Incidental Findings of Sickle Cell Trait From an Everyday Diabetes Test: Should General Health Care Providers and Testing Centers Report, Retest, or Refer?

Abstract

The hemoglobin A1c (A1C) test is increasingly used as a diagnostic and screening test for type 2 diabetes. With an estimated 8.8% of adults globally having diabetes, effective screening, diagnosis, and monitoring is of major global importance (1). The biomarker of A1C refers to glycated hemoglobin A molecules and has gained prominence in the diagnosis of type 2 diabetes because it offers certain advantages over plasma glucose testing regimens (2). It is well established that some of the hundreds of hemoglobin (Hb) variants, including the clinically relevant HbS, HbE, HbC, and HbD (3,4), may interfere with the validity of A1C results. Thus, testing strategies and tools employing A1C should ideally identify variants when they are present. Incidental findings of Hb variants present several ethical challenges for laboratories, health care providers, patients, and their families. These challenges have, to date, received little attention. This article reviews some of the advantages of detecting sickle cell trait, identified by the routine A1C test, but also several related ethical dilemmas. We explore issues such as whether informed consent is necessary, how the results should be communicated, how patients may be affected by knowing their carrier status, the timing of communications, complications caused by partial results, and the circumstance of being a “healthy carrier” while potentially experiencing symptoms. A multidisciplinary team and a patient diagnosed as a sickle cell carrier through the A1C test worked together to explore these ethical challenges to produce this article. We hope it will instigate discussion around the issues presented and ultimately lead to the development of appropriate international guidelines. Sickle Hb (HbS) is one of the most common Hb variants. Worldwide, an estimated 300 million people have sickle cell trait (SCT) and ∼4.4 million people have sickle cell disease (SCD), the overall name for a group …