American College of Physicians: Internal Medicine — Doctors for Adults ®


Family history may be primary care's best genetic test

From the November/December ACP Observer, copyright 2007 by the American College of Physicians.

By W. Gregory Feero, MD, PhD

W. Gregory Feero, MD, PhDGenetic testing is already available, practical—even reimbursable. Primary care physicians don't have to wait for a huge leap in biotechnology for an inexpensive and non-invasive genetic test that can today detect a two- to threefold risk increase for diabetes, cardiovascular disease, stroke, colorectal cancer, breast cancer and ovarian cancer. In some individuals, the test can detect much higher disease risk for less common disorders like hemochromatosis, thrombophilia, and alpha-1 antitrypsin deficiency.

Furthermore, this test is available to anyone online and its total turnaround time is 20 minutes. It can provide a bonanza of succinct, legible, organized family health information and, although there is no there is no code for family history by itself, it is reimbursable through the use of time-based billing codes in the context of problem-focused visits.

The test wasn't developed by an up-and-coming biotech company. It's not even all that flashy. It's the U.S. Surgeon General's family history tool, My Family Health Portrait, available online.

Many experts maintain that family history is truly the single best genetic test available to primary care. Certainly it is the cheapest and most readily accessible. In addition to providing estimates of heritable disease risk, a careful family history can provide insights on family dynamics, shared environmental factors and patient health concerns.

For some providers, the family history serves as a jumping-off point for a broader discussion of disease screening. It allows the doctor to suggest colon cancer screening guidelines, for example, when a patient doesn't have a family history but is more than 50 years old. Outside of the screening environment, family history data can be used to guide differential diagnoses and even, occasionally, to inform prognoses.

In 2004, the U.S. Surgeon General designated every Thanksgiving as a day to remember and discuss family history in order to promote public awareness of its usefulness as a health tool. The National Human Genome Research Institute of the National Institutes of Health (NIH), as well as the CDC, the Health Resources and Services Administration and the Agency for Healthcare Research and Quality, have partnered with the Surgeon General's office on this project since its inception.

Physicians grounded in evidence-based medicine may ask whether taking a generic family history during routine visits improves health outcomes. Surprisingly, few studies have directly addressed this question. As with much in clinical medicine, doctors are guided largely by tradition. However, tradition is no longer an adequate way to practice in the setting of competing medical priorities.

The NIH is sponsoring an extensive examination of the literature and impartial review of the evidence through an upcoming "state-of-the-science" conference. The goal is to uncover evidence for the use of family history in primary care and to fill the gaps in our understanding of its use. However, doctors do not need to await such a review to know that for certain disorders—heart disease, diabetes and colon cancer—there are great benefits to using history information.

What if a patient could complete a family history tool at home and then securely transmit it directly to an electronic health record (EHR)? What if, when the physician opened the data for review, he or she found expert interpretation of the data along with guideline-based management options? What if the family history data was automatically integrated with genetic test data to bolster the predictive value of the information, and point to interventions tailored to the patient's individual genetic makeup?

Surprisingly, this level of capability in the EHR is not that far-fetched. Multiple federal and private organizations have been working collaboratively through the Personalized Health Care workgroup of the American Health Information Community (found online at to make this futuristic vision a fast-approaching reality. At least some EHR systems should have this type of advanced capability within the next five years.

In a time of microarrays and talk of full genome sequencing, family history remains a cornerstone of the concept of truly personalized medicine, and seems likely to become even more useful in the near future.

W. Gregory Feero, MD, PhD, a family physician with a doctorate in human genetics, is senior adviser for genomic medicine in the Office of the Director at the NIH's National Human Genome Research Institute.


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