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Abstract When BRCA1/2 genetic susceptibility testing was introduced in the clinic in the mid-nineties, the "Huntington protocol" was used in the counselling of individuals applying for genetic testing. This protocol includes at least three sessions with a certain reflection period before blood sampling. Evidence on the psychological impact of BRCA1/2 genetic susceptibility testing has been accumulating in the last years. We will give a short overview of these psychological studies in order to reflect the need of using the extensive Huntington protocol in the counselling of individuals applying for BRCA1/2 genetic susceptibility testing. A shortened and more flexible BRCA1/2 counselling protocol is delineated, in which the attention is focused on the needs and strengths of the individual.

Abstract Background Counseling for whole‐exome sequencing (WES) could benefit from aligning parents' pre‐ and post‐disclosure attitudes. A few studies have qualitatively compared parents' pre‐ and post‐disclosure attitudes toward receiving WES results for their child in a diagnostic setting. This study explored these attitudes in the context of children with a developmental delay. Methods Semi‐structured interviews were conducted with parents (n = 27) of 16 children undergoing diagnostic WES in trio‐analysis, both before and after receiving results. Results Three key insights emerged. First, the distinction between hoping and expecting was relevant for shaping parents' experiences with receiving results related to the primary indication. Second, parents of young children whose development of autonomous capacities was uncertain sometimes found themselves in a situation resembling a Catch‐22 when confronted with decisions about unsolicited findings (UFs): an important reason for consenting to WES was to gain a better picture of how the child might develop, but in order to make responsible choices about UFs, some ideas of their child's development is needed. Third, default opt‐ins and opt‐outs helped parents fathom new kinds of considerations for accepting or declining UFs in different categories, thereby aiding decision‐making. Conclusion Results from this study are relevant for counseling and policy development.

This project's main objective is to create an open-source database containing a sizeable number of high-quality images of shoe impressions. The Center for Statistics and Applications in Forensic Evidence (CSAFE) team collected images that represented those found at crime scenes and constructed a database that is publicly available to forensic science and research communities. The database includes images obtained from mixed impression types: full blood impression, partial blood impression, and dust impression. The impressions are made on different flooring (vinyl and tile), and captured via various lift techniques: gel lifts and handiprints (exemplar prints with high definition using graphite powder and clear sticky vinyl, backed by a white sheet), and saved in multiple digital file types (TIF, XMP, CR3, and JPG). Our data were collected to ensure reproducibility, using simple but well-described protocols and easily accessible materials.The complete dataset includes 936 unique shoeprint images saved in 3,275 digital files.Data were collected by trained volunteers making shoe impressions on flooring with the two mediums: spatter blood and graphite powder. To make an impression, volunteers wearing a shoe stepped into the material and then walked on the flooring. A separate “lighter” step was taken to create a partial print for the blood prints. The blood prints were brought to the photography station, where researchers labeled and photographed them. Graphite prints were covered with a gel lifter before being moved to the photography room. There, the researchers removed the lift, labeled, and then photographed them.Our data will be of significant use to researchers, examiners, and anyone who could benefit from using a large dataset like this. Footwear datasets are often difficult to find, especially ones that resemble crime scenes, so our data can help fill that gap.

Pre-symptomatic frontotemporal dementia (FTD) mutation carriers and first-degree family members that are 50% at-risk for FTD may experience symptoms of anxiety and depression as a result of the ambiguity of when or if symptoms of the disease will manifest. We conducted a pilot study to investigate the use of an online mindfulness-based stress reduction (MBSR) course to reduce symptoms of anxiety and depression in presymptomatic frontotemporal dementia (FTD) mutation carriers and individuals 50% at-risk. Seven known mutation carriers and six individuals 50% at-risk completed a standardized 8-week MBSR course, and filled out pre- and post and two-month follow-up questionnaires. The primary outcome measure was the Hospital Anxiety and Depression Scale (HADS). Measures of psychological distress (SCL-90-R), coping style (UCL), quality of life (SF-36) and mindfulness skills (FFMQ) were administered as secondary outcome. Group effects were analyzed with repeated measures ANOVA or Friedman's test, and the individual reliability change index (RCI) was calculated per participant for each outcome measure. Semi-quantitative data included an evaluation and process measure post-intervention. Significant decline was found on the HADS-A post-intervention and after 2 months (p = 0.01), with 54% and 62% of participants demonstrating a clinically significant RCI, respectively. On the HADS-D, significant decline was found 2 months post-intervention (p = 0.04), which was driven by 23% of participants whom had a clinically significant RCI. Additional changes were found between baseline and post-intervention on the seeking distraction and reassuring thoughts subscales of the UCL, the depression and interpersonal sensitivity subscales of the SCL, the observe subscale of the FFMQ, and on physical role limitations of the SF-36 (all p < 0.05). The process evaluation form indicated that the course was found beneficial by participants, and that they applied it in a wide range of everyday situations. This exploratory pilot study indicates the feasibility of MBSR in reducing anxiety and depression in presymptomatic FTD mutation carriers and 50% at-risk individuals. A randomized controlled trial is necessary to replicate these results.

