Genome screening, reporting, and genetic counseling for healthy populations.

Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data: (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.

A Guide to Implementing Immune Checkpoint Inhibitors within a Cancer Program: Experience from a Large Canadian Community Centre.

The increased use of immune checkpoint inhibitors across cancer programs has created the need for standardized patient assessment, education, monitoring, and management of immune-related adverse events (irAEs). At William Osler Health System in Brampton, Ontario, a practical step-wise approach detailing the implementation of cancer immunotherapy in routine practice was developed. The approach focuses on four key steps: (1) identification of patient educators; (2) development of patient education materials; (3) development of patient monitoring tools; (4) involvement and education of multidisciplinary teams. Here, we provide an in-depth description of what was included in each step and how we integrated the different elements of the program. For each step, resources, tools, and materials that may be useful for patients, healthcare providers, and multidisciplinary teams were developed or modified based on existing materials. At our centre, the program led to improved patient comprehension of irAEs, the ability to act on symptoms (patient self-efficacy), and low rates of emergency room visits at first presentation for irAEs. We recognize that centres may need to tailor the approaches to their institutional policies and encourage centres to adapt and modify the forms and tools according to their needs and requirements.

Effects of a Cancer Survivorship Clinic-preliminary results.

PURPOSE: Initial investigation of the impact of a Cancer Survivorship Clinic following its introduction in February 2017. METHODS: A systematic chart review of 176 patients enrolled in the Cancer Survivorship Clinic (CSC) who completed a minimum of one follow-up visit after the initial baseline visit. This was assessed using three screening tools: distress thermometer (DT), Canadian Problem Checklist (CPC), and Edmonton Symptom Assessment Scale (ESAS). Descriptive statistics and t tests were utilized to assess the impact of the CSC. RESULTS: Distress thermometer: Statistically significant decline in scores from the baseline visit to the follow-up visit among the study population (p < 0.05). There was a significant decline in score among high-risk patients with an initial DT≥4 (p < 0.0001). Canadian Problem Checklist: Based on the initial baseline visit, the top five reported causes of distress among the study population include pain, anxiety, fatigue, tingling in hands and feet, sleep. Edmonton Symptom Assessment Scale: Statistically significant decline in reported pain, tiredness, nausea, depression, anxiety, drowsiness, and shortness of breath scores (p < 0.05). CONCLUSIONS: Overall, patients had a significant reduction in distress from the baseline visit to the follow-up visit. High-risk patients experienced a more significant reduction in distress. Reduction in patient distress was independent of the number of visits to the clinic. Reported symptom severity for pain, tiredness, depression, anxiety, drowsiness, and shortness of breath also declined significantly following clinic intervention. Further qualitative studies required to establish the clinical significance of study findings. IMPLICATIONS FOR CANCER SURVIVORS: Continued active clinical support and education for cancer survivors should be considered a potentially essential element in the cancer treatment trajectory to address patient well-being and distress.