Patient Perceptions of Care as Influenced by a Large Institutional Pharmacogenomic Implementation Program.

Despite growing clinical use of genomic information, patient perceptions of genomic-based care are poorly understood. We prospectively studied patient-physician pairs who participated in an institutional pharmacogenomic implementation program. Trust/privacy/empathy/medical decision-making (MDM)/personalized care dimensions were assessed through patient surveys after clinic visits at which physicians had access to preemptive pharmacogenomic results (Likert scale, 1 = minimum/5 = maximum; mean [SD]). From 2012-2015, 1,261 surveys were issued to 507 patients, with 792 (62.8%) returned. Privacy, empathy, MDM, and personalized care scores were significantly higher after visits when physicians considered pharmacogenomic results. Importantly, personalized care scores were significantly higher after physicians used pharmacogenomic information to guide medication changes (4.0 [1.4] vs. 3.0 [1.6]; P < 0.001) compared with prescribing visits without genomic guidance. Multivariable modeling controlling for clinical factors confirmed personalized care scores were more favorable after visits with genomic-influenced prescribing (odds ratio [OR] = 3.26; 95% confidence interval [CI] = (1.31-8.14); P < 0.05). Physicians seem to individualize care when utilizing pharmacogenomic results and this decision-making augmentation is perceived positively by patients.

Disease-drug database for pharmacogenomic-based prescribing.

Providers have expressed a strong desire to have additional clinical decision-support tools to help with interpretation of pharmacogenomic results. We developed and tested a novel disease-drug association tool that enables pharmacogenomic-based prescribing to treat common diseases. First, 324 drugs were mapped to 484 distinct diseases (mean number of drugs treating each disease was 4.9; range 1-37). Then the disease-drug association tool was pharmacogenomically annotated, with an average of 1.8 pharmacogenomically annotated drugs associated/disease. Applying this tool to a prospectively enrolled >1,000 patient cohort from a tertiary medical center showed that 90% of the top ∼20 diseases in this population and ≥93% of patients could appropriately be treated with ≥1 medication with actionable pharmacogenomic information. When combined with clinical patient genotypes, this tool permits delivery of patient-specific pharmacogenomically informed disease treatment recommendations to inform the treatment of many medical conditions of the US population, a key initial step towards implementation of precision medicine.

Auditory-verbal declarative and operating memory among patients suffering from depressive disorders - preliminary study.

PURPOSE: Dysfunctions of auditory-verbal declarative and working memory are observed in patients with depressive disorders (DD). The authors wanted to see, whether antidepressive therapy improved the efficiency of cognitive processes among patients suffering from DD and determine possible associations between auditory-verbal declarative and working memory performance, evaluated before treatment vs. remission degree after treatment. MATERIAL AND METHODS: The study was carried out in 87 subjects, patients with depressive disorders (n=30, DD) and healthy subjects (n=57, CG, control group). The AVLT (Auditory Verbal Learning Test) and the Stroop Test were used. RESULTS: CG obtained higher results vs. DD-I (the evaluation started on the therapy onset) in the Stroop Test-RCNb (Reading Colour Names in Black)/time, NCWd (Naming Colour of Word - Different)/time, NCWd/errors, AVLT: the number of words after 30 minutes. CG demonstrated higher results than DD-II (following eight weeks of pharmacological treatment) in RCNb/time, NCWd/time, AVLT: the number of words in the first trial, the number of words after 30 minutes. Compared to DD-I, DD-II achieved better results in NCWd/errors. No statistically significant differences were observed in both tests between the patients with remission and without remission. Statistical analysis revealed the lack of significant dependences among HDRS after treatment and cognitive functions before treatment. CONCLUSIONS: Depressive disorders are associated with deteriorated efficiency of auditory-verbal declarative and working memory. No improvement was observed in the efficiency of auditory-verbal declarative or working memory after 8-week therapy. The performance level of cognitive processes before pharmacotherapy has no effect on the intensity of depression symptoms after therapy.

Will genetic polymorphism of tetranucleotide sequences help in the diagnostics of major psychiatric disorders?

Expecting a significant breakthrough in the diagnosis of complex disorders of neuropsychiatric background, intensive efforts are taking place to establish genetic markers correlated with these disorders. During the last decade, this research was focused on code regions connected with neurotransmission and metabolism of catecholamines. Nowadays big diagnostic expectations are associated with sequences of STR type, which are widespread throughout the genome. These microsatellite sequences do not code proteins, but may have function of regulatory elements in the process of gene transcription and expression. One of these is polymorphic TH01 locus with TCAT tetranucleotide repetitive motive. It is located in chromosomal position 11p15 in the first intron of the tyrosine hydroxylase gene (TH). We examined the existence of the association between polymorphism of TH01 marker and schizophrenia. The results of statistical comparative analysis between neuropsychiatric patients from Poland and their regionally matched healthy subjects were presented.

[Effect of elevated external temperature on diurnal fluctuations of pulse and blood levels of glucose and lactic acid]. / Wplyw podwyzszonej temperatury zewnetrznej na dobowe wahania tetna oraz poziomu glukozy i kwasu mlekowego we krwi.

Studies were performed in two 24 hrs' series. In series I, subjects (6 students of Physical Education Academy, aged 21-22) stayed at 18 degrees C and 36% humidity, whereas in series II every 2 hrs at 18 degrees C and 50 degrees C from 6.00 to 6.00 next day. Identical diet was applied for both series. Levels of glucose and LA in blood were determined by modern enzymatic microtechniques, using the Boehringer Firm tests. 24 hrs fluctuations in the pulse, levels of glucose and lactic acid (lesser at night), accompanied by a significant impact of increased external temperature upon the mentioned indices were found. Apart from statistically significant fluctuations at different times of the day and night, also statistically significant differences in 24 hrs' mean values of the parameters between both series were found.