Assessment of dried blood spots for DNA methylation profiling

Background: DNA methylation reflects health-related environmental exposures and genetic risk, providing insights into aetiological mechanisms and potentially predicting disease onset, progression and treatment response. An increasingly recognised need for large-scale, longitudinally-profiled samples collected world-wide has made the development of efficient and straightforward sample collection and storage procedures a pressing issue. An alternative to the low-temperature storage of EDTA tubes of venous blood samples, which are frequently the source of the DNA used in such studies, is to collect and store at room temperature blood samples using purpose built filter paper, such as Whatman FTA® cards. Our goal was to determine whether DNA stored in this manner can be used to generate DNA methylation profiles comparable to those generated using blood samples frozen in EDTA tubes. Methods: DNA methylation profiles were obtained from matched EDTA tube and Whatman FTA® card whole-blood samples from 62 Generation Scotland: Scottish Family Health Study participants using the Infinium HumanMethylation450 BeadChip. Multiple quality control procedures were implemented, the relationship between the two sample types assessed, and epigenome-wide association studies (EWASs) performed for smoking status, age and the interaction between these variables and sample storage method. Results: Dried blood spot (DBS) DNA methylation profiles were of good quality and DNA methylation profiles from matched DBS and EDTA tube samples were highly correlated (mean r = 0.991) and could distinguish between participants. EWASs replicated established associations for smoking and age, with no evidence for moderation by storage method. Conclusions: Our results support the use of Whatman FTA® cards for collecting and storing blood samples for DNA methylation profiling. This approach is likely to be particularly beneficial for large-scale studies and those carried out in areas where freezer access is limited. Furthermore, our results will inform consideration of the use of newborn heel prick DBSs for research use

Inventory of current EU paediatric vision and hearing screening programmes

Background: We examined the diversity in paediatric vision and hearing screening programmes in Europe. Methods: Themes relevant for comparison of screening programmes were derived from literature and used to compile three questionnaires on vision, hearing and public-health screening. Tests used, professions involved, age and frequency of testing seem to influence sensitivity, specificity and costs most. Questionnaires were sent to ophthalmologists, orthoptists, otolaryngologists and audiologists involved in paediatric screening in all EU fullmember, candidate and associate states. Answers were cross-checked. Results: Thirty-nine countries participated; 35 have a vision screening programme, 33 a nation-wide neonatal hearing screening programme. Visual acuity (VA) is measured in 35 countries, in 71% more than once. First measurement of VA varies from three to seven years of age, but is usually before the age of five. At age three and four picture charts, including Lea Hyvarinen are used most, in children over four Tumbling-E and Snellen. As first hearing screening test otoacoustic emission (OAE) is used most in healthy neonates, and auditory brainstem response (ABR) in premature newborns. The majority of hearing testing programmes are staged; children are referred after one to four abnormal tests. Vision screening is performed mostly by paediatricians, ophthalmologists or nurses. Funding is mostly by health insurance or state. Coverage was reported as >95% in half of countries, but reporting was often not first-hand. Conclusion: Largest differences were found in VA charts used (12), professions involved in vision screening (10), number of hearing screening tests before referral (1-4) and funding sources (8)

Development of a measurement system for complex oral information transfer in medical consultations

Background Information exchange between physician and patient is crucial to achieve patient involvement, shared decision making and treatment adherence. No reliable method exists for measuring how much information physicians provide in a complex, unscripted medical conversation, nor how much of this information patients recall. This study aims to fill this gap by developing a measurement system designed to compare complex orally provided information to patient recall. Methods The development of the complex information transfer measurement system required nine methodological steps. Core activities were data collection, definition of information units and the first draft of a codebook, refinement through independent coding and consensus, and reliability testing. Videotapes of physician-patient consultations based on a standardized scenario and post-consultation interviews with patients constituted the data. The codebook was developed from verbatim transcriptions of the videotapes. Inter-rater reliability was calculated using a random selection of 10% of the statements in the transcriptions. Results Thirtyfour transcriptions of visits and interviews were collected. We developed a set of rules for defining a single unit of information, defined detailed criteria for exclusion and inclusion of relevant units of information, and outlined systematic counting procedures. In the refinement phase, we established a system for comparing the information provided by the physician with what the patient recalled. While linguistic and conceptual issues arose during the process, coders still achieved good inter-rater reliability, with intra-class correlation for patient recall: 0.723, and for doctors: 0.761. A full codebook is available as an appendix. Conclusions A measurement system specifically aimed at quantifying complex unscripted information exchange may be a useful addition to the tools for evaluating the results of health communication training and randomized controlled trials

Three strategies when physicians provide complex information in interactions with patients: How to recognize and measure them

Objective To define and operationalize three taught strategies for providing information in interactions with patients using videos collected in a randomized controlled trial (RCT). Methods This was a qualitative exploratory study embedded in a randomized controlled design, using microanalysis of face-to-face dialogue as an inductive video analysis method to operationalize physicians’ use of three information-provision strategies. Data were 34 video-recorded simulated (but unscripted) interactions between 17 physicians and 34 multiple sclerosis patients collected before and after a brief course on information provision. We operationalized (1) mapping the patient’s preferences and (2) checking the patient’s understanding, and pauses indicative of (3) portioning information. Results Results are detailed analytical definitions, criteria, and assessable, quantifiable outcomes for each of the three strategies. Patients responded to portioning pauses as expected: whereas 91% of these pauses elicited an immediate patient response, only 23% of non-portioning pauses did so. Conclusion Our methods revealed how to define and evaluate information sharing strategies physicians used within the contingencies of clinical interaction. Practice implications Findings provide applicable methods to teach, analyze, and evaluate information sharing strategies and indications for further training