Background and Aims-Patients with Lynch Syndrome have a high risk for colorectal adenomas and carcinomas. We evaluated the development of colorectal neoplasia in these patients.

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.

Public health initiatives encourage the public to discuss and record family health history (FHH) information, which can inform prevention and screening for a variety of conditions. Most research on FHH discussion and collection, however, has involved predominantly White participants and has not considered lay definitions of family or family communication patterns about health. This qualitative study of 32 African American women, 16 with a history of cancer, analyzed participants’ definitions of family, family communication about health, and collection of FHH information. “Family” was defined by biological relatedness, social ties, interactions, and proximity. Several participants noted using different definitions of family for different purposes (e.g. biomedical vs. social). Health discussions took place between and within generations and were influenced by structural relationships (e.g. sister) and characteristics of family members (e.g. trustworthiness). Participants described managing tensions between sharing health information and protecting privacy, especially related to generational differences in sharing information, fear of familial conflict or gossip, and denial (sometimes described as refusal to “own” or “claim” a disease). Few participants reported that anyone in their family kept formal FHH records. Results suggest FHH initiatives should address family tensions and communication patterns that affect discussion and collection of FHH information.

Little is known about African American women's collection of family health history (FHH) information and use of FHH tools. Most FHH research has investigated tools that use a biomedical paradigm, but other kinds of tools, such as those that include information about family social context, have been developed for use in diverse populations. Using mixed methods, we interviewed 32 African American women about behavioral steps to collecting FHH, family communication about health, and reactions to a biomedical FHH tool. Participants chose one of two FHH tools to take home. A follow-up call three weeks later assessed tool use. Many participants expressed support for writing down FHH information, but at baseline few had done so; most participants who had collected FHH information had done so verbally. Participants reacted positively to the biomedical FHH tool used during the interview, with many saying it allowed them to see patterns in their FHH. At follow-up, 67 % reported using their FHH tool, primarily to promote discussion among family members; only 32 % used the tool to write down FHH information. Although participants thought collecting FHH information was important and had positive reactions to both tools, the majority did not use the tools to write down information and instead collected FHH informally. These findings underline the importance of separating the components of FHH collection behaviors to analyze the steps used in FHH creation. Practitioners should consider additional methods of encouraging patients to create written FHHs in order to share the information with health care providers.