Reevaluating the Role of Family History in Predicting Disease Risk

New Genetics and Society, 2010

NIH consensus and state-of-the-science statements, 2009

Institutes of Health consensus and state-of-thescience statements are prepared by independent panels of health professionals and public representatives on the basis of 1) the results of a systematic literature review prepared under contract with the Agency for Healthcare Research and Quality (AHRQ); 2) presentations by investigators working in areas relevant to the conference questions during a 2-day public session; 3) questions and statements from conference attendees during open discussion periods that are part of the public session; and 4) closed deliberations by the panel during the remainder of the second day and morning of the third. This statement is an independent report of the panel and is not a policy statement of the National Institutes of Health or the U.S. government. The statement reflects the panel's assessment of medical knowledge available at the time the statement was written. Thus, it provides a "snapshot in time" of the state of knowledge on the conference topic. When reading the statement, keep in mind that new knowledge is inevitably accumulating through medical research. Many common diseases have genetic, environmental, and lifestyle antecedents that family members share, and health care professionals in the United States have long used family history information as a risk assessment tool. In addition, most hereditary diseases have been elucidated through the study of families. A person's family history has the potential to capture information about shared factors that contribute to risk for common diseases, such as diabetes, stroke, cancer, and heart disease. Family history is also used routinely in many other ways, including its welldefined use in determining who might benefit from genetic testing and its use in the interpretation of genetic test results. The combination of these attributes makes the systematic collection of family history a potentially important step in personalizing health care. Several tools are in development to allow family history information to be effectively incorporated into health information technology systems, including electronic health records, personal health record systems, and family history risk assessment tools. Understanding the scientific foundation of family history is important if clinical decision aids (based on the information) are to be useful to clinicians and persons in typical practice settings and in improving clinical outcomes. Although the term family history is commonly used, it does not have a common definition-that is, various clinicians and patients understand it differently. Available family history questionnaires include information about a wide range of genetic, social, cultural, and environmental factors. Furthermore, family history questions may be embedded in complex risk assessment tools that incorporate many other demographic and health factors. Moreover, the definition of family varies when viewed from the perspectives of geneticists, generalist and specialist clinicians, family therapists, and members of some ethnic and cultural groups. The accuracy of patient-provided information is limited by a person's awareness, understanding, recollection, and willingness to disclose health issues of family members. The expected use of information from family history and the ex

Annual Review of Public Health, 2010

This report describes the use of information emerging from genetic discovery to motivate risk-reducing health behaviors. Most research to date has evaluated the effects of information related to rare genetic variants on screening behaviors, in which genetic risk feedback has been associated consistently with improved screening adherence. The limited research with common genetic variants suggests that genetic information, when based on single-gene variants with low-risk probabilities, has little impact on behavior. The effect on behavioral outcomes of more realistic testing scenarios in which genetic risk is based on numerous genetic variants is largely unexplored. Little attention has been directed to matching genetic information to the literacy levels of target audiences. Another promising area for research is consideration of using genetic information to identify risk shared within kinship networks and to expand the influence of behavior change beyond the individual.

Genetics in Medicine, 2010

for the Family Healthware TM Impact Trial (FHITr) Group Purpose: To determine whether family medical history as a risk factor for six common diseases is related to patients' perceptions of risk, worry, and control over getting these diseases. Methods: We used data from the cluster-randomized, controlled Family Healthware TM Impact Trial (FHITr). At baseline, healthy primary care patients reported their perceptions about coronary heart disease, stroke, diabetes, and breast, ovarian, and colon cancers. Immediately afterward, intervention group participants used Family Healthware TM to record family medical history; this web-based tool stratified familial disease risks. Multivariate and multilevel regression analyses measured the association between familial risk and patient perceptions for each disease, controlling for personal health and demographics. Results: For the 2330 participants who used Family Healthware TM immediately after providing baseline data, perceived risk and worry for each disease were strongly associated with family history risk, adjusting for personal risk factors. The magnitude of the effect of family history on perceived risk ranged from 0.35 standard deviation for ovarian cancer to 1.12 standard deviations for colon cancer. Family history was not related to perceived control over developing diseases. Risk perceptions seemed optimistically biased, with 48 -79% of participants with increased familial risk for diseases reporting that they were at average risk or below. Conclusions: Participants' ratings of their risk for developing common diseases, before feedback on familial risk, parallels but is often lower than their calculated risk based on family history. Having a family history of a disease increases its salience and does not change one's perceived ability to prevent the disease. Genet Med 2010:12(4): 212-218.