Abstract Background Patient and public involvement for co-creation is increasingly recognized as a valuable strategy to develop healthcare research targeting patients’ real needs. However, its practical implementation is not as advanced and unanimously accepted as it could be, due to cultural differences and complexities of managing healthcare programs and clinical studies, especially in the rare disease field. Main body The European Neuromuscular Centre, a European foundation of patient organizations, involved its key stakeholders in a special workshop to investigate the position of the neuromuscular patient community with respect to healthcare and medical research to identify and address gaps and bottlenecks. The workshop took place in Milan (Italy) on January 19–20, 2018, involving 45 participants who were mainly representatives of the patient community, but also included experts from clinical centers, industry and regulatory bodies. In order to provide practical examples and constructive suggestions, specific topics were identified upfront. The first set of issues concerned the quality of life at specific phases of a patient’s life, such as at the time of diagnosis or during pediatric to adult transition, and patient involvement in medical research on activities in daily living including patient reported outcome measures. The second set of issues concerned the involvement of patients in the management of clinical research tools, such as registries and biobanks, and their participation in study design or marketing authorization processes. Introductory presentations were followed by parallel working group sessions, to gain constructive contributions from all participants. The concept of shared decision making was used to ensure, in discussions, a partnership-based identification of the wishes and needs of all stakeholders involved, and the “ladder of participation” tool served as a model to evaluate the actual and the desired level of patients’ involvement in all topics addressed. A general consensus on the outcome of the meeting was collected during the final plenary session. This paper reports the outcome of the workshop and the specific suggestions derived from the analysis of the first set of topics, related to quality of life. The outcomes of the second set of topics are reported elsewhere and are only briefly summarized herein for the sake of completeness. Conclusions The neuromuscular community proved to be very active and engaged at different levels in the healthcare initiatives of interest. The workshop participants critically discussed several topics, providing practical examples where different stakeholders could play a role in making a change and bridging gaps. Overall, they indicated the need for education of all stakeholders for better communication, where everyone should become an ambassador to promote real change. Support should also come from institutions and healthcare bodies both at structural and economic level.

Ammonium is a fundamental nutrient for phytoplankton growth in seawater and is a key component of the microbial loop. Ammonium measured in parallel with other nutrients is crucial in understanding the small temporal scale changes in oceanographic ecology. Despite the importance of measuring ammonium at sea, owing to its lability, there is no consensus on the best method. The lack of availability of certified reference materials for ammonium in seawater also makes it difficult to assess the accuracy and reproducibility of ammonium measurements. In this study we present a modified segmented flow analysis method using ortho-phthaldialdehyde (OPA) with fluorescence detection to measure ammonium at sea together with four other macro-nutrients (nitrate, nitrite, silicate and phosphate) in near real time. An in-house ammonium quality control (QC) material was produced to improve the accuracy and repeatability of the measurement at sea. The QC was prepared following two different methods and stored in two types of containers. The suitability of the in-house QC’s as a reference material were assessed onboard the RV Investigator in 2018 during two oceanographic voyages, including one on the repeat SR03 CLIVAR transect. This paper describes the production and assessment of the in-house QC for ammonium in seawater, providing groundwork for creating a short-term stable ammonium reference material for sea going voyages. The uncertainty of this method of ammonium measurement was found to be 0.10 μmol/L at ammonium concentration of 1.0 μmol/L. Results show that preparation of the QC inside a laminar flow cabinet and directly into 10 mL polypropylene sample tubes just prior to the commencement of the voyage improved its stability.

Information and communication technologies (ICTs) have been associated with development programmes for many decades. A theme of Lamberton's commentary on such initiatives focuses on the lack of attention given to information as a key factor in the development process. His writing reiterated a number of arguments that he saw as being fundamental to the application of an information perspective to development issues. With a focus on agricultural development policy in the Pacific region, the paper uses a number of propositions that are suggested by Lamberton to analyse contemporary development initiatives in Pacific Island agriculture. These propositions focus attention on information costs that can influence the transfer of information and development of knowledge. Document analysis of selected published sources from a Pacific Island development programme are reviewed to illustrate the significance of information costs for development processes. The paper addresses the contention between traditional authority and knowledge and its significance for development.

ObjectiveTo develop a generic scale for assessing attitudes towards genetic testing and to psychometrically assess these attitudes in the context of BRCA1/2 among a sample of French general practitioners, breast specialists and gyneco-obstetricians.Study design and settingNested within the questionnaire developed for the European InCRisC (International Cancer Risk Communication Study) project were 14 items assessing expected benefits (8 items) and drawbacks (6 items) of the process of breast/ovarian genetic cancer testing (BRCA1/2). Another item assessed agreement with the statement that, overall, the expected health benefits of BRCA1/2 testing exceeded its drawbacks, thereby justifying its prescription. The questionnaire was mailed to a sample of 1,852 French doctors. Of these, 182 breast specialists, 275 general practitioners and 294 gyneco-obstetricians completed and returned the questionnaire to the research team. Principal Component Analysis, Cronbach's α coefficient, and Pearson's correlation coefficients were used in the statistical analyses of collected data.ResultsThree dimensions emerged from the respondents' responses, and were classified under the headings: "Anxiety, Conflict and Discrimination", "Risk Information", and "Prevention and Surveillance". Cronbach's α coefficient for the 3 dimensions was 0.79, 0.76 and 0.62, respectively, and each dimension exhibited strong correlation with the overall indicator of agreement (criterion validity).ConclusionsThe validation process of the 15 items regarding BRCA1/2 testing revealed satisfactory psychometric properties for the creation of a new scale entitled the Attitudes Towards Genetic Testing for BRCA1/2 (ATGT-BRCA1/2) Scale. Further testing is required to confirm the validity of this tool which could be used generically in other genetic contexts.