This week the New York Times (editorial) again points to the realization that after 10 years of extensive research that has advanced scientific understanding of human genetics we are still a long way off from quantifiable clinical benefits. Importantly, the value of a family history in clinical practice has received much attention from NIH consensus panel and other opinion leaders in clinical medicine (report). However, recent data from Australia highlights just how large a gap we have between clinical recommendations and actual practice. This is not a problem limited to family history but the data point to the challenge of moving from recommendations to high quality care.
As Emery and colleagues note, a family history may aid in diagnosis, risk assessment, and preventive counseling for many chronic conditions. Review of charts for patients admitted to a tertiary care hospital in Australia showed that family history was recorded in only 16% of patient charts. Clearly, a major contributor to disease risk and a guide for identifying those who can gain substantially from preventive interventions was omitted from the majority of patient charts. This is not a problem limited to Australia, but rather these data reflect that lack of attention is too often focused on this important marker of disease risk that can be used to help focus prevention messages.
For all of us it is important to remember to bring our family history of disease to the attention of our primary care provider so that medical decisions and recommendations can take account of our genetic predisposition as summarized by our family history. For many cancers and other chronic disease the benefits of lifestyle changes and other prevention strategies give a greater reduction in total risk to those with a family history. This opportunity to reduce risk should not be missed.