Emerging Evidence for the Benefits of Systematic Collection of Family History in Primary Care

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

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When it comes to the use of genomic tests and technologies in practice, Dr Al Berg is a skeptic. Dr Berg is the founding chair of the CDC-sponsored Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group that has been evaluating genomic tests for more than 5 years. He also chaired the National Institutes of Health State-of-the-Science Conference on family history. The EGAPP group has recommended only one genomic test for use in clinical practice among  a handful of tests they have assessed so far. The NIH conference found “insufficient evidence” for supporting systematic collection of family history in primary care.  Since then,  Dr Berg has repeatedly urged caution regarding claims that genetic tests and family history can improve health outcomes.

Dr Berg is the first to admit “how nice it is to be shown that I might be wrong on both counts by a single study”.  In the current issue of the Annals of Internal Medicine, Qureshi and collaborators report on the value of adding systematic collection of family history to assessment of heart disease risk. The authors found an increase in the number of persons identified as having high risk when family history was systematically collected.  The results suggest that in a clinical practice of an adult population of 5,000 people, we would find an additional 200 to 250 patients who were at high risk, many of whom might benefit from risk-lowering interventions. Although this one study did not evaluate health outcomes, it “strongly suggests that a well-conducted evaluation would have a good chance of demonstrating clinical benefit if fully implemented and followed for a sufficient time.”

Dr Berg further states: “The complex design and analysis were meticulously planned and rigorously executed… That this study was done at all speaks to the better support for high-quality research in primary care in the United Kingdom; finding support for a study like this would be extraordinarily difficult in the United States … I look forward to further research and quality improvement evaluations documenting clinical results, and I hope that more work in this clinical domain can be done in the United States.“

Indeed, the CDC Office of Public Health Genomics has taken this task very seriously for the past few years. Promoting the rigorous study of family history in clinical practice, the office designed a unique randomized clinical trial to evaluate the impact of collecting family history for 6 common chronic diseases on health behaviors, screening and clinical practice. This study has led to a number of recent publications, and more are to come.

Although we are the first to admit that family history is not a perfect tool , it is simple and when available can be very informative.  We agree with Dr Berg’s statement  “It is time to take systematic family history collection more seriously”

We welcome our readers’ thoughts and suggestions.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , , ,

3 comments on “Emerging Evidence for the Benefits of Systematic Collection of Family History in Primary Care”

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    Ah yes,
    Finally some evidence confirming some good clinical suspicion.
    Thanks Again Muin!

    Steve Murphy MD

    As a family physician trained in clinical genetics, when I got breast cancer, I did my three generational family history. I had known it ran in my mother’s family. The PA at my cancer center was totally overwhelmed with the info, only noting that I fit the criteria for BRCA I and II testing. My insurance wouldn’t pay. I moved, and my husband got new insurance. I met with a geneticist. He also recommended testing for PTEN, as I fit the criteria for a PTEN mutation given my personal history and history on my father’s side. We tested for all three genes, and I paid for promoter mutation testing of the PTEN gene. All tests were negative. Not helpful–au contraire, very helpful. Looking at the family history data alone, I would have elected for bilateral mastectomy. Knowing that there were no mutations in these major genes, I felt comfortable going with yearly screening.

    Although anecdotal, my story points out that consultation with a geneticist is worthwhile, and that negative results can be just as useful as positive ones. Additionally, an understanding of the family history was crucial in determining what gene testing should be done. There is still a possibility of a CHEK 2 mutation, or a mutation that is related to PTEN; I am looking at research protocols. As we get to genome sequencing, this combination of information will become even more important. How do we know if a mutation is deleterious if we don’t have a family history to support that?

    Further, I knew much of my history from my mother who is now deceased. It is crucial that we start encouraging patients to collect this information. Genealogists could be very helpful in this regard. Encouraging DNA banking is also important.

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Page last reviewed: April 8, 2024
Page last updated: April 8, 2024