he prospect of improved clinical outcomes and more efficient health systems has fueled a rapid rise in the development and evaluation of AI systems over the last decade. Because most AI systems within healthcare are complex interventions designed as clinical decision support systems, rather than autonomous agents, the interactions among the AI systems, their users and the implementation environments are defining components of the AI interventions' overall potential effectiveness. Therefore, bringing AI systems from mathematical performance to clinical utility needs an adapted, stepwise implementation and evaluation pathway, addressing the complexity of this collaboration between two independent forms of intelligence, beyond measures of effectiveness alone 1 . Despite indications that some AI-based algorithms now match the accuracy of human experts within preclinical in silico studies 2 , there
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.
Clinical genetic testing for BRCA1 and BRCA2 has become available in the past 15 years, and it has been established that female BRCA carriers have a high lifetime risk to develop both breast and ovarian cancer. Predisposition testing makes it possible to predict risk in families and to tailor medical management accordingly. In addition to close surveillance, prophylactic mastectomy and oophorectomy are primary risk reduction strategies offered to BRCA carriers. Although the emphasis of research thus far has been on the efficacy of surveillance and risk reduction strategies, it has become clear that genetic testing and the resulting medical decisions around risk reduction lead to a unique set of emotional, physical, and sexual issues for female BRCA carriers and their children. This article will focus on those issues in unaffected female BRCA carriers.
The field of endocrine genetics is growing exponentially and testing will likely play an even greater role in surveillance, medical management, and surgical decision-making in the next decade. Genetic counseling both pretesting and posttesting is essential to accurate, cost-efficient care for the endocrine patient and the entire family.
In the version of this article initially published, a list of the DECIDE-AI expert group members and their affiliations was omitted and has now been included in the HTML and PDF versions of the article.
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