular data connected to speciﬁc individuals must be done in a way that ensures anonymity. How best to achieve this has not yet been established, but it is widely agreed that strict governance frameworks must be established to address any and all conﬁden- tiality concerns.13 Other issues that need to be dealt with include copyright and intellectual prop- erty protection, the nature of informed consent, data access rights, inferential relationships and so on. There are no universally agreed solutions to these problems as yet, and, while a detailed discus- sion is beyond the scope of this paper, these issues must be resolved if patient databases and personal- ised medicine are substantially to advance. Our prototype CGDB authentication mechanism is double layered, determined by the user’s password and IP address, while different user proﬁles are sup- ported, thereby providing scaled access to the infor- mation. In the future, this application may be # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 4. NO 5. 361–368 JUNE 2010 367