Tier 1 Genomics Applications and their Importance to Public Health
Tier 1 genomic applications are defined by CDC’s Office of Public Health Genomics (OPHG) as those having significant potential for positive impact on public health based on available evidence-based guidelines and recommendations. Tier 1 applications are listed in the Genomic Tests and Family History by Levels of Evidence Table which includes a growing number of genomics tests and family health history applications.
Presently, this 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 genetic mutations which predispose them to 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 inBRCA1 or BRCA2 genes;
- Lynch syndrome (LS) – increased risk for colorectal, endometrial, ovarian, and other cancers associated with mutations in mismatch-repair genes; or
- 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; however, 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. 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.
The need for this toolkit and many of the action steps within it were discussed as a result of a working meeting of 80 experts and stakeholders representing federal, state, and local public health agencies, clinicians, key advocates and community leaders who came together in 2012 to develop Tier 1 implementation plans using the Health Impact Pyramid as a guide. The pyramid (see below) describes different health interventions with those at the base providing the greatest potential improvement for a given resource level and the critical importance that policy actions play in the practice of public health genomics at the state level. A report of the meeting is posted on the APHA Genomics Forum webpage.
HBOC 4|Tier 1 Genomic Applications Toolkit for Public Health Departments|Genomics|CDC
Hereditary Breast and Ovarian Cancer (HBOC) Tools
Tools for Bidirectional Cancer Registry Reporting to Identify Individuals at Risk for Hereditary Breast and Ovarian Cancer syndrome
The following materials were developed to support state programs using bidirectional cancer registry reporting to identify individuals at risk for Hereditary Breast and Ovarian Cancer syndrome. State health departments are encouraged to customize the materials to meet their needs. Materials are categorized by those intended for patients and for healthcare providers, but materials may be suitable for multiple audiences. Please note that some materials will need to be filled out with state-specific information, as noted below.
Information for Patients
- Hereditary Breast and Ovarian Cancer Syndrome: A Guide for Patients and Their Families
- Brochure on Talking to Your Family About Your Diagnosis of Hereditary Breast and Ovarian Cancer Syndrome
- Sample Letter for Informing Your Family Members about Your BRCA1 or BRCA2 Mutation[DOC 26.2 KB]
- List of Cancer Genetic Specialists for Your State or Region (Please note that state programs will need to complete this form.)
- What You Need to Know About Cancer Registries: Frequently Asked Questions for Patients and Their Families
Information for Providers
- Hereditary Breast and Ovarian Cancer Syndrome: Fact Sheet for Healthcare Professionals
- Evidence-based Practice Guidelines Supporting Genetic Susceptibility Testing for Hereditary Breast and Ovarian Cancer Syndrome
- Bidirectional cancer registry reporting to identify patients at high risk for hereditary cancer syndromes: what providers and institutions need to know
Video for educational outreach to providers and institutions in states that have bidirectional cancer registry reporting programs in place.
- Sample Hospital and Medical Center Cancer Genetics Data Report on Potential Hereditary Breast and Ovarian Cancer Syndrome-Related Cancers (Please note that state programs will need to complete this form.)
CDC Medscape Expert Commentary on Genetics and BRCA in Primary Care
CDC Medscape Expert Commentary on a Tiered Approach to Integrating Genomics Into Your Practice
CDC Blog: From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice
CDC Blog: Evidence Matters in Genomic Medicine—Round 3: Integrating Family Health History into Clinical Preventive Services
Video produced in partnership with CDC: Cascade Genetic Screening and Public Health Practice: An Idea Whose Time Has Come