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Genetic Conditions

Genes play an important role in our overall health

genetics illustration

Many of the most common diseases - including heart disease, high blood pressure and cancer - have a genetic component. There are also many kinds of childhood diseases and birth defects that can be passed from parent to child through our genes.

ScreenWise Genetics works to promote the health, well-being and quality of life of Oregonians using up-to-date knowledge of genomics through public health surveillance, policy development and education.

By studying the relationship between our genes, the environment, and our behaviors, researchers and practitioners can learn why some people get sick, while others do not. Better understanding of genetic and family history information can help identify and evaluate screening and other interventions that can improve health and prevent disease.

Do you know your family health history?

Keeping a family health history and sharing this information with your doctor and other family members can help you be proactive about your health.

Hereditary breast and ovarian cancer

If you have a family health history of breast or ovarian cancer, you may be more likely to get these cancers yourself. Collecting your family health history and sharing this information with your doctor can help you find out if you’re at higher risk. If so, you can take steps to lower your risk.

Tier 1 genomic conditions

The CDC has recognized the significant public health impact of identifying people with Tier 1 genomic conditions. 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. Almost 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 conditions1.

  • Hereditary Breast and Ovarian Cancer Syndrome (HBOC) – increased risk for breast, ovarian, tubal, peritoneal, and other cancers due to mutations in either BRCA gene;
  • 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.

Unfortunately, it is estimated that 90% of affected individuals are unaware of their risk2-5. Raising awareness of these conditions and promoting increased utilization of genetic services by individuals and families that meet evidence-based guidelines will lead to early detection and intervention could significantly reduce morbidity and mortality. Due to the public health burden of the diseases associated with these three Tier 1 conditions and because there are clear steps that can be followed to improve health and prevent disease it is important for at risk individuals and families to seek appropriate genetic services and it is crucial for health care providers to facilitate this process.

  1. CDC. Tier 1 Genomics Applications and their Importance to Public Health. Accessed January 2019.
  2. Hampel & de la Chapelle. The Search for Unaffected Individuals with Lynch Syndrome: Do the Ends Justify the Means? Cancer Prevention Research. 2011.
  3. Nordestgaard et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. European Heart Journal. 2013.
  4. Plichta et al. What’s New in Genetic Testing for Cancer Susceptibility? Oncology Journal. 2016.
  5. Drohan et al. Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers. Annals of Surgical Oncology. 2012.

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