As genetics becomes increasingly integrated into all areas of health care and the use of complex genetic tests continues to grow, the clinical genetics workforce will likely face greatly increased demand for its services. To inform strategic planning by health-care systems to prepare to meet this future demand, we performed a scoping review of the genetics workforce in high-income countries, summarizing all available evidence on its composition and capacity published between 2010 and 2019. Five databases (MEDLINE, Embase, PAIS, CINAHL, and Web of Science) and gray literature sources were searched, resulting in 162 unique studies being included in the review. The evidence presented includes the composition and size of the workforce, the scope of practice for genetics and nongenetics specialists, the time required to perform genetics-related tasks, case loads of genetics providers, and opportunities to increase efficiency and capacity. Our results indicate that there is currently a shortage of genetics providers and that there is a lack of consensus about the appropriate boundaries between the scopes of practice for genetics and nongenetics providers. Moreover, the results point to strategies that may be used to increase productivity and efficiency, including alternative service delivery models, streamlining processes, and the automation of tasks.

We sought to explore individuals' motivations for using their direct-to-consumer genetic testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool, and to assess understanding of, and reaction to their results. Using a crosssectional design, users of Impute.me who had already accessed PRS results were invited to complete an online questionnaire asking about demographics, motivations for seeking PRSs, understanding and interpretation of PRSs, and two validated scales regarding reactions to results-the Impact of Event Scale Revised (IES-R) and the Feelings About genomiC Testing Results (FACToR). Independent samples T-tests and ANOVA were used to explore associations between the variables. 227 individuals participated in the study. The most frequently reported motivation was general curiosity (98.2%). Only 25.6% of participants correctly answered all questions assessing understanding/interpretation of PRSs. Over half of participants (60.8%) experienced a negative reaction (upset, anxious, and/or sad on FACToR scale) after receiving their PRSs and 5.3% scored over the threshold for potential post-traumatic stress disorder on the IES-R. Lower understanding about PRS was associated with experiencing a negative psychological reaction (P values <0.001). Higher quality pre-test information, particularly to improve understanding, and manage expectations for PRS may be useful in limiting negative psychological reactions.

Providing recurrence numbers is often considered a fundamental component of genetic counseling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) pre (T1)/post (T2) appointment. Using analysis of covariance, we evaluated the effect on T2 GCOS score of: (1) receiving recurrence numbers and (2) patient perception of recurrence numbers. Recurrence numbers were a primary indication for 134/300 patients (45%). After counseling about etiology and risk-reducing strategies, 116 patients (39%) opted to receive recurrence numbers, with most (n = 64, 55%) perceiving the number to be lower than expected. There was no difference in T2 GCOS scores between those who: (1) received recurrence numbers vs those who did not, or (2) perceived the number to be lower than expected vs those with other perceptions. However, a subset of patients who did not receive recurrence numbers had larger increases in GCOS scores. Our data provide impetus to question the assumption that recurrence numbers should be routinely provided in genetic counseling, and show that in naturalistic practice, optimal patient outcomes are not contingent on receipt of recurrence numbers.

High-altitude natives employ numerous physiological strategies to survive and reproduce. However, the concomitant influence of altitude and physical activity during pregnancy has not been studied above 3,700 m. We report a case of physical activity, sleep behavior, and physiological measurements on a 28-yr-old third-trimester pregnant native highlander (Sherpa) during ascent from 3,440 m to Everest Base Camp (~5,300 m) over 8 days in the Nepal Himalaya and again ~10 mo postpartum during a similar ascent profile. The participant engaged in 250-300 min of moderate to vigorous physical activity per day during ascent to altitude while pregnant, with similar volumes of moderate to vigorous physical activity while postpartum. There were no apparent maternal, fetal, or neonatal complications related to the superimposition of the large volumes of physical activity at altitude. This report demonstrates a rare description of physical activity and ascent to high altitude during pregnancy and points to novel questions regarding the superimposition of pregnancy, altitude, and physical activity in high-altitude natives.

Driven by technological and scientific advances, the landscape of genetic medicine is rapidly changing, which complicates strategic planning and decision-making in this area. To address this uncertainty, we sought to understand genetic professionals' opinions about the future of clinical genetic and genomic services in Canada. We used the Delphi method to survey Canadian genetic professionals about their perspectives on whether scenarios about changes in service delivery and the use of genomic testing would be broadly implemented in their jurisdiction by 2030. We conducted two survey rounds; the response rates were 32% (27/ 84) and 67% (18/27), respectively. The most likely scenario was the universal use of noninvasive prenatal screening. The least likely scenarios involved population-based genome-wide sequencing for unaffected individuals. Overall, the scenarios perceived as most likely were those that have existing evidence about their benefit and potential medical necessity, whereas scenarios were seen as unlikely if they involved emerging technologies. Participants expected that the need for genetic healthcare services would increase by 2030 owing to changes in clinical guidelines and increased use of genome-wide sequencing. This study highlights the uncertainty in the future of genetic and genomic service provision and contributes evidence that could be used to inform strategic planning in clinical genetics.

Acute increases in blood glucose are associated with heightened muscle sympathetic nerve activity (MSNA). Animal studies have implicated a role for peripheral chemoreceptors in this response, but this has not been examined in humans. Heart rate, cardiac output (CO), mean arterial pressure (MAP), total peripheral conductance (TPC), and blood glucose (BG) concentrations were collected in 11 participants. MSNA was recorded in a subset of 5 participants via microneurography. Participants came to the lab on two separate days (i.e. one control and one experimental day). On both days, participants ingested 75g of glucose following baseline measurements. On the experimental day, participants breathed 100% oxygen for 3 minutes at baseline and again at 20, 40, and 60 min post glucose ingestion to deactivate peripheral chemoreceptors. Supplemental oxygen was not given to participants on the control day. There was a main effect of time on blood glucose (P<0.001), heart rate (P<0.001), CO (P<0.001), sympathetic burst frequency (P<0.001), burst incidence (P=0.01), and total MSNA (P=0.001) for both days. Blood glucose concentrations and burst frequency were positively correlated on the control day (r=0.42; P=0.03) and experimental day (r=0.62; P=0.003). There was a time x condition interaction (i.e. normoxia vs. hyperoxia) on burst frequency, in which hyperoxia significantly blunted burst frequency at 20 and 60 min post glucose ingestion only. Given that hyperoxia blunted burst frequency only during hyperglycemia, our results suggest that the peripheral chemoreceptors are involved in activating MSNA post glucose ingestion.

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