Assessing the effectiveness of the National Comprehensive Cancer Network genetic testing guidelines in identifying African American breast cancer patients with deleterious genetic mutations.

PURPOSE: Approximately, 10% of breast cancers are hereditary. Identifying women at high risk for hereditary breast and ovarian cancer allows for early detection, prevention, and individualized disease management for those diagnosed with breast cancer. There is limited data about breast cancer genetic risks among African Americans as the majority of the large studies have been conducted in European Americans. We examined the distribution of deleterious genetic mutations in African American breast cancer patients, and evaluated the effectiveness of the National Comprehensive Cancer Network (NCCN) guidelines for identifying African American women at high risk for deleterious genetic mutations. METHODS: African American participants with breast cancer underwent an interview regarding health and family history, and a 30-gene saliva test. Medical records were accessed to determine whether participants had received prior genetic testing as part of usual care, results of previous testing, and cancer characteristics. RESULTS: Two hundred and fifty participants were enrolled between February 2016 and May 2018. Twenty (8.0%) had a deleterious mutation in one of the 30 genes; BRCA2 had the highest frequency (40.0%). 187 (74.8%) met eligibility for testing based on NCCN guidelines. Only 110 (58.8%) of participants eligible for genetic testing, according to guidelines, had received prior testing as part of routine care. Using the 30-gene test, we identified deleterious mutations in 17 of 187 (9.1%) of those who met NCCN criteria for testing, and three of 63 (4.8%) of those who did not meet criteria for testing nonetheless had a deleterious mutation associated with breast cancer. CONCLUSIONS: Our results indicate that a large proportion of African American breast cancer patients who meet criteria for genetic testing do not receive it as part of routine care. Even in women who do not meet testing guidelines, nearly 5% have a known deleterious mutation associated with breast cancer.

The significant impact of education, poverty, and race on Internet-based research participant engagement.

PURPOSE: Internet-based technologies are increasingly being used for research studies. However, it is not known whether Internet-based approaches will effectively engage participants from diverse racial and socioeconomic backgrounds. METHODS: A total of 967 participants were recruited and offered genetic ancestry results. We evaluated viewing Internet-based genetic ancestry results among participants who expressed high interest in obtaining the results. RESULTS: Of the participants, 64% stated that they were very or extremely interested in their genetic ancestry results. Among interested participants, individuals with a high school diploma (n = 473) viewed their results 19% of the time relative to 4% of the 145 participants without a diploma (P < 0.0001). Similarly, 22% of participants with household income above the federal poverty level (n = 286) viewed their results relative to 10% of the 314 participants living below the federal poverty level (P < 0.0001). Among interested participants both with a high school degree and living above the poverty level, self-identified Caucasians were more likely to view results than self-identified African Americans (P < 0.0001), and females were more likely to view results than males (P = 0.0007). CONCLUSION: In an underserved population, engagement in Internet-based research was low despite high reported interest. This suggests that explicit strategies should be developed to increase diversity in Internet-based research.Genet Med 19 2, 240-243.

In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community.

BACKGROUND: The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk Profile, or RiskProfile, leverages genetic and environmental information to communicate one's risk for smoking-related diseases. Although prior studies have examined attitudes toward genetic results, little research has investigated these perceptions through a lens of in-vivo testing; that is, user-centered design feedback in response to personalized genetic results being returned contemporaneously. This qualitative study engaged current smokers in usability testing of the RiskProfile within the context of concurrently receiving this personalized, genetically-informed smoking cessation intervention. METHODS: Eighty-nine participants who were current smokers responded to open-ended interview questions on perceptions of smoking-related genetic information and the content and format of the RiskProfile intervention that they had received moments before. Data were analyzed via the conventional content analysis approach in which themes were allowed to emerge throughout the analysis. RESULTS: Participants were able to reference and offer design input on specific elements of the RiskProfile. Overall, current smokers perceived the RiskProfile to have high potential utility. Constructive feedback that current smokers offered about the tool centered around suggested improvements to optimize its usability and technical content. CONCLUSIONS: The detailed and constructive feedback from participants highlights that in-vivo feedback offers a useful design approach that addresses concerns of rigor and relevance when returning genetic results. This unique method demonstrated perceived utility and constructive design feedback for the RiskProfile among current smokers and can play an important role in optimizing the design and implementation of personalized genetic risk interventions moving forward.

Proof of Concept of a Personalized Genetic Risk Tool to Promote Smoking Cessation: High Acceptability and Reduced Cigarette Smoking.

