Publications by authors named "J F Greally"
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.
Article Synopsis
- The study highlights how underrepresentation in clinical genomics research diminishes the relevance of findings and benefits, particularly emphasizing the importance of diverse participant inclusion.
- Researchers implemented patient-centered, data-driven strategies, such as using relatable and flexible recruitment methods, to ensure a diverse sample of parents and children in a pediatric genome sequencing study.
- As a result, a high percentage of eligible participants agreed to enroll (93.5% acceptance) and the majority of those who enrolled completed the study, demonstrating the effectiveness of engaging with underrepresented communities.
The detection of founder pathogenic variants, those observed in high frequency only in a group of individuals with increased inter-relatedness, can help improve delivery of health care for that community. We identified 16 groups with shared ancestry, based on genomic segments that are shared through identity by descent (IBD), in New York City using the genomic data of 25,366 residents from the All Of Us Research Program and the Mount Sinai Bio biobank. From these groups we defined 8 as founder populations, mostly communities currently under-represented in medical genomics research, such as Puerto Rican, Garifuna and Filipino/Pacific Islanders.
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- * Research identified that certain CD4+T cell subtypes in obese asthma patients are activated differently, showing upregulation of genes associated with inflammation and downregulation of the glucocorticoid receptor.
- * These changes in CD4+T cells contribute to poor lung function in obese asthmatic children, highlighting the unique characteristics of their immune responses.
Article Synopsis
- Vitamin D deficiency is widespread, particularly affecting women of childbearing age, and can increase the risk of immune problems in their children later in life.
- The study investigates how prenatal vitamin D deficiency impacts the immune cell makeup in offspring through experiments with vitamin D-deficient mice and analysis of data from 75 healthy pregnant women.
- Results show that low maternal vitamin D levels lead to changes in immune cell proportions in offspring, suggesting that the body retains a "memory" of prenatal vitamin D deficiency that affects immune development throughout life.