Annals of Behavioral Medicine, 2010

Increased availability of genetic risk information may lead the public to give precedence to genetic causation over behavioral/environmental factors, decreasing motivation for behavior change. Few population-based data inform these concerns. We assess the association of family history, behavioral risks, and causal attributions for diseases and the perceived value of pursuing information emphasizing health habits or genes. 1,959 healthy adults completed a survey that assessed behavioral risk factors, family history, causal attributions of eight diseases, and health information preferences. Participants' causal beliefs favored health behaviors over genetics. Interest in behavioral information was higher than in genetic information. As behavioral risk factors increased, inclination toward genetic explanations increased; interest in how health habits affect disease risk decreased. Those at greatest need for behavior change may hold attributions that diminish interest in information for behavior change. Enhancing understanding of geneenvironment influences could be explored to increase engagement with health information.

American Journal of Preventive Medicine, 2009

Health Psychology, 2009

Objective: Genetic tests vary in their prediction of disease occurrence, with some mutations conferring relatively low risk and others indicating near certainty. The authors assessed how increments in absolute risk of disease influence risk perceptions, interest, and expected consequences of genetic tests for diseases of varying severity. Design: Adults (N ϭ 752), recruited from New Zealand, Australia, and the United Kingdom for an online analogue study, were randomly assigned to receive information about a test of genetic risk for diabetes, heart disease, colon cancer, or lung cancer. The lifetime risk varied across conditions by 10% increments, from 20% to 100%. Main Outcome Measures: Participants completed measures of perceived likelihood of disease for individuals with mutations, risk-related affect, interest, and testing consequences. Results: Analyses revealed two increment clusters yielding differences in likelihood perceptions: A "moderate-risk" cluster (20%-70%), and a "high-risk" cluster (80%-100%). Risk increment influenced anticipated worry, feelings of risk, testing-induced distress, and family obligations, with nonlinear patterns including disproportionately high responses for the 50% increment. Risk increment did not alter testing interest or perceived benefits. These patterns of effects held across the four diseases. Conclusion: Magnitude of risk from genetic testing has a nonlinear influence on risk-related appraisals and affect but is unrelated to test interest.

American Journal of Medical Genetics, 2003

Archives of Pediatrics & Adolescent Medicine, 2008

To evaluate the effect of the genetic risk information source (family history vs genetic test results) on parents' concern about their own and their children's genetic disease risk. Design: Randomized trial using a Web-enabled survey.

Journal of Immunology, 2003

The aim of this article is threefold. First, we describe the accuracy of people's risk perception who have been screened on familial hypercholesterolemia (FH) in a family-based screening program. Second, we identify factors that modify risk perception. Finally, we show the influence of risk perception on subsequent preventive behavior. The risk perception of 556 screenees (677 participants, overall response = 82%) was measured by postal questionnaires on three occasions: at screening and 3 days and 7 months after the test result was reported to the patient. Presentation of the risk was precategorized and given both as numerical (1 in x) and as verbal probability. In addition, medication use and attitudes toward gene therapy were determined 7 months after screening. On average, the screenees underestimated their numeric risk of having FH and getting a myocardial infarction (MI). Furthermore, FH-positive screenees perceived that they were at greater risk of MI than FH negatives, and screenees with the highest actual risk used medication more, perceived a greater risk, and opted more often for future gene therapy. Risk perception of having FH was influenced by cholesterol level, while MI risk perception was affected by age, education, cholesterol level, and cardiovascular disease (CVD) in the family. We conclude that FH-positive screenees correctly perceive a higher risk of getting a heart attack than do FH-negative screenees. Screenees did not believe that MI was inevitable, and risk perception was associated with both medication use and the intention to opt for gene therapy, but not with other preventive measures. Thus, genetic risk notification seems to be acceptable and does not lead to aversion to preventive behavior. © 2002 Wiley-Liss, Inc.