For more than 20 years since the completion of the Human Genome Project, basic and clinical research has promised to develop genomic applications that can help prevent and treat many diseases throughout their lifetime. However, efforts to ensure equal implementation of genomic applications have been reduced, especially in ethnic and ethnic minority groups, rural communities, insurance or low insurance individuals, and low education and income.
Feeling genomic pulse in the United States
In 2011, our office created a strong case for the importance of population -level data to detect progress in the implementation, results and differences in genomic medicines. Just as the physicians feel the patient’s pulse, give a physical examination, and order the Labo Laboratory test for the diagnosis and treatment of an individual, as well as the public health program to evaluate the distribution of precision issues, risk factors, and evidence -based interference and evaluate the surveillance system. These results are used to inform and evaluate health policies and programs, such as vaccine or health education campaigns. In 2014, 2014, our office introduced a framework to conduct a maximum health impact for emerging genomics and precision health requests to maximize health effects for acting for action in genomics. Tire 1 genomic applications are assisted by evidence -based guidelines, such as people belonging to the Task Force, such as the US Prevato Services Task Force, so that if effectively implemented, the disease and death can be reduced. Existing Tire 1 applications (for example tables) are capable of affecting millions of people in a lifetime. The following are examples of three cases that clarify the concept of data for action in public health genomics.
Hereditary breast and ovarian cancer
Since 2005, genetic test for variations in breast cancer 1 (BRCA 1) And breast cancer 2 (BRCA 2) The increasing risk of gene, hereditary breast and ovarian cancer, which can benefit from the precautionary interference to identify women, has been endorsed by evidence -based guidelines. Wee Wee, we assessed trends BRCA Testing and costs for women aged 18-64 from 2003 to 2014 using private claims data. Someone’s rate BRCA In 2013, the testing of women increased by 57 %, compared to an average of 11 % annually in 3 previous years. Percent of Payment Payment Women BRCA The test increased during 2013-2014, usually after 7 years of decline, according to the coverage of the affordable care act BRCA Genetic testing our analysis also did a less documentary BRCA Testing rate in nimmropolitan areas compared to metropolitan areas. Low test rates in the Nonatro Political Areas can reflect the difference in access to special care providers, including cancer genetic services providers. These data were used as part of the development of national and state -based cancer genomics programs to increase its implementation BRCA Testing in various sub -populations and informing of public health activities in the future.
Family Hypercolisolumia
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In 2013, a multi -sophisticated summit related to health care, healthcare, research, and advocacy communities developed an action plan to reduce the burden of disease and death from family hypercalletium. The project identifies several solutions that are widely focused around data for action. Most elements of the project have been implemented in the past decade, which has led to an increase in awareness and treatment with FH patients. A specific policy action was a 3 -year campaign of the Family Heart Foundation, which had a 3 -year campaign to finalize the family history of two FH -specific ICD 10 codes, FH evaluation (Code E -78.01) in 2016, as well as FH (Code Z 83.42). Earlier, the FH was not capable of monitoring, because the ICD 9 code for Deslapadia, such as code 272.0, was not specific to FH and usually applied to many people with high cholesterol in population. However, compared to clinical diagnostic standards, specific FH ICD-10 codes have recently been shown the low forecast price. In order to benefit the successful introduction of new specific ICD10 codes, the provider’s education will be necessary for the FH in the United States for events, spreads, treatment, results and disparity of population data.
Family Health Date
Despite the importance of family health history throughout a lifetime, especially two of the above -mentioned requests and many others, have been inadequate data on public awareness and collecting family health history. In 2004, our office conducted a national survey to understand and collect family health history. About 4,345 respondents (96.3 %) all considered the knowledge of family history very important or somewhat important to their health. However, very few individuals (1,296; 29.8 %) reported to be actively collecting information to promote family health history. People who collected the history of family health were more likely to be married, women, and before or at the moment, and more likely than high school education. Survey data provided a stimulus to initiate the National Family Health History move and to raise awareness for the Surgeon General’s My Family Health Portrait and to encourage the collection of family health history. As a result of these data, there have also been numerous research activities to understand obstacles and facilitators in the reservoir of family health history. Future communication and education measures need to be aware of obstacles and facilitators to collect and use information about family health history and include focus on health equity.
Moving forward
Our office is currently identifying the gaps in the effective implementation of tire 1 genomic applications. These include genetic testing the existing health and healthcare data sources for trends to track and discover and identify their basic assistants. These data exercises, programs and policy are more needed to fulfill the promise of genomics to improve population health and reduce health inequalities.
Your comments and input are always welcomed.
Examples of Table Tire 1 Genomic Applications
| The condition or request | Tire 1 clinical scenario (tongues) | Expected number of people affected in the United States |
|---|---|---|
| Hereditary breast and ovarian cancer syndrome | Genetic references and tests for those who meet the standard of personal and family history Fellow diagnostic to guide cancer treatment | 660,000 – 990,000 people living with hereditary breast and ovarian cancer |
| Lunch syndrome (hereditary colorectal cancer syndrome) | Tumor screening for individuals with newly diagnosed colorectal cancer | 1.2 million people living with lunch syndrome |
| Hereditary hemochemotosis | Genetic consulting and testing of people with specific family of people who have genetic diagnosis of hereditary hemochemotosis | Is associated with a jeney type hereditary hemochemotosis in more than 650,000 people |
| Family Hypercolisolumia | Low -density lipoprotein cholesterol levels, genetic test, or both of the first degree of relatives diagnosed with FH by measuring FH | 1.3 million people living with Family Hypercolisolium |
| Hypertrophic cardiomopathy | Genetic test for those who meet diagnostic standards for hypertrophic cardio myopathy | More than 660,000 people living with hypertrophic cardio myopathy |
| Screening of colorectal cancer | Screening individuals with an average threat to Coloretical Cancer using Stool DNA tests as one of the most recommended methods | 1.3 million people suffering from color cancer |
