A Failure to Communicate: Patients Misunderstand Cancer Genetic Testing

Maurie Markman, MD
Published Online: Tuesday, July 30, 2013
Maurie Markman, MD

Maurie Markman, MD

Editor-in-Chief of OncologyLive

Senior vice president for Clinical Affairs and National Director for Medical Oncology

Cancer Treatment Centers of America, Eastern Regional Medical Center

The role of individual cancer patients in the design of their own management plans has undergone rather profound changes over the past several decades. Today, the patient is appropriately considered by all parties to be a genuine partner in all major decisions. For example, it should be inconceivable in the United States today for a woman with a breast mass to be taken to surgery without a prior diagnosis of cancer and be told for the first time at the completion of the procedure that: (a) she has cancer and (b) the surgeon performed a radical mastectomy because he/ she determined this was the best course of action.

Yet, questions about how well the patient-empowered paradigm is working abound. Optimal implementation of this paradigm mandates that individuals possess a certain degree of basic knowledge of their illness and specific medical issues such as tumor stage, implications of prior treatment, and comorbidities, as well as information related to potentially relevant therapeutic options. It is also recognized that all such communication must be provided at a level consistent with the patients' and/or their personal advisers’ educational background in a manner that appreciates both cultural issues and any unique circumstances (eg, presence of acute anxiety, depressive symptoms, or financial and family concerns) that may be present when the discussion occurs.

Further, the sources and types of information available to patients have undergone as much change over the past decade as the question of the fundamental decision-making rights of patients. No longer is it solely the physician who determines what data are relevant in any discussion with a patient regarding treatment options. From interactions with support and advocacy groups to the explosion of information about almost every conceivable topic on the Internet, patients with cancer and their families can, depending on their available time and personal resources, elect to seek essentially as much input as they might desire.

However, considering the complexity of cancer management and the speed at which new approaches are introduced into clinical practice or at least discussed in the media (including prior to becoming a component of routine medical care), it is important to inquire how effectively these data are being translated into accurate and useful information for the patient.

Consider, for example, the revolutionary changes in our understanding of potentially highly clinically relevant molecular abnormalities in individual cancers and the speed at which such information enters the nonscientific public domain. When an oncologist initiates a discussion of testing for the presence of these alterations within a given cancer, what basic level of knowledge does the average patient bring into this discussion of genetic testing?

Unfortunately, the results of one recent survey of 69 cancer patients about their knowledge of the term personalized medicine and their corresponding understanding of somatic genetic testing to guide antineoplastic therapy are not reassuring with regard to a basic understanding of the intent of such efforts.1 The median age of the surveyed population, which included several tumors types, was 59 years. Approximately 40% of the participants were college graduates, with an additional 28% having at least some college education. Of interest, at least 70% of the patients had previously undergone some form of genetic testing, but it was not necessarily clear that these individuals had been informed in any detail regarding the purpose of prior testing.

Forty-six percent of the participants stated they were unaware of the term personalized medicine, and 23% had never heard of cancer genetic testing. Sixty percent of the group defined genetic testing to be an examination of the risk of cancer while only 12% stated this strategy was related to a search for tumor-related DNA or proteins.

Further, only one-half of the patient sample understood that testing of the tumor in this manner could possibly help an individual patient in the selection of an appropriate treatment plan, including participation in clinical trials. In addition, a number of patients identified somatic tumor testing to be useful in cancer prevention/motivating a change in behavior (22%) or for early detection (13%) when, realistically, knowledge of germline abnormalities or polymorphisms rather than somatic mutations would potentially play a far greater role in these areas.

Finally, a number of individuals expressed concerns regarding genetic discrimination, the impact of information on the family, the lack of clear evidence of benefit for the strategy, and the potential for completely incidental findings that might lead to additional unnecessary testing.

The wide range of issues identified even within this limited sample size suggests there is much to learn to optimally communicate with patients regarding the potential benefits and recognized theoretical risks associated with molecular testing, either for somatic or germline abnormalities, or normal polymorphisms. Since it is virtually certain there will be even greater use of tumor molecular testing in the future, it will be critical that patients clearly understand the purpose of this strategy, the realistic potential for benefit, and the theoretical risk of unanticipated harm.

Reference
1. Gray SW, Hicks-Courant K, Lathan CS, et al. Attitudes of patients with cancer about personalized medicine and somatic genetic testing [published online ahead of print August 7, 2012]. J Oncol Pract. 2012;8(6):329-335, 2 p following 335.


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