About Us

10 years of Public Health Genomics at CDC
1997-2007

2.0 Projects of the National Public Health Genomics

Family History Public Health Initiative

Family history is known to be a risk factor for many chronic diseases—including coronary heart disease, cancer, and diabetes—but its use in preventive medicine has not been emphasized compared with modifiable risk factors such as smoking and diet. Although clinicians are trained to collect family health history, they often fail to do so because of lack of time, inadequate reimbursement, and a lack of skill in interpreting family history information. Using data from the U.S. Healthstyles 2004 survey, we reported that 96% of Americans believe that knowing their family history is important to their health, yet only 30% have ever tried to gather and organize their family health history.

Most common diseases result from the interactions of multiple environmental factors in complex patterns that, despite progress in sequencing the human genome, are unlikely to be understood fully in the near future. In the meantime, family health history can be used as a low-cost, low-tech “genomic tool” to capture the interaction of genetic, environmental, and behavioral factors in determining disease risk.

Family History Public Health Initiative

Recognizing the potential of family history for disease prevention and health promotion, NOPHG started the Family History Public Health Initiative in 2002. The purpose of this initiative is to ensure that family history is recognized as an important risk factor for common chronic diseases such as cancer and diabetes, and to promote its use in programs aimed at reducing the burden of these diseases in the U.S. population. Activities of this initiative include:

• Studies to assess the validity and utility of using family health history as a public health strategy,
  
• Collaborations with federal, state and local public health agencies, universities, and private and not-for-profit organizations to develop and implement campaigns to increase public awareness about the public health importance of family history and to improve and facilitate the use of family history information by health professionals, and
  
• Development and dissemination of family history resources and tools through the CDC website, printed publications, news media, conferences, meetings, workshops, and other venues.

Key Accomplishments

Development of Family Healthware™

One of the objectives of the national multi-disciplinary Working Group formed by NOPHG was to conduct an extensive review of existing family history tools and to develop criteria for the development of a new tool called Family HealthwareTM. This group consisted of experts in clinical genetics, behavioral science, health communication, preventive medicine, and epidemiology from the CDC, NIH, and other federal agencies, state public health programs, academia, and the health care community. Family Healthware™ would be used for assessing several levels of familial risk for common chronic diseases and to provide health advice according to risk level. The Working Group developed the following criteria for including diseases in the tool:

• Substantial public health burden,
  
• A clear case definition,
  
• High awareness of disease status among relatives,
  
• Accurately reported by relatives,
  
• Family history found to be an established risk factor,
  
• Population prevalence of family history as a risk factor can be estimated,
  
• Effective interventions exist for primary and secondary prevention, and
  
• Different recommendations according to familial risk groups may be possible.

The Working Group selected six diseases (coronary heart disease, stroke, diabetes, and colorectal, breast, and ovarian cancer), and worked with a major commercial communications firm and a software development company to develop the data collection instrument, risk algorithms, and patient report for Family Healthware™.

Family Healthware™ was completed in September 2005. This web-based tool provides users with a familial risk assessment and a “prevention plan” containing personalized recommendations for lifestyle changes and screening recommendations. The tool collects data from the users on health behaviors (e.g., smoking and exercise), screening tests (e.g., blood cholesterol and mammography), and disease history of first- and second-degree relatives. A first set of algorithms assesses the familial risk for each disease. A second set of algorithms uses the familial risk combined with self-reported data on health behaviors and screening results to generate personalized prevention messages.

The goal was to gather the minimum amount of information to classify people into risk groups. The current underlying scheme classifies individuals into 3 risk groups – average, moderate, and high. These categories are determined mainly by the number and type of relatives affected as well as their age at disease onset (Scheuner MT, et al. Am J Med Genet 1997; 71: 315-324.) The risk classification can be used to guide and inform prevention activities. People at average risk would be encouraged to adhere to standard public health recommendations for maintaining good health. People with an increased risk (high or moderate) could be given more personalized prevention recommendations such as more intense lifestyle changes or the adoption of early detection strategies. People at high risk could also be referred to a genetic counselor or other appropriate specialist.

Evaluation Study of the Family Healthware™ Tool

In 2005, NOPHG awarded funding to three research centers at the University of Michigan School of Medicine, Evanston Northwestern Healthcare Research Institute, and Case Western Reserve University School of Medicine to evaluate the clinical utility of the Family Healthware™ tool. These universities are working with a network of primary care practices to determine if personalized prevention messages according to familial risk will motivate people at risk to change their lifestyle or screening behaviors within six months of using Family Healthware™. The study began enrolling patients in December 2005, and data collection was completed in fall 2007.

Campaign for National Family History Day

NOPHG collaborated with DHHS on the Surgeon General’s Family History Initiative, which is a national campaign that marked Thanksgiving as National Family History Day and included the development of a web-based tool called “My Family Health Portrait”— a simplified version of CDC’s Family HealthwareTM. CDC delivered packets of family history resource materials to chronic disease and genetics experts in health departments of every U.S. state and territory. These materials were designed to assist local health departments in their efforts to educate people about the importance of collecting their family health history. In addition, CDC developed a family history website for the public, at http://www.cdc.gov/genomics/famhistory/index.htm, that includes fact sheets, presentations, case studies, news articles, relevant links, and other resources.

