Infant mortality is tracked annually worldwide. Knowledge of causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. As a result, rates of many causes of infant mortality have declined significantly over the past 50 years. The proposed research team has pioneered a new way to decrease infant morbidity and mortality associated with 14,000 genetic diseases, called genomic medicine: In it, genome sequencing can provide a genetic disease diagnosis in as little as 19 hours. Early genetic disease diagnosis in seriously ill infants allows empiric initial treatment to be replaced with specific evidence-based treatment for that condition. In 9 studies of 681 seriously ill children, genomic sequencing diagnosed 31%, 21% had consequent changes in treatment, and 13% had changes in outcome. As a result, genomic medicine is gaining broad acceptance in seriously ill infants. However, for genomic medicine to decrease infant morbidity and mortality maximally and to anticipate the value of genetic diagnoses, it is critical to determine the leading genetic causes of infant mortality in the context of other environmental factors. We propose to use genome sequencing and semi-automated interpretation to identify genetic diseases associated with 1,000 infant deaths in San Diego County between 2015 and 2022 and to evaluate potential environmental contributions to those same infant deaths. We will identify potentially preventable infant deaths by determining those deaths associated with specific genetic diseases for which targeted interventions are known to reduce mortality. This new knowledge will enable policymakers, researchers, and clinicians to prioritize those diseases for investments in new, life-saving interventions and treatments.

Public Health Relevance

Infant mortality is one of the leading indicators of a nation's health. Knowledge of causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. The proposed multidisciplinary research team will build on our pioneering work in genomic medicine to identify as yet unknown genetic causes of infant mortality in 1,000 consecutive infant deaths in San Diego County, and will explore environmental contributors to those same deaths to inform future strategies for prevention and intervention.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD101540-02
Application #
10129987
Study Section
Infectious Diseases, Reproductive Health, Asthma and Pulmonary Conditions Study Section (IRAP)
Program Officer
Koso-Thomas, Marion
Project Start
2020-04-01
Project End
2025-01-31
Budget Start
2021-02-01
Budget End
2022-01-31
Support Year
2
Fiscal Year
2021
Total Cost
Indirect Cost
Name
Rady Pediatric Genomics & Systems Medicine Institute
Department
Type
DUNS #
136123085
City
San Diego
State
CA
Country
United States
Zip Code
92123