Genomics Alexandra Hayes

Genomics is the study of all the genes in a person, as well as the interactions of those genes with each other and a person’s physical and social environment. (CDC 2011)

All people are 99.9% identical in genetic makeup. The differences in the remaining 0.1% hold important clues about health and disease. (CDC 2011) The study of genomics helps doctors and others understand why some people get sick from certain infections and others while others do not(CDC 2011)

Genomics Genomics has a role in 9 out of the 10 leading causes of death in the United States Cancer and Heart disease are some of the most common causes of death that genomics has a role in. These diseases are partly the result of how genes interact with environmental and behavioral risk factors, such as diet and physical activity.

Family History Family health history is a written or graphic record of the diseases and health conditions present in your family. A useful family health history shows three generations of your biological relatives, the age at diagnosis, and the age and cause of death of deceased family members.

Family History Family history reflects individuals’ genes and the behaviors and environmental factors they share with their family members. Family history is a risk factor for many chronic diseases Having a close family member with a chronic disease can increase your risk of developing that disease

Family History People who have one or more parents, siblings, or children with diabetes are 2 to 6 times more likely to have the disease than are people with no affected relatives. (CDC 2011) Family history is also an established risk factor for CVD. In one large study, the 14% of families that had a known family history for heart disease accounted for 72% of cases of early heart disease (before age 55). (CDC 2011) Strong evidence shows that youth with a family history of CVD and diabetes already show signs of the diseases. (CDC 2011)

Genetic and genomic Testing Researchers have developed genetic tests for more than 2,200 diseases. (CDC 2011) Most tests look at single genes and are used to diagnose rare genetic disorders, such as fragile X syndrome.(CDC 2011) A growing number of tests look at multiple genes that may increase or decrease a person’s risk for common diseases, such as cancer or diabetes (CDC 2011) Cost range from under $100 to more than $2,000, depending the test (NIH 2012).

Genetic Testing Prospective parents may choose to be tested for certain genetic diseases to see if they are carriers. Parents may choose to identify and eliminate genetic defects in embryos created through in vitro fertilization (IVF) before pregnancy. All newborns are screened for 30 core disorders and 26 disorders

Genetic Testing Positive -Help to detect diseases earlier -Can help to prevent children from inheriting diseases from their parents. Negatives - Designer Babies? - Genetic discrimination

Prevention Know Family History Get tested for diseases that run in the family Take care of yourself, exercise and eat the health foods Genes are only one factor that contributes to sickness and disease

Research The Human Genome Project Population based research collects and analyzes human genetic data to help know more about the causes and effects of diseases for large groups of people Study of alleles and mutations of genes Epigenetics

Public Health Public health genomics is a multidisciplinary field focused on the effective and responsible translation of genome-based knowledge and technologies into public health and clinical practice to improve population health.(CDC 2011) Vision: To use genomic knowledge to prevent disease and improve health across the life stages. Mission: To integrate genomics into public health research, policy, and programs. Goals: To improve public health interventions of diseases of major public health importance, including chronic, infectious, environmental, and occupational diseases

Research Human genome epidemiology (HuGE) examines the role of genetics in disease and health and helps to identify links between genes and other factors, such as diet and environmental exposures, in populations Research in these areas can help us understand which populations might be more likely to develop disease as well as design interventions to improve treatment and health outcomes.

Translational Research Genomic translational research goal is to ensure that genomics knowledge and applications are safely and appropriately incorporated into prevention practices so individuals and populations can benefit. (CDC 2011) The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology

Translational Research/ Phases Phase 1 (T1) research seeks to move a basic genome- based discovery into a candidate health application Phase 2 (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines. Phase 3 (T3) research attempts to move evidence- based guidelines into health practice, various types of research. Phase 4 (T4) research seeks to evaluate the “real world” health outcomes of a genomic application in practice. (CDC 2011)

Translational Research Family History Education to Improve Genetic Risk Assessment for Cancer Promoting Cancer Genomics Best Practices through Surveillance, Education, and Policy Oregon Genomics Surveillance Program: Translation of Genomics Applications into Health Practice Planned a program to educate health care providers about the benefits of documenting patients’ family histories, identifying family history factors considered high risk, referring patients to genetic consultation, and using genetic testing.

Examples BRCA1 and BRCA2 are breast cancer genes Women with variations of these genes may have an increased risk for some types of breast and ovarian cancer BRCA testing looks for these variations, which help health care providers understand a person’s risk for getting these cancers. Using the BRCA guidelines researchers help to determine treatment practices.

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