Relatively little is known about the possible effects of personalized genetic risk information on smoking, the leading preventable cause of morbidity and mortality. We examined the acceptability and potential behavior change associated with a personalized genetically informed risk tool (RiskProfile) among current smokers. Current smokers (n = 108) were enrolled in a pre-post study with three visits. At visit 1, participants completed a baseline assessment and genetic testing via 23andMe. Participants' raw genetic data (CHRNA5 variants) and smoking heaviness were used to create a tailored RiskProfile tool that communicated personalized risks of smoking-related diseases and evidence-based recommendations to promote cessation. Participants received their personalized RiskProfile intervention at visit 2, approximately 6 weeks later. Visit 3 involved a telephone-based follow-up assessment 30 days after intervention. Of enrolled participants, 83% were retained across the three visits. Immediately following intervention, acceptability of RiskProfile was high (M = 4.4; SD = 0.6 on scale of 1 to 5); at 30-day follow-up, 89% of participants demonstrated accurate recall of key intervention messages. In the full analysis set of this single-arm trial, cigarettes smoked per day decreased from intervention to 30-day follow-up [11.3 vs. 9.8; difference = 1.5; 95% confidence interval (0.6-2.4); P = 0.001]. A personalized genetically informed risk tool was found to be highly acceptable and associated with a reduction in smoking, although the absence of a control group must be addressed in future research. This study demonstrates proof of concept for translating key basic science findings into a genetically informed risk tool that was used to promote progress toward smoking cessation.Prevention Relevance: This study demonstrates that personal genetic information can be incorporated into a risk feedback tool that was highly acceptable to current smokers and associated with reductions in smoking. These findings may pave the way for effectiveness and implementation research on genetically-informed behavior change interventions to enhance cancer prevention efforts.

Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists.

PURPOSE: To determine if physicians' self-reported knowledge, attitudes, and practices regarding genetic counseling and testing (GCT) vary by patients' race. METHODS: We conducted a nationwide 49-item survey among breast oncology physicians in the United States. We queried respondents about their own demographics, clinical characteristics, knowledge, attitudes, practices, and perceived barriers in providing GCT to patients with breast cancer. RESULTS: Our survey included responses from 277 physicians (females, 58.8%; medical oncologists, 75.1%; academic physicians, 61.7%; and Whites, 67.1%). Only 1.8% indicated that they were more likely to refer a White patient than refer an African American patient for GCT, and 66.9% believed that African American women with breast cancer have lower rates of GCT than White women. Regarding perceived barriers to GCT, 63.4% of respondents indicated that African American women face more barriers than White women do and 21% felt that African American women require more information and guidance during the GCT decision-making process than White women. Although 32% of respondents indicated that lack of trust was a barrier to GCT in all patients, 58.1% felt that this was a greater barrier for African American women (P < .0001). Only 13.9% believed that noncompliance with GCT is a barrier for all patients, whereas 30.6% believed that African American women are more likely than White women to be noncompliant (P < .0001). CONCLUSION: We demonstrated that racial differences exist in oncology physicians' perceived barriers to GCT for patients with breast cancer. This nationwide survey will serve as a basis for understanding physicians' determinants of GCT for African American women and highlights the necessity of education and interventions to address bias among physicians. Awareness of such physician biases can enable further work to address inequities, ultimately leading to improved GCT equity for African American women with breast cancer.

Participatory Design of a Personalized Genetic Risk Tool to Promote Behavioral Health.

Despite major advancements in genomic medicine, research to optimize the design and communication of genetically informed interventions in behavioral health has lagged. The goal of this study was to engage potential end users in participatory codesign of a personalized genetically informed risk tool to intervene on high-risk health behaviors. We used structured interviews to examine end-user attitudes and interest in personalized genetics, qualitative interviews to guide iterative design of a genetically informed tool, and questionnaires to assess acceptability and potential utility of the tool. Participants expressed strong demand for using personal genetics to inform smoking and alcohol-related disease risk and guide treatment (78%-95% agreed). Via iterative design feedback, we cocreated a genetically informed risk profile featuring (i) explanation of genetic and phenotypic markers used to construct a risk algorithm, (ii) personalized risks and benefits of healthy behavior change, and (iii) recommended actions with referral to freely available resources. Participants demonstrated sufficient understanding and cited motivating behavior change as the most useful purpose of the tool. In three phases, we confirmed strong desire for personalized genetics on high-risk health behaviors; codesigned a genetically informed profile with potential end users; and found high acceptability, comprehensibility, and perceived usefulness of the profile. As scientific discovery of genomic medicine advances in behavioral health, we must develop the tools to communicate these discoveries to consumers who stand to benefit. The potential of genomic medicine to engage populations and personalize behavioral health treatment depends, in part, on preparatory studies to design for the future implementation of genetically informed interventions.

Twitter chatter about marijuana.

PURPOSE: We sought to examine the sentiment and themes of marijuana-related chatter on Twitter sent by influential Twitter users and to describe the demographics of these Twitter users. METHODS: We assessed the sentiment and themes of a random sample (n = 7,000) of influential marijuana-related tweets (sent from February 5, 20114, to March 5, 2014). Demographics of the users tweeting about marijuana were inferred using a social media analytics company (Demographics Pro for Twitter). RESULTS: Most marijuana-related tweets reflected a positive sentiment toward marijuana use, with pro-marijuana tweets outnumbering anti-marijuana tweets by a factor of greater than 15. The most common theme of pro-marijuana tweets included the Tweeter stating that he/she wants/plans to use marijuana, followed by tweeting about frequent/heavy/or regular marijuana use, and that marijuana has health benefits and/or should be legalized. Tweeters of marijuana-related content were younger and a greater proportion was African-American compared with the Twitter average. CONCLUSIONS: Marijuana Twitter chatter sent by influential Twitter users tends to be pro-marijuana and popular among African-Americans and youth/young adults. Marijuana-related harms may afflict some individuals; therefore, our findings should be used to inform online and offline prevention efforts that work to target individuals who are most at risk for harms associated with marijuana use.