Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.

Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.

Investigating the impact of screen-sharing visual aids during genomic results disclosure via telehealth in diverse families in the TeleKidSeq pilot study.

Purpose: 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 session 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.

Perceptions of healthcare workers on linkage between depression and hypertension in northern Ghana: a qualitative study.

Hypertension and depression are increasingly common noncommunicable diseases in Ghana and worldwide, yet both are poorly controlled. We sought to understand how healthcare workers in rural Ghana conceptualize the interaction between hypertension and depression, and how care for these two conditions might best be integrated. We conducted a qualitative descriptive study involving in-depth interviews with 34 healthcare workers in the Kassena-Nankana districts of the Upper East Region of Ghana.

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States.