Last
Posted:
Aug 12, 2024
Highlights
Training Institute for Dissemination and Implementation Research in Genomics and Precision Public Health (TIDIR-GPPH) Facilitated Course
From the website: "The Training Institute for Dissemination and Implementation Research in Genomics and Precision Public Health (TIDIR-GPPH) Facilitated Course is being offered in 2024 and is open to all current ORISE fellows and mentors! The course is intended to provide participants with a thorough grounding in conducting dissemination and implementation (D&I) research with a specific focus on genomics and precision public health. TIDIR-GPPH will be a hybrid course including training through open access modules with assigned reading material and office hours and culminating with a 2-day in-person event (September 5-6, 2024)."
Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada
From the abstract: "Is diagnosis from genome-wide sequencing associated with reduced health care costs for children with suspected rare diseases? Findings: In this cohort study of 3 groups of children who underwent genome-wide sequencing in England (7775 children in a research study) or Canada (118 children who received publicly funded sequencing and 77 children in a research study), diagnosis from genome-wide sequencing was not associated with changes in health care or diagnostic costs. Meaning: These findings suggest that sustainable clinical implementation of genome-wide sequencing must be motivated by evidence of patient and family benefit and cost-effectiveness rather than promises of cost savings from earlier diagnosis. "
A new agenda for implementing population genomic screening
"Nearly a decade into the proliferation of population genomic screening programs, it is clear that such programs provide benefit in certain contexts. Determining whether these programs provide net positive outcomes across diverse populations, however, will require a significant shift in approach and scale. This shift can be modeled on a precision health research agenda that capitalizes on pragmatic and implementation science methods, learning health system principles, and stakeholder engagement. Acknowledging that research and clinical implementation must coexist will help us realize the promise of population genomic screening."
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
From the abstract: " Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the benefits of NBS by screening infants for a greater number and variety of childhood-onset conditions. This study aimed to describe who needs to do what, when, and for whom to deliver genomic newborn screening (gNBS) and capture perceived implementation barriers and enablers. ‘Key informants’ (individuals involved in the delivery of NBS) were interviewed. "
