Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.
The probability of refilling prescription opioids after surgery was not correlated with initial prescription strength, suggesting surgeons could prescribe smaller prescriptions without influencing refill requests. Future research that examines the interplay between pain, substance abuse, and mental health could inform strategies to tailor opioid prescribing for patients.
Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p = 0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted.
OBJECTIVE: The aim of this study was to explore differences in attitudes, behaviors and expectations related to COVID-19 between physicians and patients with asthma. METHODS: An anonymous survey was distributed through email and social media to adult patients with asthma during a three-week period in April-May 2020. A separate survey was sent to physicians. The surveys asked about demographic information, specific challenges and concerns due to COVID-19, and attitudes/behaviors during this time. RESULTS: A total of 1171 patients and 225 physicians completed the surveys. Overall, patients with asthma and physicians had large differences in expectations related to COVID-19. Patients were more likely than physicians to believe that individuals with asthma are at a higher risk to get COVID-19 (37.5% vs. 12.0%, p < 0.001), have increased anxiety due to COVID-19 (79.6% vs 70.0%, p = 0.002), and should not go to work (62.7% vs 11.9%, p < 0.001). Neither patients nor physicians felt confident they could distinguish COVID-19 symptoms from asthma (61.2% and 74.5% did not feel confident, respectively). Patients with severe asthma were significantly more impacted by the pandemic (e.g. became unemployed [OR 2.15], had difficulty getting asthma meds [OR 2.37]) compared to those with nonsevere asthma. CONCLUSION: Patients with asthma and their physicians have markedly different attitudes and opinions regarding care during the COVID-19 pandemic. Such differences have important implications when providing patient-centered care.
Firearm-related deaths remain a top cause of mortality in American children and adolescents. In a 2012 policy statement, the American Academy of Pediatrics urged pediatricians to incorporate questions about the availability of firearms into their patient history taking. We aim to evaluate the frequency of screening for home firearms in an academic tertiary-care hospital inpatient setting. METHODS: This retrospective chart review examined patients with the following pediatric diagnoses admitted to a tertiary-care pediatric hospital from 2006 to 2015: asthma, bronchiolitis, cellulitis, jaundice, single liveborn infant, bacterial and viral pneumonia, and all mood disorders. Data analysts then searched the patient charts that met these inclusion criteria for documentation of firearm screening as indicated by use of the terms "firearm," "pistol," "gun," "handgun," "bullet," "ammunition," or "rifle" in the admissions history and physical. RESULTS: Evidence of screening for firearms in the home was found in 1196 of the 40 658 charts included in the study (2.94%). The most frequently screened diagnosis and admitting service were mood disorders and child psychiatry, respectively (1159 of 3107; 37.3%). Only 19.8% of identified gun-owning families received specific anticipatory guidance. CONCLUSIONS: Firearm screening and gun safety education occurred infrequently in the inpatient setting. Inpatient encounters may provide an opportunity for increased screening and education because the hospital environment also includes additional resources, exposure to a greater number of providers, and the presence of more family members or caregivers. Further studies are warranted to explore barriers to inpatient screening and possible mechanisms for improvement.
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