Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants

Abstract

This systematic review examines how studies of genomic medicine among critically ill infants measure and report the utility of genetic testing.

Genomic Medicine’s Critical Outcome Measure—Utility

“…Research on personal utility centers patient and family perspectives on broad benefits and harms, often using qualitative methods. In contrast, clinical utility, which is the focus of the analysis by Callahan et al, 1 is usually assessed based on clinicians' perceptions of the effect of genomic sequencing on prognostication and care. Neither personal utility nor clinical utility alone tells the full story of the effects of genomic medicine.…”

“…Larger numbers of patients now have genetic sequencing performed as part of research cohorts and clinical care, allowing calculations of the average effect of the intervention; however, the influence of compelling individual patient stories on outcomes reporting remains. The case report tradition is reflected in the findings of Callahan and colleagues in 2 ways: investigators’ choice to highlight “exemplary cases of utility” within larger patient cohorts and the reporting of outcomes using study-specific, investigator-developed processes to assess utility. Given the potential for large, life-changing impacts for some patients, case reports are undoubtedly important to humanize data sets.…”

“…Discussions about outcomes of genomic medicine center on the construct of utility. Callahan et al reported findings from a systematic review of the literature on genomic medicine, which they define as genome or exome sequencing and associated care, for critically ill infants. Through a careful dissection of the ways in which genomic medicine utility has been prospectively measured, the review provides insight into how investigators have conceptualized and assessed utility in a specific, policy-relevant clinical context.…”

“…Through a careful dissection of the ways in which genomic medicine utility has been prospectively measured, the review provides insight into how investigators have conceptualized and assessed utility in a specific, policy-relevant clinical context. Callahan and colleagues found that nearly all the prospective studies included in their review reported evidence on utility according to their classification categories, indicating widespread acknowledgment of the importance of the outcome. However, they found considerable heterogeneity in terminology, domains measured, reporting transparency, and approaches to data collection among 21 included studies, indicating a lack of consensus on utility assessment in genomic medicine.…”

Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units

“…Critically ill infants admitted to neonatal intensive care units (NICUs) represent a population with high rates of genetic disorders and associated morbidity and mortality, and arguably have the greatest potential to benefit from GM, as early diagnosis is critical to optimizing the benefits of early tailored management, including a growing number of pioneering personalized therapies [ 2 ]. Genomic (exome or genome) sequencing (GS) has the potential to transform neonatal care, with multiple studies demonstrating diagnostic, clinical, personal, and informational utility for critically ill infants with underlying genetic disorders and their families [ 2 , 3 ]. However, the implementation of GM in clinical care thus far has arguably worsened health inequities, and strategies are urgently needed to achieve equitable access in this critical population [ 4 , 5 ].…”