Knowledge, Attitudes, and Practice Regarding Genetic Testing and Genetic Counselors in Jordan: A Population-Based Survey.

Genetic testing has a potential in the prevention of genetic diseases, particularly in communities with high rates of consanguineous marriage. Therefore, knowledge, practice, and attitudes of the public in Jordan regarding genetic testing were investigated. Individuals (N = 3,196) were questioned about the concepts of genetic testing and genetic counselors, if they underwent any genetic tests, the type of test, the method of consenting to the test, as well as their level of satisfaction with the privacy of the genetic testing service. The likelihood of pursuing predictive genetic testing for cancer was also investigated. Although almost 70 % of respondents knew the term "genetic testing," only 18 % had undergone genetic testing, primarily the mandatory premarital test. In addition, there was a lack of general knowledge about genetic counselors. Many of those who had genetic testing (45 %) indicated they did not go through a consent process, and a lack of consent was significantly related to dissatisfaction with the privacy of the service. Approximately 55 % of respondents indicated they would potentially pursue predictive genetic testing for cancer. Going for routine health checkups was not significantly correlated with either actual or potential uptake of genetic testing, suggesting health care providers do not play an influential role in patients' testing decisions. Our results show a gap between the knowledge and uptake of genetic testing and may help to guide the design of effective strategies to initiate successful genetic counseling and testing services.

Role of Transbronchial Lung Cryobiopsy in the Diagnosis of Interstitial Lung Disease: A Meta-analysis of 68 Studies and 6300 Patients.

BACKGROUND: Diagnosis of interstitial lung disease (ILD) is based on multidisciplinary team discussion (MDD) with the incorporation of clinical, radiographical, and histopathologic information if available. We aim to evaluate the diagnostic yield and safety outcomes of transbronchial lung cryobiopsy (TBLC) in the diagnosis of ILD. METHODS: We conducted a meta-analysis by comprehensive literature search to include all studies that evaluated the diagnostic yields and/or adverse events with TBLC in patients with ILD. We calculated the pooled event rates and their 95% confidence intervals (CIs) for the diagnostic yield by MDD, histopathologic diagnostic yield, and various clinical adverse events. RESULTS: We included 68 articles (44 full texts and 24 abstracts) totaling 6386 patients with a mean age of 60.7±14.1 years and 56% men. The overall diagnostic yield of TBLC to achieve a definite or high-confidence diagnosis based on MDD was 82.3% (95% CI: 78.9%-85.2%) and histopathologic diagnosis of 72.5% (95% CI: 67.7%-76.9%). The overall rate of pneumothorax was 9.6% (95% CI: 7.9%-11%), while the rate of pneumothorax requiring drainage by a thoracostomy tube was 5.3% (95% CI: 4.1%-6.9%). The rate of moderate bleeding was 11.7% (95% CI: 9.1%-14.9%), while the rate of severe bleeding was 1.9% (95% CI: 1.4%-2.6%). The risk of mortality attributed to the procedure was 0.9% (95% CI: 0.7%-1.3%). CONCLUSION: Among patients with undiagnosed or unclassified ILD requiring tissue biopsy for diagnosis, transbronchial cryobiopsy represents a reliable alternative to surgical lung biopsy with decreased incidence of various clinical adverse events.

Administration of Immune Checkpoint Inhibitors Near the End of Life.

PURPOSE: Recent literature suggests an increasing use of systemic treatment in patients with advanced cancer near the end of life (EOL), partially driven by the increasing adoption of immune checkpoint inhibitors (ICIs). While studies have identified this trend, additional variables associated with ICI use at EOL are limited. Our aim was to characterize a population of patients who received a dose of ICI in the last 30 days of life. METHODS: We performed a manual retrospective chart review of patients ≥ 18 years who died within 30 days of receiving a dose of ICI. Metrics such as Eastern Cooperative Oncology Group performance status (ECOG PS), number of ICI doses, need for hospitalization, and numerous other variables were evaluated. RESULTS: Over a 4-year time period, 97 patients received an ICI at EOL. For 40% of patients, the ICI given in the 30 days before death was their only dose. Over 50% of patients had an ECOG PS of ≥ 2, including 17% of patients with an ECOG PS of 3. Over 60% were hospitalized, 65% visited the emergency department, 20% required intensive care unit admission, and 25% died in the hospital. CONCLUSION: Our study contributes to the ongoing literature regarding the risks and benefits of ICI use in patients with advanced cancer near the EOL. While accurate predictions regarding the EOL are challenging, oncologists may routinely use clinical factors such as ECOG PS along with patient preferences to guide recommendations and shared decision making. Ultimately, further follow-up studies to better characterize and prognosticate this population of patients are needed.

Primary neuroendocrine tumours of the heart: case report and literature review.

Neuroendocrine tumours occur most frequently in the gastrointestinal tract, lungs, and pancreas. Primary malignant cardiac tumours are uncommon and are usually sarcomas, lymphomas, or, infrequently, mesotheliomas. Primary cardiac neuroendocrine carcinomas are exceedingly rare; only nine have been reported in the literature to date. We report the tenth case of this disorder in a 44-year-old man with a well-differentiated low-grade primary cardiac neuroendocrine carcinoma treated with surgery who remains in remission more than a year later. Our case and review of the literature demonstrate that surgical treatment for well-differentiated primary cardiac neuroendocrine carcinomas can be effective.