In this trans-ethnic multi-omic study we reinterpret the genetic architecture of blood pressure to identify genes, tissues, phenome, and medication contexts of blood pressure homeostasis. We discovered 208 novel common blood pressure SNPs and 53 rare variants in GWASs of systolic, diastolic and pulse pressure in up to 776,078 participants from the Million Veteran Program (MVP) and collaborating studies, with analysis of the blood pressure clinical phenome in MVP. Our transcriptome-wide association study detected 4,043 blood pressure associations with genetically-predicted gene expression of 840 genes in 45 tissues, and murine renal single-cell RNA sequencing identified upregulated blood pressure genes in kidney tubule cells.

This study demonstrates that the technology for monitoring patients' symptoms worked well. The patients felt secure in the knowledge that their symptoms were being closely monitored and that they were participating effectively in their own care management.

The eMERGE Consortium* , * The advancement of precision medicine requires new methods to coordinate and deliver genetic data from heterogeneous sources to physicians and patients. The eMERGE III Network enrolled >25,000 participants from biobank and prospective cohorts of predominantly healthy individuals for clinical genetic testing to determine clinically actionable findings. The network developed protocols linking together the 11 participant collection sites and 2 clinical genetic testing laboratories. DNA capture panels targeting 109 genes were used for testing of DNA and sample collection, data generation, interpretation, reporting, delivery, and storage were each harmonized. A compliant and secure network enabled ongoing review and reconciliation of clinical interpretations, while maintaining communication and data sharing between clinicians and investigators. A total of 202 individuals had positive diagnostic findings relevant to the indication for testing and 1,294 had additional/secondary findings of medical significance deemed to be returnable, establishing data return rates for other testing endeavors. This study accomplished integration of structured genomic results into multiple electronic health record (EHR) systems, setting the stage for clinical decision support to enable genomic medicine. Further, the established processes enable different sequencing sites to harmonize technical and interpretive aspects of sequencing tests, a critical achievement toward global standardization of genomic testing. The eMERGE protocols and tools are available for widespread dissemination.

No abstract

Background: The use of cannabis by cancer patients has become increasingly common. With expanding access to medical cannabis, unsanctioned cannabis use is likely to increase. Despite this, the extent to which patients seeking specialized palliative or supportive care for cancer-related symptoms are actively using cannabis has not been well established. Objective: We sought to determine the extent to which patients seeking specialized symptom management were using cannabis and to compare the severity of cancer-related symptoms between users and nonusers. Methods: We conducted a retrospective review of objectively measured tetrahydrocannabinol (THC) and subjectively reported cannabis use, its demographic and clinical correlates, and patient-reported symptoms in 816 cancer patients in active treatment referred to a supportive/palliative care outpatient clinic for specialized symptom management between January 2014 and May 2017. Results: Nearly one-fifth (19.12%) tested positive for THC on urine drug testing. Users were younger, more likely to be men, single, and to have a history of cigarette smoking. Users also were likely to be more recently diagnosed and to have received radiotherapy. Certain moderate-to-severe symptoms, such as lack of appetite, shortness of breath, tiredness, difficulty sleeping, anxiety, and depression, were associated with use after accounting for sociodemographic and clinical differences between cannabis users and nonusers. Conclusions: Findings suggest patients seeking specialized symptom management are self-treating with cannabis, despite the lack of high-quality evidence for its use in palliative care. Unsanctioned use is likely to increase in cancer patients. Accurate information is urgently needed to help manage patient expectations for its use and increase understanding of risks and benefits.