Telesupervision in genetic counseling education during COVID-19 and beyond.

The COVID-19 pandemic led healthcare organizations to pivot to telemedicine, precipitating the shift to telesupervision, defined as supervision over video-conferencing platforms and telephone, for genetic counseling students. This study aimed to (1) characterize the impact of the COVID-19 pandemic on genetic counseling supervision, (2) ascertain genetic counseling supervisor experiences with telesupervision, and (3) examine the association between years of genetic counseling experience and preferences related to supervision modality. Certified genetic counselors were recruited through the National Society of Genetic Counselors (NSGC), Pennsylvania Association of Genetic Counselors (PAGC), and Association of Genetic Counseling Program Directors (AGCPD) listservs and by purposive sampling via emails to Genetic Counseling Program Directors in program-rich regions. An investigator-created survey was administered online to elicit descriptions of supervision during the pandemic, including modifications to rotations, changes to the number of students supervised, and mode of supervision preference. The survey was completed by 122 genetic counselors. The 54-question survey included multiple-choice, ranking, and open-ended questions. The majority (95.9%) of the participants were female, with an average age of 32 years. Most (86%) of participants reported changes in their supervision practices due to COVID-19, including sole use of telesupervision (54.4%), decreases in rotation lengths (25.4%), and delays in rotation start dates (24.6%). Interestingly, 19.3% (22/114) supervised more students than before the pandemic, and 18.4% (21/114) of participants supervised fewer students. Approximately two thirds (67.5%) of supervisors preferred supervising students in-person, while 2.6% preferred telesupervision, and 29.8% had no preference. Those who preferred to supervise in-person had fewer years of experience than those who had no preference (median = 4 years vs. median = 7 years respectively, Wilcoxonp-value = 0.0418, effect size rpb = 0.19, small). Given the persistence of telemedicine beyond the pandemic, telesupervision may be necessary to train genetic counseling students. However, additional research is needed to determine the effectiveness of telesupervision in facilitating student skill development and attainment of the Accreditation Council for Genetic Counseling (ACGC) Practice-Based Competencies (PBCs).

Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.

BACKGROUND: The American Society of Breast Surgeons recommends genetic testing (GT) for all women with breast cancer (BC), but implementation and uptake of GT has not been well-described. METHODS: A retrospective chart review was performed for newly diagnosed BC patients or patients with a newly identified recurrence of BC seen in a multidisciplinary clinic (MDBC) who were offered genetic counseling (GC) and GT. RESULTS: The 138 women attending the MDBC had a median age of 54 years and comprised non-Hispanic whites (46%), Asians (28%), Hispanics (17%), blacks (4%), and other (5%). Of the 105 (76%) patients without prior GT, 100 (95%) accepted GC, with 93 (93%) of these 100 patients undergoing GT. The patients meeting the National Comprehensive Cancer Network (NCCN) guidelines for GT were more likely to undergo GT. Testing was performed with a 67- to 84-gene panel, together with an 8- to 9-gene STAT panel if needed. Among 120 patients with reports available, including 33 patients previously tested, 15 (12%) were positive (1 BLM, 1 BRCA1, 3 BRCA2, 1 BRIP1, 1 CFTR, 1 CHEK2, 1 MUTYH, 1 PALB2, 1 PRSS1, 1 RAD50, 1 RET, and 2 TP53), 44 (37%) were negative, and 61 (51%) had an uncertain variant. The median time to STAT results (n = 50) was 8 days. The STAT results were available before surgery for 47 (98%) of the 48 STAT patients undergoing surgery. CONCLUSIONS: New BC patients attending the MDBC demonstrated high rates of acceptance of GC and GT. The combination of GC and GT can offer timely information critical to patient risk assessment and treatment planning.

Partial pneumonectomy of telomerase null mice carrying shortened telomeres initiates cell growth arrest resulting in a limited compensatory growth response.

Telomerase mutations and significantly shortened chromosomal telomeres have recently been implicated in human lung pathologies. Natural telomere shortening is an inevitable consequence of aging, which is also a risk factor for development of lung disease. However, the impact of shortened telomeres and telomerase dysfunction on the ability of lung cells to respond to significant challenge is still largely unknown. We have previously shown that lungs of late generation, telomerase null B6.Cg-Terc(tm1Rdp) mice feature alveolar simplification and chronic stress signaling at baseline, a phenocopy of aged lung. To determine the role telomerase plays when the lung is challenged, B6.Cg-Terc(tm1Rdp) mice carrying shortened telomeres and wild-type controls were subjected to partial pneumonectomy. We found that telomerase activity was strongly induced in alveolar epithelial type 2 cells (AEC2) of the remaining lung immediately following surgery. Eighty-six percent of wild-type animals survived the procedure and exhibited a burst of early compensatory growth marked by upregulation of proliferation, stress response, and DNA repair pathways in AEC2. In B6.Cg-Terc(tm1Rdp) mice carrying shortened telomeres, response to pneumonectomy was characterized by decreased survival, diminished compensatory lung growth, attenuated distal lung progenitor cell response, persistent DNA damage, and cell growth arrest. Overall, survival correlated strongly with telomere length. We conclude that functional telomerase and properly maintained telomeres play key roles in both long-term survival and the early phase of compensatory lung growth following partial pneumonectomy.