Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.

Introduction: Genomic medicine has features that make it preference sensitive and amenable to model-based health economic evaluation. Preferences of patients, caregivers, and clinicians related to the uptake and delivery of genomic medicine technologies and services that are not captured in health state utility weights can affect the intervention's cost-effectiveness and budget impact. However, there is currently no established or agreed-on approach for integrating preference information into economic evaluations.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

Heuristics Identified in Health Data-Sharing Preferences of Patients With Cancer: Qualitative Focus Group Study.

Background: Evaluating precision oncology outcomes requires access to real-world and clinical trial data. Access is based on consent, and consent is based on patients' informed preferences when deciding to share their data. Decision-making is often modeled using utility theory, but a complex decision context calls for a consideration of how heuristic, intuitive thought processes interact with rational utility maximization.

The impact of home-based call on sleep patterns and wellness in genetics and metabolism physicians compared with subspecialists.

Purpose: With increases in precision medicine initiatives and genetically defined rare diseases, the genetics and metabolism workforce is necessary to provide around-the-clock care for patients. Here, we describe the impact that home-based call has on the geneticist and metabolist workforce.

Methods: Physicians from 3 populations were self-identified (pediatric subspecialist, geneticist, metabolist) and completed a survey regarding the impact of home-based call service on their sleep and wellness.