Family History and Cancer — The Need to Update

Abstract & Commentary

By Rahul Gupta, MD, MPH, FACP, Clinical Assistant Professor, West Virginia University School of Medicine, Charleston, WV. Dr. Gupta reports no financial relationship relevant to this field of study.

Synopsis: Family history of cancer changes significantly between the ages of 30 and 50 years. Therefore, it is recommended that family history should be updated at least every 5 to 10 years to appropriately inform recommendations for cancer screening.

Source: Ziogas A, et al. Clinically relevant changes in family history of cancer over time. JAMA 2011;306:172-178.

Documenting the family history of a patient has been the core element of clinical care long before the practice of evidence-based medicine was even proposed. This is primarily based on the fact that many common diseases have genetic, environmental, and lifestyle predispositions that members of a family may share.1 Family history has such an important role in the practice of medicine that it may motivate positive lifestyle changes, enhance individual empowerment, and influence clinical interventions. Routine family history taking may also help in determining individuals who might benefit from genetic screening. While the meaning of family history may be interpreted broadly and variably depending on the specialty of the provider obtaining such, the intent remains the same — to identify diseases at the earliest possible stage in order to intervene.

Family history of diseases such as cancer is a traditional and commonly accepted risk assessment tool. However, much more attention is paid to new patients than established patients in a primary care practice. Often, family history in established patients is left untouched until patients themselves provide updates or request preventive screenings. Interestingly, not much literature currently exists addressing how often the family history of an established patient should be updated so as to be able to capture changes pertinent to recommend a change in cancer screenings for the individual patient.

In their study, Ziogas et al attempted to quantify how often clinically significant changes occur in the cancer family history of patients that would result in recommendations for earlier or more intense screening throughout adulthood. The authors examined family history longitudinal data in patients enrolled in the population-based Cancer Genetics Network (CGN) registry. Between 1999 and 2009, they examined baseline and follow-up family history data (self-reported) from 26,933 participants enrolled at 14 academic research centers across the United States. Changes in participants' self-reported family history over two periods were assessed: retrospectively (from birth until enrollment into the CGN) and prospectively (from enrollment to time of last completed follow-up survey). Changes in family history that would render individuals for earlier and more intense screening for colorectal, breast, or prostate cancer based on current guidelines from the American Cancer Society were specifically examined.

Retrospective analysis revealed that at age 30, 2.1% of participants would have met criteria for early colonoscopy screening whereas at age 50, this percentage increased to 7.1% and by age 70, it was at about 11%. Similarly, for breast cancer screening, the percentage of participants who would have met criteria for MRI screening were 7.2% of women at age 30 years, 11.4% at age 50 years, and after age 60 years, it leveled off at about 13%. The retrospective prostate cancer analysis demonstrated similar findings of increasing family history until age 60 years. However, the overall percentage of men who would have met criteria for early PSA screening was much lower at only 0.9%. In the prospective analysis, the numbers of participants who newly met criteria for high-risk screening based on family history per 100 persons followed up for 20 years were two for colorectal cancer, six for breast cancer, and eight for prostate cancer. The rate of change in cancer family history was similar for colorectal and breast cancer between both of the analyses. In this study, utilizing two different types of analyses (retrospective and prospective), both analyses demonstrated that clinically relevant family history changes substantially during early and middle adulthood, particularly for colorectal and breast cancer, in a way that the percentage recommended for high-risk screening increases 1.5- to 3-fold between ages 30 and 50 years. Limited data may have contributed to incongruent results of the prostate cancer analyses. In essence, the researchers found that family history of breast and colorectal cancer becomes increasingly relevant in early adulthood, highlighting the need to obtain a comprehensive family history at this time. Therefore, the authors recommend updating the family history at least every 5-10 years to appropriately inform recommendations for cancer screening.


Evidence-based guidelines often recommend that persons at elevated risk for certain cancers begin screening at a younger age than the general population and consider more sensitive screening tests. However, such guidelines are often written under the assumption that every individual provides to their physician the most updated and accurate family history at each visit. Clearly, this does not occur. So one asks the question — with so many clinical decision tools and assistance available through as many electronic health records (EHR) systems, who will maintain accurate and current history information that is the basis for screening recommendations? In the current study, the authors found a 5% chance that an individual's colorectal cancer screening recommendation would change between the ages of 30 and 50 years based on new family history and a 4% chance that women would be newly identified candidates for breast MRI. We must be reminded that these are potentially curable cancers if diagnosed early. While considerable research has demonstrated the accuracy of self-reported family history, effective "best practice" tools for collecting and utilizing the family history in a primary care practice have yet to be validated.2 However, until we reach a stage where EHR systems cannot only talk with each other but also across patients to capture the most accurate and relevant family history automatically, I agree with the authors that for those between 30-50 years of age, we need to update family history every 5-10 years.


1. Berg AO, et al. National Institutes of Health State-of-the-Science Conference statement: Family history and improving health. Ann Intern Med 2009;151:872-877.

2. Wilson B, et al. Systematic review: Family history in risk assessment for common diseases. Ann Intern Med 2009;151:878-885.