Sabrina A. Suckiel

Introduction: Telehealth genetic counseling is comparable to in-person visits in terms of satisfaction, knowledge, and psychological outcomes, but using visual aids can be challenging on telehealth platforms. This pilot study assessed if the “screen-sharing” feature via Zoom to display visual aids during results disclosure sessions positively impacted parental experience and comprehension of their child’s genomic results, especially in underrepresented groups and those with limited English proficiency. Methods: In the TeleKidSeq pilot study, 409 children with suspected genetic conditions underwent genome sequencing. Families were randomized to receive genomic results via televisits with (ScrS) or without (NScrS) screen-sharing of visual aids. Spanish- or English-speaking parents/legal guardians completed surveys at three time points to assess perceived and objective understanding, perceived confidence, and telehealth experience. Regression models evaluated the effect of screen-sharing over time. Results: Overall, understanding and telehealth experience ratings were high, with no significant differences between the ScrS (N = 192) and NScrS (N = 200) arms with regard to perceived (p = 0.32) or objective (p = 0.94) understanding, confidence (p = 0.14) over time, or telehealth experience (p = 0.10). When stratifying by sociodemographic characteristics and type of device used during results disclosure, we observed subtle differences in the effect of screen-sharing within some subgroups. Conclusion: While screen-sharing had no significant impact on overall outcomes, we identified modest effects of screen-sharing within population groups that highlight the need for tailored communication strategies to ensure diverse, multilingual communities derive equitable benefit from telehealth-based genomic results disclosure. Future research is needed to determine whether certain types of visual aids best enhance genomic results disclosure in larger, more robust studies designed to detect smaller effects and subgroup differences.

Background: Digital solutions are needed to support rapid increases in the application of genetic and genomic tests (GT) in diverse clinical settings and patient populations. We developed GUÍA, a bi-lingual web-based platform that facilitates disclosure of GT results. The NYCKidSeq randomized controlled trial evaluated GUÍA’s impact on understanding of GT results. Methods: NYCKidSeq enrolled diverse children with neurologic, cardiac, and immunologic conditions who underwent GT. Families were randomized to genetic counseling with GUÍA (intervention) or standard of care (SOC) genetic counseling for results disclosure. Parents/legal guardians (participants) completed surveys at baseline, post-results disclosure, and 6-months later. Survey measures assessed the primary study outcomes of perceived understanding of and confidence in explaining their child’s GT results and the secondary outcome of objective understanding. We used regression models to evaluate the association between the intervention and the study outcomes. Results: The analysis included 551 participants, 270 in the GUÍA arm and 281 in SOC. Participants’ mean age was 41.1 years and 88.6% were mothers. Most participants were Hispanic/Latino(a) (46.3%), White/European American (24.5%), or Black/African American (15.8%). Participants in the GUÍA arm had significantly higher perceived understanding post-results (OR=2.8, CI[1.004,7.617], P =0.049) and maintained higher objective understanding over time (OR=1.1, CI[1.004, 1.127], P =0.038) compared to those in the SOC arm. There was no impact on perceived confidence. Hispanic/Latino(a) individuals in the GUÍA arm maintained higher perceived understanding (OR=3.9, CI[1.6, 9.3], P =0.003), confidence (OR=2.7, CI[1.021, 7.277], P =0.046), and objective understanding (OR=1.1, CI[1.009, 1.212], P =0.032) compared to SOC. Conclusions: This trial demonstrates that GUÍA positively impacts understanding of GT results in diverse parents of children with suspected genetic conditions. These findings build a case for utilizing GUÍA to deliver complex and often ambiguous genetic results. Continued development and evaluation of digital applications in diverse populations are critical for equitably scaling GT offerings in specialty clinics.

Background: Genomic testing is increasingly employed in clinical, research, educational, and commercial contexts. Genomic literacy is a prerequisite for the effective application of genomic testing, creating a corresponding need for validated tools to assess genomics knowledge. We sought to develop a reliable measure of genomics knowledge that incorporates modern genomic technologies and is informative for individuals with diverse backgrounds, including those with clinical/life sciences training. Methods: We developed the GKnowM Genomics Knowledge Scale to assess the knowledge needed to make an informed decision for genomic testing, appropriately apply genomic technologies and participate in civic decision-making. We administered the 30-item draft measure to a calibration cohort (n = 1,234) and subsequent participants to create a combined validation cohort (n = 2,405). We performed a multistage psychometric calibration and validation using classical test theory and item response theory (IRT) and conducted a post-hoc simulation study to evaluate the suitability of a computerized adaptive testing (CAT) implementation. Results: Based on exploratory factor analysis, we removed 4 of the 30 draft items. The resulting 26-item GKnowM measure has a single dominant factor. The scale internal consistency is α = 0.85, and the IRT 3-PL model demonstrated good overall and item fit. Validity is demonstrated with significant correlation (r = 0.61) with an existing genomics knowledge measure and significantly higher scores for individuals with adequate health literacy and healthcare providers (HCPs), including HCPs who work with genomic testing. The item bank is well suited to CAT, achieving high accuracy (r = 0.97 with the full measure) while administering a mean of 13.5 items. Conclusion: GKnowM is an updated, broadly relevant, rigorously validated 26-item measure for assessing genomics knowledge that we anticipate will be useful for assessing population genomic literacy and evaluating the effectiveness of genomics educational interventions.