About the Toolkit
CDC developed the Tier 1 Genomic Applications Toolkit to assist state and local public health departments in implementing Tier 1 genomic applications. Tier 1 genomic applications have significant potential for positive impact on public health based on available evidence-based guidelines and recommendations and include a growing number of genomics tests and family health history applications. State and local health departments can work directly with clinical and public health organizations to implement Tier 1 genetic applications to identify those at risk and to ensure that these individuals have access to evidence-based interventions. These activities benefit from public health departments’ unique ability to partner, facilitate, and provide leadership across the health sector.
Presently, the Toolkit focuses on three Tier 1 applications. Nearly 2 million people in the United States are at increased risk for adverse health outcomes because they have one of the following conditions:
- Hereditary Breast and Ovarian Cancer Syndrome (HBOC): increased risk for breast, ovarian, tubal, peritoneal, and other cancers due to mutations in BRCA1 or BRCA2 genes
- Lynch syndrome (LS): increased risk for colorectal, endometrial, ovarian, and other cancers associated with mutations in mismatch-repair genes
- Familial hypercholesterolemia (FH): increased risk for heart disease or stroke due to mutations leading to very high cholesterol levels from an early age
Because, at present, these conditions are poorly ascertained by the healthcare system, many individuals and families affected by them are not aware that they are at risk. Early detection and intervention could significantly reduce morbidity and mortality. This toolkit currently focuses on these three applications because of the public health burden of the diseases associated with them and because there are clear steps that can be followed to improve health and prevent disease.
Resources in the Toolkit are organized according to these three conditions. Within each section, the Toolkit outlines different strategies modeled on existing or past state programs and includes materials developed by these states for their programs and resulting publications, as well as materials developed by CDC. Public health programs are encouraged to consider examples from states that have initiated programs to date, to work with partners to create or modify programs to fit their own states, and to report on their progress so that others may benefit.