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Wednesday, November 18, 2009

Breast Cancer Screening

Recent news discusses the controversy over new recommendations on breast cancer screenings. While the headlines focus on the changed recommendations, I’d rather pay attention to how interoperability healthcare IT can help to identify the at risk patients and enable them to receive the necessary care. I’ve asked my colleague Scott Bolte to cover the details for us, since this is one of his areas of both expertise and passion. Here's Scott on the topic:
Everyone hates feeling helpless and wants to be able control their life.  Rarely is that more true
then when facing cancer, or trying to avoid cancer in the first place. It isn’t surprising then, that changes in breast cancer screening recommendations have provoked passionate debate by clinicians, clinical associations, patient advocacy groups, and patients themselves.

Earlier this week the US Preventative Services Task Force (USPSTF) changed the recommended age for routine screening for breast cancer from age 40 to 50. There were other changes too, but that's the most dramatic one.  The USPSTF is the premier body in the United States for screening recommendations.  It greatly influences clinical practice and reimbursement guidelines.  However, their recommendation for change is not accepted by other authoritative organizations like the American Cancer Society (ACS).

I will not second-guess either the USPSTF or the ACS.  What I will do is point out that these recommendations are for large groups of individuals with average risk. If you go beyond the headlines, you will find that the USPSTF guidelines still explicitly recognize some people have a genetic predisposition to develop cancer and that the new guidelines do not apply to them.


Most people have heard of “cancer genes” like BRCA1 and BRCA2. Actually, everyone has the BRCA1 and BRCA2 genes. All genes naturally come in a variety of forms called alleles.  Some alleles are harmless.  They lead to no measurable difference, or differences in cosmetic features like the color of your eyes. Other alleles are more significant, determining how your body processes drugs for example. But the alleles that we're worried about here are for BRCA1/2 genes and how that changes the chance that you develop a disease like breast cancer.

The BRCA1/2 genes tend to dominate discussions about breast cancer, but they account for less than 10% of breast cancers.  Just because someone has breast cancer, even at an early age, they may not have a genetic predisposition.  There are effective tools to identify risks of developing breast cancer, and one of the most useful is a detailed family history.

The advantage of a family history is it reflects both genetics and environment. It can capture factors such as where you live - with corresponding exposure to environmental pollutions, the family dinner table, exercise habits, and other components that increase or decrease risk. It is the interplay of genetics and environment that ultimately determine if you develop cancer.

If the new guidelines leave you feeling exposed, especially if you have a sister or aunt who has had breast cancer, I strongly recommend you assemble a detailed family history. Use a free web tools such as My Family Health Portrait from the US Surgeon General to survey not just breast cancer, but all other cancers since they are often interrelated. That will capture not only the extent of all cancers in your family, it will also collect critical details like maternal vs. paternal relations, and the age of onset of the disease.

With the family history in hand, you and a trusted clinician can determine if additional genetic testing is appropriate. Whether it is or not, the open conversation about clinical risk - in the context of your personal tolerance for more or less testing - will determine if the new USPSTF guidelines are appropriate for you. Having an ongoing dialog with the clinician, and trusting them when they determine if your risk is high, low, or average, puts you back in control.
To follow up on Scott's posting, I'll add that in 2008, ANSI/HITSP developed the IS08 Personalized Healthcare Interoperability Specification for the communication of detailed family histories in response to the the Personalized Healthcare Use Case. This specification includes the necessary detail for communicating these family histories in a wide variety of clinical documents. Healthcare providers with access to this information can thus readily identify patients who are at high risk, and act accordingly.

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