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As precision medicine becomes a mainstay in health care, the use of health information technology (IT) platforms will play an important role in the delivery of services across the cancer care continuum. Currently, there is both limited understanding about perceptions of health IT tools and barriers to their use among cancer genetic counselors. We assessed open-ended responses from a survey conducted among 128 board-certified cancer genetic counselors in the United States. We evaluated the utility of ten health IT tools and perceived barriers to adoption. Responses about characteristics of health IT tools that influence current use (i.e., technology-specific challenges) were deductively analyzed using the diffusion of innovations (DOI) characteristics. Responses about cancer genetic counselors' perceived challenges to adopting health IT tools (i.e., discipline-specific challenges) were inductively coded using a thematic approach. DOI innovation characteristics included mixed perceptions about the relative advantage, complexity, compatibility, trialability, and observability of tools based on the type of tool and perceived end-user. One-third of participants indicated that they were considering adopting or switching health IT tools. Common barriers to adoption included no perceived need for change, lack of organizational infrastructure, cost, and lack of decision-making power. Our findings indicate that addressing barriers to use and adoption of health IT may allow for expansion of these tools among cancer genetic counselors. Integrating health IT is critical for enhancing cancer genetic counselors' capacity to address patient needs and realizing the potential of precision medicine.

Despite higher incidence and mortality of breast cancer among younger Black women, genetic testing outcomes remain severely understudied among Blacks. Past research on disclosure of genetic testing results to family members has disproportionately focused on White, educated, high socioeconomic status women. This study addresses this gap in knowledge by assessing (1) to whom Black women disclose genetic test results and (2) if patterns of disclosure vary based on test result (e.g., BRCA1/2 positive, negative, variant of uncertain significance [VUS]). Black women (N=149) with invasive breast cancer diagnosed age ≤50 years from 2009–2012 received free genetic testing through a prospective, population-based study. At 12 months post-testing, women reported with whom they shared their genetic test results. The exact test by binomial distribution was used to examine whether disclosure to female relatives was significantly greater than disclosure to male relatives, and logistic regression analyses tested for differences in disclosure to any female relative, any male relative, parents, siblings, children, and spouses by genetic test result. Most (77%) women disclosed their results to at least one family member. Disclosure to female relatives was significantly greater than disclosure to males (p0.12). Results suggest that in Black families, one benefit of genetic testing – to inform patients and their family with cancer risk information – is not being realized. To increase breast cancer preventive care among high-risk Black women, the oncology care team should prepare Black BRCA1/2 positive women to share genetic test results with family members and, in particular, their daughters.

Family health history (FHx) is one of the most important pieces of information available to help genetic counselors and other clinicians identify risk and prevent disease. Unfortunately, the collection of FHx from patients is often too time consuming to be done during a clinical visit. Fortunately, there are many electronic FHx tools designed to help patients gather and organize their own FHx information prior to a clinic visit. We conducted a review and analysis of electronic FHx tools to better understand what tools are available, to compare and contrast to each other, to highlight features of various tools, and to provide a foundation for future evaluation and comparisons across FHx tools. Through our analysis, we included and abstracted 17 patient-facing electronic FHx tools and explored these tools around four axes: organization information, family history collection and display, clinical data collected, and clinical workflow integration. We found a large number of differences among FHx tools, with no two the same. This paper provides a useful review for health care providers, researchers, and patient advocates interested in understanding the differences among the available patient-facing electronic FHx tools.

Although knowledge about genetic concepts is important for individuals to be active participants in medical technologies that use genetic science, limited information is available on knowledge about basic genetic concepts and terminology in African Americans. The purpose of this study was to evaluate knowledge about general genetic concepts and medical genetics terminology among African Americans and to identify factors having independent associations with knowledge. Participants were 109 adult African Americans enrolled in a study on attitudes about race, genetics, and smoking. The majority of respondents were knowledgeable about general genetic concepts, but were less knowledgeable about medical genetics terminology. Education was the only factor independently associated with knowledge about sporadic disorders in multivariate logistic regression analysis. Respondents with at least some college education were most likely to be knowledgeable about sporadic disorders (OR=2.70, 95% CI=1.10, 6.67, p=.03). The results of this study suggest that genetics education targeted to African Americans may need to focus on increasing understanding about technical concepts related to genetics.