In contrast to the modest progress made in the interpretation and clinical application of genomic data, genotyping technologies have experienced great progress. Genotyping costs are progressively decreasing making individual genotyping more commonly available. Financial availability of individual genome analysis and the strong desire of many people to know about their individual genomic characteristics, promotes the marketing of genetic tests of variable predictive value directly to the public. A survey of 2000 Russian respondents revealed very positive attitudes and beliefs towards these genetic developments: 85% of surveyed individuals would like to have their genetic risk for avoidable diseases estimated, and 89% responded stating that they would try to change their lifestyle by giving up bad habits, following a recommended diet or taking medications if a high risk of disease was identified. It is believed that with time, validated genetic information will find its rightful place in medicine, by supplementing phenotypic clinical data with validated genetic interpretations.

Although the tested variants were present in the neighboring, yet secluded, populations at the expected range of frequencies, the observed frequencies were significantly variable across Eurasian populations, indicating potential relevance to clinical decision making.

Many new genetic tests for common multifactorial disorders are becoming available to individuals, including direct-to-consumer genotyping services. Typically, studies of public attitudes reveal a high level of interest for individual genotyping. In a Russian urban population, 85% of 2000 respondents answered positively to a question about their own willingness to undergo predictive genetic testing for preventable health conditions. Gender, age and health status significantly influenced response. Multivariate discriminant analyses revealed that wanting to know about probable future diseases, readiness to improve lifestyles and an interest in learning about individual genome characteristics are the most important predictors for wanting to be tested. Along with the high level of interest, highly overestimated expectations were encountered in many studies. With the low predictive abilities of currently available genetic tests for common disorders, proper interpretation of the data and genetic counseling are essential. There is a need for prospective validation of genetic panels for risk assessments, and for efforts to measure the effects of genetic information disclosure and how this information might contribute to lifestyle changes.

Background Understanding regional differences in cognitive performance is important for interpretation of data from large multinational clinical trials. Methods Data from Durham and Cabarrus Counties in North Carolina, U.S. and Tomsk, Russia (n=2,972) were evaluated. The Montreal Cognitive Assessment (MoCA), Trail Making Test Part B (Trails B), CERAD Word List Memory Test delayed recall (WLM), and self-report ADCS Mail-In Cognitive Function Screening Instrument (MCFSI) were administered at each site. Multilevel modeling measured the variance explained by site and predictors of cognitive performance. Results Site differences accounted for 11% of the variation on the MoCA; 1.6% on Trails B; 1.7% on WLM; and 0.8% in MCFSI scores. Prior memory testing was significantly associated with WLM. Diabetes and stroke were significantly associated with Trails B and MCFSI. Conclusions Sources of variation include cultural differences, health conditions, and exposure to test stimuli. Findings highlight the importance of local norms to interpret test performance.

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