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Improve health and prevent harm through valid and useful genomic tools in clinical and public health practices.


The new Genomics topic area and objectives for 2020 reflect the increasing scientific evidence supporting the health benefits of using genetic tests and family health history to guide clinical and public health interventions. The objectives are based on 2 recommendations from independent panels on genetic testing that were informed by thorough, systematic reviews of scientific evidence.
The first recommendation is from the U.S. Preventive Services Task Force (USPSTF):

Women with certain high-risk family health history patterns for breast, ovarian, tubal, or peritoneal cancer could benefit from receiving genetic counseling to learn about genetic testing for BRCA1/2. For women who have BRCA1/2 mutations, several interventions may reduce the risk of cancer, including surgery, medications, and earlier, more frequent or intensive screening. However, the strength of evidence varies across interventions. Surgery has the strongest evidence, potentially reducing breast cancer risk by 85% or more and ovarian cancer risk by 69% or more.1

The second recommendation is from the Evaluation of Genomic Applications in Practice and Prevention Working Group (EGAPP):

All people who are newly diagnosed with colorectal cancer should be offered testing for a hereditary form of colorectal cancer called Lynch syndrome. Family members could benefit from knowing whether they are at increased risk for colorectal cancer due to a history of Lynch syndrome in their family.2 Screening interventions could potentially reduce the risk of colorectal cancer among men and women with Lynch syndrome by about 60%.3,4

Why is Genomics Important?

Genomics plays a role in 9 of the 10 leading causes of death,5 including:
  • Heart disease
  • Cancer
  • Stroke
  • Diabetes
  • Alzheimer’s disease
Genetic tests for leading causes of death and disability are becoming available. Family health history features prominently in a number of evidence-based recommendations. The U.S. Food and Drug Administration (FDA) requires genetic testing to guide the use of many drugs. The Centers for Medicare & Medicaid Services (CMS) provides coverage for certain genetic tests.6 New evidence-based recommendations are expected as the scientific evidence on which tests and interventions have health benefits is strengthened.
Evidence-based recommendations, like the one from USPSTF, can have an impact on access and use of genetic services. The proportion of women with a family health history of breast or ovarian cancer who received genetic counseling increased from 34.6% to 52.9% from 2005 to 2010.7 In addition, the Affordable Care Act covers genetic counseling as a preventive service with no out-of-pocket costs for women who have a family health history consistent with increased risk for BRCA mutations.8

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Understanding Genomics

Traditionally, public health applications of genomics have focused on rare diseases, such as those identified through newborn screening programs. Much of the future promise of genomics rests on its application to common diseases.

Tens of thousands of genetic tests are currently available, including some available directly to consumers.9 Genetic tests have the potential to improve health in a variety of ways by informing health care through:
  • Risk prediction
  • Prevention
  • Diagnosis
  • Treatment, including choice of medication and dosage
  • Prognosis

On the other hand, genetic tests that are not valid or useful have the potential to cause harm by prompting inappropriate changes in medical care based on incomplete or incorrect information.

Family health history is an important risk factor for common diseases, independent from traditional risk factors. More than 50% of the population is at increased risk for diabetes, cancer, or heart disease because they have close relatives with 1 or more of these diseases. Family health history has the potential to improve health by finding people who are at risk for disease in the future or who are already sick but have not been diagnosed.10

Although the field of genomics is rapidly producing discoveries, there are a limited number of evidence-based recommendations for genetic tests and family health history tools. The existing recommendations, after translating them into practice, have the potential for improving health. In addition, more evaluation of the potential benefits and harms from the use of genomics is needed to guide the development of new recommendations.

Emerging Issues in Genomics

The Precision Medicine Initiative, launched in 2015, aims to promote health and treat disease by taking into account individual differences in people’s genes, environments, and lifestyles.11 As genomics discoveries lead to new opportunities to improve health through the use of genetic tests and family health history tools, 2 important challenges need to be addressed.
  1. It is becoming increasingly difficult for evidence-based, independent review panels to quickly and thoroughly evaluate the proposed health benefits and harms of the fast-growing number of genetic tests and family health history tools.
  2. As the number of recommended genetic tests increases, valid and reliable national data are needed to establish baseline measures and track progress toward targets. Many tests are recommended for use in small subpopulations, making it difficult for most national health information systems, such as the National Health Interview Survey (NHIS), to monitor progress. Traditional administrative data sources in the health care system offer new potential to track specific genetic tests in billing records with the introduction of current procedural terminology (CPT) codes for molecular genetic tests that were implemented beginning in 2012.

The development of new Healthy People objectives in genomics may be hindered by the limited availability of both evidence-based practice recommendations and national data to monitor progress.

The Future of Genomics in Public Health

Many opportunities and challenges for realizing the promise of genomics to improve health outcomes lie ahead, including:

  • Creating and evaluating scientific evidence to support valid and useful genetic tests and family health history tools
  • Developing evidence-based practice recommendations that evaluate the net health benefit of genetic tests and family health history tools
  • Conducting research on how to translate recommendations into practice
  • Facilitating the use of valid and useful genetic tests and family health history tools to guide clinical practice, policy, and national, state, and local programs to find people who are at risk for disease, make diagnoses, and provide appropriate interventions
  • Monitoring the use of genetic tests and family health history in populations, the health outcomes related to their use, and disparities in use and outcomes
  • Adding genomic information and clinical decision support tools to electronic health records
  • Incorporating health-related genomics education in primary, secondary, undergraduate, and graduate curricula
  • Assuring the privacy and confidentiality of genomic information
Addressing these issues will require the coordinated and collaborative efforts of both the public and private sectors.


1US Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014 Feb 18;160(4):271-81.

2Evaluation of Genomics Applications in Practice and Prevention (EGAPP) Working Group. Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009 Jan;11(1):35-41.

3Stupart DA, Goldberg PA, Algar U, et al. Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation. Colorectal Dis. 2009 Feb;11(2):126-30.

4Palomaki, G.E., McClain MR, Melillo S, et al., EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med, 2009. 11(1): p. 42-65.
5Leading Causes of Death [Internet]. Centers for Disease Control and Prevention [cited 2016 Aug 3]. Available from
6Dotson WD, Douglas MP, Kolor K, et al. Prioritizing genomic applications for action by level of evidence: a horizon-scanning method. Clin Pharmacol Ther. 2014 Apr;95(4):394-402.
7Healthy People 2020 Objective Data Search: Genomics [Internet] Healthy [cited 2016 Aug 3]] Available from:[0]=fie...
8Preventive Services Covered Under the Affordable Care Act [Internet]. U.S. Department of Health and Human Services [cited 2015 Aug 14]. Available from: 
9GTR: Genetic Test Registry [Internet]. National Center for Biotechnology Information, U.S. National Library of Medicine [cited 2015 Aug 14]. Available from:  
10Valdez R, Yoon PW, Qureshi N, et al. Family history in public health practice: A genomic tool for disease prevention and health promotion. Annu Rev Public Health. 2010 Apr 21;31:69-87.
11Precision Medicine: Improving Health and Preventing Disease. The White House [cited Aug 14]. Available from:

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