lunes, 1 de octubre de 2012

Family Health History

Family Health History

Family Health History: Use It to Inform Preventive Services for Your Patients

Katherine Kolor, PhD
Posted: 09/24/2012


Family Health History

Hello. I am Dr. Katherine Kolor from the Office of Public Health Genomics at the Centers for Disease Control and Prevention. I am speaking to you as part of the CDC Expert Commentary Series on Medscape about the importance of collecting family health history information in your practice. I will use recommendations from the US Preventive Services Task Force (USPSTF) to illustrate how this information can inform preventive services for your patients.
The collection of family health history is routine in many healthcare settings. Family health history is a risk factor for a variety of chronic conditions for which effective screening and prevention tools are available. The USPSTF considers family health history in more than 20 of its current recommendations (Appendix), and family health history can affect the recommended practices of several USPSTF recommendations, including screening for lipid disorders in adults, colorectal cancer screening, and genetic evaluation for BRCA-associated hereditary breast and ovarian cancer. I will use these 3 USPSTF recommendations as case studies to demonstrate the utility of family health history information in practice and to illustrate the components of an informative family health history.

Screening for Lipid Disorders in Adults

Lipid disorders are acquired or familial abnormalities of lipoprotein metabolism and include elevations of total cholesterol, LDL cholesterol, triglycerides, or deficiencies of HDL cholesterol. The USPSTF strongly recommends screening men aged 35 and older for lipid disorders, and recommends screening men aged 20-35 for lipid disorders if they are at increased risk for coronary heart disease. The USPSTF strongly recommends screening women aged 45 and older for lipid disorders if they are at increased risk for coronary heart disease, and recommends screening women aged 20-45 for lipid disorders if they are at increased risk for coronary heart disease. A family history of cardiovascular disease before age 50 in male relatives or age 60 in female relatives is one of several factors that are sufficient to define increased risk for coronary heart disease. Although the specific relatives of interest are not defined in the recommendation, collecting information about cardiovascular disease in a patient's parents, grandparents and other first- and second-degree relatives, including age of onset, can be an important consideration when determining at what age screening for lipid disorders is recommended.

Colorectal Cancer Screening

The USPSTF recommends screening for colorectal cancer using fecal occult blood testing, sigmoidoscopy, or colonoscopy in adults, beginning at age 50 years and continuing until age 75 years. The recommendations specifically exclude those with the inherited syndromes (Lynch syndrome or familial adenomatous polyposis) but otherwise, the recommendations "do apply to those with first-degree relatives who have had colorectal adenomas or cancer." The recommendations state that for "those with first-degree relatives who developed cancer at a younger age or those with multiple affected first-degree relatives, an earlier start to screening may be reasonable." Although what constitutes a "younger age" and an "earlier start to screening" is not specified, your decision-making about colorectal cancer screening for your patient could be informed by collecting information on colorectal cancer for all first-degree relatives for whom the information is available, including age of onset.

Genetic Evaluation for BRCA-Associated Hereditary Breast and Ovarian Cancer

The USPSTF recommends that women whose family history is associated with an increased risk for deleterious mutations in BRCA1 or BRCA2 genes be referred for genetic counseling and evaluation for BRCA testing to inform risk-reducing interventions. Noting that there currently are no standardized referral criteria, the USPSTF listed specific family history patterns associated with increased risk, including, but not limited to:
  • Two first-degree relatives with breast cancer, with one diagnosed at age 50 years or younger;
  • A first- or second-degree relative with both breast and ovarian cancer at any age;
  • A history of breast cancer in a male relative; and
  • For women of Ashkenazi Jewish ancestry, any first-degree relative with breast or ovarian cancer.
To identify the patterns you will need to collect information on breast and ovarian cancer in first- and second-degree relatives (including males for breast cancer), age of onset, multiple primary cancers in a person, and Ashkenazi ancestry.
In closing, although gaps remain in the evidence supporting the use of family health history information in primary care, these 3 USPSTF case studies demonstrate that family health history can influence the USPSTF-recommended preventive services that you offer your patients. The information that is important for you to collect may vary depending on the health condition or disease of interest, but in general, the following items are of interest:
  • All first- and second-degree relatives for whom information is available;
  • Both the maternal and paternal sides of the family;
  • Age of onset of a health condition or disease of interest;
  • Atypical presentation, such as male breast cancer or multiple primary cancers; and
  • Ancestry, in certain circumstances.
Healthcare providers can collect and review family health history information in the full clinical context, including when offering USPSTF-recommended preventive services. The US Surgeon General offers the Web-based tool, My Family Health Portrait, which may be helpful to your patients in collecting their family history information in a form that they can share with their family members and healthcare providers. Thank you.
Web Resources
USPSTF Screening for Lipid Disorders in Adults.
USPSTF Screening for Colorectal Cancer.
USPSTF Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility.
US. Surgeon General. My Family Health Portrait.
Appendix: USPSTF Recommendations That Consider Family Health History
Katherine Kolor, PhD, CGC, is a health scientist in CDC's Office of Public Health Genomics (OPHG), which serves as the national focus for integration of genomics into public health research and programs for disease prevention and health promotion. Dr. Kolor joined OPHG in 2005, and currently serves as a senior scientific advisor for public health scientific policy, planning, and evaluation activities. Her efforts include assessing awareness and use of genetic tests among healthcare providers and the public through public health surveillance and surveys. Earlier in her career with OPHG, Dr. Kolor's efforts were focused on contributing to the EGAPP™ initiative to establish and test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology that are in transition from research into clinical and public health practice.
Dr. Kolor received her BS in Biology from the State University of New York at Albany, her PhD in Genetics from the University of Washington, and her MS in Human Genetics from Sarah Lawrence College. Dr. Kolor is a board-certified genetic counselor.

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