Personalizing Patient Care

Family history: Still relevant in the genomics era

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ABSTRACTEven at the dawn of the genomics era, the family history is still very relevant, being a proxy for genetic, environmental, and behavioral risks to health. The family history can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment. This review aims to re-energize our use of the family history in primary care practice.


  • The family history is an underused tool for predicting the risk of disease and for personalizing preventive care.
  • Barriers to the appropriate collection and use of the family history include concerns over the reliability of patient reporting, a lack of time and reimbursement, and provider knowledge gaps.
  • Use of family history to inform genetic testing for hereditary cancer syndromes has been shown to improve outcomes and may reduce overall health care costs.
  • Future solutions need to focus on creating time-effective ways to collect and analyze the family history, and on developing innovative methods of educating medical providers at all levels of training as to how to apply the family history in clinical practice.



At the dawn of the genomics era, is the family history still relevant? The answer is a resounding yes.1,2

The family history is clinically useful because it is a proxy for genetic, environmental, and behavioral risks to health. It can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment.3–8 As people live longer, we will need to detect common chronic conditions early in their course so that we can continue to improve health outcomes. Family history can help physicians personalize preventive care for conditions such as diabetes, osteoporosis, and cancers of the breast, colon, and prostate.2,9–15

However, there is ample evidence that the family history is underused. Most practitioners ask about it infrequently and inconsistently.16,17 Why is this, and how can we encourage the use of this powerful tool to enhance our daily clinical practice and improve care?

We will discuss here some of the challenges that make it difficult for physicians to collect and use the family history in clinical practice, and review strategies for collecting and using the family history in a more consistent manner. We anticipate that this discussion will be helpful to clinicians, as the family history is an essential input to personalized, preventive care plans.


A question that often arises when discussing the utility of the family history is the reliability of patients’ reports. Can we trust that patients can accurately report their family history? For many conditions, the answer is yes.18,19

Ziogas and Anton-Culverl20 asked 1,111 cancer patients whether their relatives had ever had cancer and verified their answers. In more than 95% of cases, if the patient said that a first-degree or second-degree relative did not have cancer of any type, that relative truly did not have cancer. Overall, over-reporting of cancer was rare, occurring in 2.4% of cases.

If the patient said that a relative did have cancer, that statement was usually true as well. The reliability of a report of cancer in first-degree relatives was greater than 75% for most types of cancer (female breast, ovarian, esophageal, colorectal, pancreas, lung, melanoma, brain, thyroid, lymphoma, leukemia). For several of these types of cancer (female breast, colorectal, and brain), the reliability was 90% or higher. For second-degree relatives, the reliability of a reported positive history was moderate (50% to 80%) for the same types of cancer, and for third-degree relatives, the reliability dropped further for all types of cancer except female breast, brain, pancreas, and leukemia, for which the reliability of a positive report remained at 70%.

Wideroff et al21 had similar findings in a study of more than 1,000 patients and more than 20,000 of their relatives.

Yoon et al,18 at the US Centers for Disease Control and Prevention, developed a Web-based risk-assessment tool called Family Healthware, currently undergoing validation trials. They found that patients’ reports were highly reliable for coronary heart disease, stroke, diabetes, and breast, ovarian, and colorectal cancers. They also calculated the degree of risk associated with a positive family history and the prevalence of a family history of each of these diseases.

For the primary care physician, these studies support the reliability of patients’ reports and provide guidance for targeting specific conditions when obtaining a family history.

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