Family History Products

CDC collaborated with the American Academy of Family Physicians (AAFP) to develop web-based modules on family history for the Annual Clinical Focus (ACF) on Genomics.

 

NOPHG developed a brochure on family history of diabetes. The brochure was developed at a 6th-8th grade literacy level and is available in English and Spanish. The brochure is accessible through NOPHG’s website: http://www.cdc.gov/genomics/famhistory/index.htm

Current Activities

• The evaluation of Family Healthware™ is currently in its final stages (data editing and reporting of baseline results, collection of follow-up data). Six manuscripts are in preparation, one of which will cover the methodology and design of the study. The other manuscripts will cover health risk perceptions according to family history for the chronic conditions included in Family Healthware™.
  
• The Family History Initiative will use NHANES data to assess the contribution of family history to the risk of some chronic diseases in the U.S. population. A manuscript on family history and risk of diabetes in the U.S. population has been accepted for publication and a manuscript on osteoporosis is under CDC clearance. Basically, the common method in these manuscripts is to stratify the U.S. population in three levels of familial risk (average, moderate, and high) and then test the association of this stratification with the prevalence of the disease. In diabetes, for example, a high familial risk is highly associated with a high prevalence of diabetes.
  
• A methods paper on the development of Family Healthware™ is being completed.
  
• The Family History Team, in collaboration with the Michigan Center for Public Health and Community Genetics, developed the Family History Project to analyze the legal and privacy issues affecting the use of family history information by clinicians, public health practitioners, and the general public. A guide addressing these issues for consumers and health care providers and a manuscript are in progress.

Next Steps

In the immediate future, the Family History Initiative will focus on 1) continuing the examination of familial risk for common chronic diseases in the U.S. population; 2) publishing and disseminating the results of the evaluation of the Family Healthware™ tool; 3) promoting the inclusion of more detailed family history questions in large health surveys routinely conducted by CDC and other entities; 4) collaborating with other CDC and HHS units for the inclusion of family history as another risk factor to consider in public health campaigns aimed at reducing the burden of disease.

Long-term plans for the Family History Initiative are to promote 1) the use of Family Healthware™ in research, public health practice, and primary care settings; 2) a more general use of family history in the assessment of risk for chronic diseases (for example, by improving the algorithms currently used to assess risk for diabetes, heart disease, and cancer); 3) a more formal use of family history in the health care system (for example, making family history part of electronic medical records).

 

Selected Publications

1. Yoon PW, Scheuner MT, et al. Can family history be used as a tool for public health and preventive medicine? Genet Med 2002; 4(4):304-310.
   
2. Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med 2003;24(2):128-135.
   
3. Hunt SC, Gwinn M, Adams TD. Family History Assessment : Strategies for Prevention of Cardiovascular Disease. Am J Prev Med 2003;24:136-142.
   
4. McCusker ME, Yoon PW, Gwinn M, et al. Family History and Cardiovascular Disease Risk-Reducing Behaviors. Genet Med 2004;6(3):153-158.
   
5. Yoon PW, Scheuner MT, Gwinn M, et al. Awareness of family health history as a risk factor for disease, United States, 2004. MMWR 2004; 53:1044-1047.
   
6. Hariri S, Yoon PW, Qureshi N, et al. Family history of type 2 diabetes: a population-based screening tool for prevention? Genet Med 2006 Feb;8(2):102-8.
   
7. Ramsey SD, Yoon PW, Moonesinghe R , et al. Population-based Study of the Prevalence of Family History of Cancer: Implications for Cancer Screening and Prevention. Genet Med 2006 Sep;8(9):571-5.
   
8. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, et al. Expanding the definition of a positive family history for early-onset coronary heart disease. Genet Med 2006;8(8):491-501.
   
9. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, et al. Familial risk assessment for early-onset coronary heart disease. Genet Med 2006;8(80:525-31.
   
10. Hariri S, Yoon PW, Moonesinghe R, et al. Evaluation of family history as a risk factor and screening tool for detecting undiagnosed diabetes in a nationally representative survey population. Genet Med. 2006 Dec;8(12):752-759.
11. Valdez R, Greenlund K, Yoon PW. Is family history a useful tool to detect children at risk for chronic disease and to enrich prevention campaigns aimed at the pediatric population? Pediatrics (in press).
    
12. Scheuner MT and Yoon PW. The use of family history in clinical medicine and public health. In: Handbook of Genomic Medicine. Willard H, Ginsburg G, eds. New York: ELSEVIER (in press).
13. Valdez R, Yoon PW, Liu T, Khoury MJ. Family history and prevalence of diabetes in the U.S. population: 6-year results from the National Health and Nutrition Examination Survey (NHANES, 1999-2004). Diabetes Care (in press).

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