Adverse Events in Cancer Genetic Testing

Abstract

After repeated media attention in 2013 due to the Angelina Jolie disclosure and the Supreme Court decision to ban gene patents, the demand for cancer genetic counseling and testing services has never been greater. Debate has arisen regarding who should provide such services and the quality of genetics services being offered. In this ongoing case series, we document 35 new cases from 7 states (California, Connecticut, Florida, Georgia, Missouri, Pennsylvania, and Utah) and the District of Columbia of adverse outcomes in cancer genetic testing when performed without the involvement of a certified genetic counselor. We identified 3 major themes of errors: wrong genetic tests ordered, genetic test results misinterpreted, and inadequate genetic counseling. Patient morbidity and mortality were an issue in several of these cases. The complexity of cancer genetic testing and counseling has grown exponentially with the advent of multigene panels that include rare genes and the potential for more variants of uncertain significance. We conclude that genetic counseling and testing should be offered by certified genetics providers to minimize the risks, maximize the benefits, and utilize health care dollars most efficiently.

Movement of Genetic Counselors from Clinical to Non‐clinical Positions: Identifying Driving Forces

“…However, previous studies have shown that medical students and non-genetics physicians may not have the genetics knowledge that is considered important for healthcare providers, nor are they comfortable ordering genetic tests (Baars et al 2005;Douma et al 2015;Marzuillo et al 2013;Salm et al 2014). This raises concerns about the quality of patient care that may be provided by nongenetics professionals (Bonadies et al 2014;Cragun et al 2014;Vadaparampil et al 2014). Unfortunately, GCs, the individuals specifically trained to interpret and communicate complex genetic results, are leaving the clinical field.…”

The current state of cancer genetic counseling access and availability

“…2 In addition, there is research demonstrating patient harm in the absence of high-quality genetic services accompanying genetic testing. [3][4][5][6] However, perception of limited access to and availability of cancer genetic counseling services by a board-eligible or board-certified genetic counselor (GC) has the potential to form an unnecessary barrier to comprehensive genetic risk assessment, counseling, and testing. In this report we outline the current state of access to genetic counseling, including evidence from a recent survey of GCs focused on wait time for urgent consultations.…”

A Comparison of Telephone Genetic Counseling and In‐Person Genetic Counseling from the Genetic Counselor's Perspective

“…This could lead to other providers with no specialized training in genetics taking on the responsibility of genetic testing, test interpretation and counseling. Such a situation may not be ideal since there have been several reports of adverse patient outcomes when non-genetics providers incorrectly ordered and interpreted genetic testing results and/or provided inadequate genetic counseling (Bensend et al 2013;Bonadies et al 2014;Brierley et al 2010Brierley et al , 2012. Additionally, although there is no clear evidence that the existing genetic counseling workforce cannot meet the demand for services even with the increased availability of genetic testing, the geographic distribution of genetic counselors is limited, particularly in some rural areas of the country (National Society of Genetic Counselors 2014).…”