Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort.

Quantifying the contribution of genetics and environmental effects on disease initiation and progression, as well as the shared genetics of different diseases, is vital for the understanding of the disease etiology of multimorbidities. In this study, we leverage nationwide Danish registries to provide a granular atlas of the genetic origin of disease phenotypes for a cohort of all Danes 1978-2018 with partially known pedigree (n = 6.3 million). We estimate the heritability and genetic correlation between thousands of disease phenotypes using a novel approach that can be scaled to nationwide data. Our findings confirm the importance of genetics for a number of known associations and increase the resolution of heritability by adding numerous associations, some of which point to shared biologically origin of different phenotypes. We also establish the heritability of disease trajectories and the importance of sex-specific genetic contributions. Results can be accessed at https://h2.cpr.ku.dk/ .

The Value of a Brief Thought for the Day Reflection on an Academic Consult Service.

BACKGROUND: Work in hospice and palliative medicine can be stressful. A variety of methods have been used to mitigate workplace stress including mindfulness mediation, reflective writing, and physical activity. An intervention implemented at our institution is a "Thought for the Day," a short reflection on a piece of poetry, music, or religious writing. Although this practice may be commonplace in the field of hospice and palliative medicine, no literature has been published about its perceived utility by team members with various competing demands on their time. OBJECTIVE: This study's objective was to obtain a better understanding about the perception and utility of a Thought for the Day held by clinicians rounding on an academic palliative medicine consult service. METHODS: A survey, containing qualitative and quantitative elements was sent to faculty, staff, and learners who participated in a Thought for the Day over the 18 months between March 2013 and October 2014. Twenty-eight responses were returned and analyzed. RESULTS: Most participants (23 of the 28) felt that the Thought for the Day was an important use of their time on the academic consult service. Differences were seen by gender and team role. Additionally, it was reported that the Thought for the Day improved the participants' perception of teamwork. CONCLUSION: The use of a Thought for the Day reflection may be beneficial and constructive even for a busy academic consult service.

Prioritizing Approaches to Engage Community Members and Build Trust in Biobanks: A Survey of Attitudes and Opinions of Adults within Outpatient Practices at the University of Maryland.

BACKGROUND: Achieving high participation of communities representative of all sub-populations is needed in order to ensure broad applicability of biobank study findings. This study aimed to understand potentially mutable attitudes and opinions commonly correlated with biobank participation in order to inform approaches to promote participation in biobanks. METHODS: Adults from two University of Maryland (UMD) Faculty Physicians, Inc. outpatient practices were invited to watch a video and complete a survey about a new biobank initiative. We used: Chi-square to assess the relationship between willingness to join the biobank and participant characteristics, other potentially mutable attitudes and opinions, and trust in the UMD. We also used t-test to assess the relationship with trust in medical research. We also prioritize proposed actions to improve attitudes and opinions about joining biobanks according to perceived responsiveness. RESULTS: 169 participants completed the study, 51% of whom indicated a willingness to join the biobank. Willingness to join the biobank was not associated with age, gender, race, or education but was associated with respondent comfort sharing samples and clinical information, concerns related to confidentiality, potential for misuse of information, trust in UMD, and perceived health benefit. In ranked order, potential actions we surveyed that might alleviate some of these concerns include: increase chances to learn more about the biobank, increase opportunities to be updated, striving to put community concerns first, including involving community members as leaders of biobank research, and involving community members in decision making. CONCLUSIONS: This study identified several attitudes and opinions that influence decisions to join a biobank, including many concerns that could potentially be addressed by engaging community members. We also demonstrate our method of prioritizing ways to improve attitudes and opinions about joining a biobank according to perceived responsiveness.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

We have systematically compared copy number variant (CNV) detection on eleven microarrays to evaluate data quality and CNV calling, reproducibility, concordance across array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different analytic tools applied to the same raw data typically yield CNV calls with <50% concordance. Moreover, reproducibility in replicate experiments is <70% for most platforms. Nevertheless, these findings should not preclude detection of large CNVs for clinical diagnostic purposes because large CNVs with poor reproducibility are found primarily in complex genomic regions and would typically be removed by standard clinical data curation. The striking differences between CNV calls from different platforms and analytic tools highlight the importance of careful assessment of experimental design in discovery and association studies and of strict data curation and filtering in diagnostics. The CNV resource presented here allows independent data evaluation and provides a means to benchmark new algorithms.