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Background: The growing demand for genomic testing and limited access to experts necessitate innovative service models. While chatbots have shown promise in supporting genomic services like pre-test counseling, their use in returning positive genetic results, especially using the more recent large language models (LLMs) remains unexplored. Objective: This study reports the prompt engineering process and intrinsic evaluation of the LLM component of a chatbot designed to support returning positive population-wide genomic screening results. Methods: We used a three-step prompt engineering process, including Retrieval-Augmented Generation (RAG) and few-shot techniques to develop an open-response chatbot. This was then evaluated using two hypothetical scenarios, with experts rating its performance using a 5-point Likert scale across eight criteria: tone, clarity, program accuracy, domain accuracy, robustness, efficiency, boundaries, and usability. Results: The chatbot achieved an overall score of 3.88 out of 5 across all criteria and scenarios. The highest ratings were in Tone (4.25), Usability (4.25), and Boundary management (4.0), followed by Efficiency (3.88), Clarity and Robustness (3.81), and Domain Accuracy (3.63). The lowest-rated criterion was Program Accuracy, which scored 3.25. Discussion: The LLM handled open-ended queries and maintained boundaries, while the lower Program Accuracy rating indicates areas for improvement. Future work will focus on refining prompts, expanding evaluations, and exploring optimal hybrid chatbot designs that integrate LLM components with rule-based chatbot components to enhance genomic service delivery.

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INTRODUCTION: Limited data exist on the gross motor abilities of children with cystic fibrosis (CF). The objective of this research project was to implement a systematic gross motor assessment in children with CF ages 4-12 years. Secondarily, we aimed to assess demographic characteristics associated with gross motor delays. METHODS: Physical therapists aimed to evaluate at least 50% of eligible children (4-12 years) at our CF Center over 1 year using the Bruininks-Oseretsky Test of motor Proficiency, second edition (BOT-2). Delays are defined by scores less than 18th percentile. Demographic and clinical data included body mass index, hospitalizations, genotype, and comorbidities. Basic descriptive statistics summarized patient information. Parametric and nonparametric methods compared groups of interest. Linear regression assessed associations between BOT-2 measures and clinical characteristics. RESULTS: The BOT-2 evaluation was successfully implemented with 69% of eligible patients being evaluated. Forty-five (62.5%) scored below average. Impaired strength (22.2%) was most common, followed by impaired balance (16.7%), running speed and agility (15.3%), and bilateral coordination (8.3%). 15.5% scored below average on their total motor composite score (TMC). Increased age, comorbidities and hospitalizations were associated with a lower TMC. CONCLUSIONS: The BOT-2 was successfully implemented as part of routine CF care to screen for gross motor delays in children. Results suggest that a high percentage of children with CF, especially older children with comorbid conditions or a history of hospitalization, have impaired gross motor function. These findings support the need for routine gross motor evaluations and physical therapy interventions within pediatric CF clinics.

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Low serum 25-hydroxy vitamin D (25(OH)D) concentrations are associated with increased hip fracture risk and decreased femoral areal bone mineral density (BMD) among elderly men. Structural dimensions of the proximal femur and volumetric BMD in cortical and trabecular compartments are also associated with hip fracture risk. However, associations of volumetric BMD or structural dimensions with serum 25(OH)D concentrations among older men remain unclear. In a random sample of 1608 men aged ≥65 years from the Osteoporotic Fractures in Men Study (MrOS), baseline serum 25(OH)D concentrations were measured by liquid chromatography/mass spectrometry assays. Femoral neck geometry and volumetric BMD derived from quantitative computed tomography included integral, cortical, and trabecular volumetric BMD; cross-sectional area; integral and cortical volume; and cortical volume as a percent of integral volume. We studied 888 men with vitamin D, parathyroid hormone (PTH), femoral neck geometry, and BMD measures. Whole-bone femoral strength and load-strength ratio from finite element (FE) analysis were also available for 356 men from this sample. Multivariable linear regression was used to estimate least square means of each femoral measure within quartiles of 25(OH)D adjusted for age, race, body mass index, height, latitude, and season of blood draw. Tests of linear trend in the means were performed across increasing quartile of serum 25(OH)D levels. Mean cortical volume (p trend = 0.006) and cortical volume as a percent of integral volume (p trend < 0.001) increased across increasing quartile of 25(OH)D level. However, overall femoral neck size (area and integral volume) did not vary by 25(OH)D level. Femoral neck volumetric BMD measures increased in a graded manner with higher 25(OH)D levels (p trend < 0.001). Femoral strength, but not load-strength ratio, increased with increasing 25(OH)D. Adjustment for PTH did not materially change these associations. We conclude that in older men, higher levels of endogenous 25(OH)D may increase whole-bone strength by increasing femoral volumetric BMD and cortical volume.

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OBJECTIVE: Multiple studies have shown clear evidence of vitamin D's anti-tumor effects on prostate cancer cells in laboratory experiments, but the evidence has not been consistent in humans. We sought to examine the association between vitamin D and prostate cancer risk in a cohort of older men. METHODS: We conducted a prospective case-cohort study nested within the multicenter Osteoporotic Fractures in Men (MrOS) study. Baseline serum 25-OH vitamin D was measured in a randomly selected sub-cohort of 1,433 men > or = 65 years old without a history of prostate cancer and from all participants with an incident diagnosis of prostate cancer (n = 297). Cox proportional hazards models were used to evaluate the associations between quartiles of total 25-OH vitamin D and incident prostate cancer, as well as Gleason score. RESULTS: In comparison with the lowest quartile of 25-OH vitamin D, the hazard ratio for the highest quartile of 25-OH vitamin D was 1.22 (CI 0.50-1.72, p = 0.25), no trend across quartiles (p = 0.94) or association with Gleason score was observed. Adjustment for covariates did not alter the results. CONCLUSIONS: In this prospective cohort of older men, we found no association between serum 25-OH vitamin D levels and subsequent risk of prostate cancer.

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