Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.

Implementation of pharmacogenetic testing in clinical care has been slow and with few exceptions is hindered by the lack of real-world evidence on how to best target testing. In this retrospective register-based study, we analyzed a nationwide cohort of 1,425,000 patients discharged from internal medicine or surgical wards and a cohort of 2,178 university hospital patients for purchases and prescriptions of pharmacogenetically actionable drugs. Pharmacogenetic variants were obtained from whole genome genotype data for a subset (n = 930) of the university hospital patients.

Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity.

Background: Individual assessment of CYP enzyme activities can be challenging. Recently, the potato alkaloid solanidine was suggested as a biomarker for CYP2D6 activity. Here, we aimed to characterize the sensitivity and specificity of solanidine as a CYP2D6 biomarker among Finnish volunteers with known CYP2D6 genotypes.

Work Ability in the Year after Rehabilitation-Results from the RehabNytte Cohort.

Background: There is limited knowledge regarding the impact of rehabilitation on work ability. The aim of this study was to explore factors associated with work ability 12 months following a multidisciplinary rehabilitation program in a cohort with different diagnoses.

Methods: Of 9108 potentially eligible participants for the RehabNytte research project, 3731 were eligible for the present study, and 2649 participants (mean age 48.

Evaluation of the expression levels of BRAF mRNA in primary tumors of thyroid cancer using an ultrasensitive mutation assay.

Background: The BRAF gene encodes for the mutant BRAF protein, which triggers downstream oncogenic signaling in thyroid cancer. Since most currently available methods have focused on detecting BRAF mutations in tumor DNA, there is limited information about the level of BRAF mRNA in primary tumors of thyroid cancer, and the diagnostic relevance of these RNA mutations is not known.

Methods: Sixty-two patients with thyroid cancer and non-malignant thyroid disease were included in the study.

Warfarin dose requirement in patients having severe thrombosis or thrombophilia.

Aims: Warfarin dose requirement varies significantly. We compared the clinically established doses based on international normalized ratio (INR) among patients with severe thrombosis and/or thrombophilia with estimates from genetic dosing algorithms.

Methods: Fifty patients with severe thrombosis and/or thrombophilia requiring permanent anticoagulation, referred to the Helsinki University Hospital Coagulation Center, were screened for thrombophilias and genotyped for CYP2C9*2 (c.