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Importance: Nasal base view is important for rhinoplasty analysis. Although some descriptors of nasal base shape exist, they are largely subjective and qualitative., Objective: To evaluate a parametric model of nasal base shape and compare it with categorization by surgeons to create an objective classification system for clinical evaluation and communication., Design, Setting, and Participants: Retrospective cohort review of deidentified photographs of 420 patients evaluated for possible facial plastic surgery at a tertiary care academic medical center between January 2013 and June 2017. The nasal bases were classified into 6 shape categories (equilateral, boxy, cloverleaf, flat, round, and narrow) via visual inspection. The contour of each nasal base was traced using MATLAB software (MathWorks Inc). The software then performed a curve fit to the parametric model with output of values for 5 parameters: projection-to-width ratio, the anterior-posterior positioning of the tip bulk, symmetry, degree of lateral recurvature of the nasal base, and size. The differences among shape categories for each parameter were analyzed using 1-way analysis of variance. Pairwise comparisons were then performed to ascertain how the various shapes differed. Finally, a multinomial logistic regression model was used to predict nasal base shape using parameter values. Data were analyzed between April 2017 and January 2018., Main Outcomes and Measures: An algorithm that categorized nasal base shapes into 6 categories., Results: The 420 nasal base photographs of patients evaluated for possible plastic surgery were categorized into 1 of 6 categories; 305 photographs were readily classified, and the remaining 115 were termed unclassified and were categorized. For both the classified and unclassified nasal base groups, there were statistically significant differences between projection-to-width ratio (classified, F5,299 = 21.51; unclassified, F4,100 = 10.59; P < .001), the anterior-posterior positioning of the tip bulk (classified, F5,299 = 3.76; P = .003; unclassified, F4,110 = 4.54; P = .002), and degree of lateral recurvature of the nasal base (classified, F5,299 = 24.14; unclassified, F4,100 = 7.21; P < .001). A multinomial logistic regression model categorization was concordant with surgeon categorization in 201 of 305 (65.9%) cases of classified nasal bases and 38 of 115 (33.0%) unclassified nasal bases., Conclusions and Relevance: The parametric model may provide an objective and numerical approach to analyzing nasal base shape., Level of Evidence: NA.

Background : Basic and clinical scientific research at the University of South Florida (USF) have intersected to support a multi-faceted approach around a common focus on rare iron-related diseases. We proposed a modified version of the National Center for Biotechnology Information's (NCBI) Hackathon-model to take full advantage of local expertise in building "Iron Hack", a rare disease-focused hackathon. As the collaborative, problem-solving nature of hackathons tends to attract participants of highly-diverse backgrounds, organizers facilitated a symposium on rare iron-related diseases, specifically porphyrias and Friedreich's ataxia, pitched at general audiences. Methods : The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich's Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. Results : As a result of this hackathon, we developed resources that are relevant not only to these specific disease-models, but also to other rare diseases and general bioinformatics problems. Within two and a half days, "Iron Hack" participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance. Conclusions : The purpose of this manuscript is to demonstrate the utility of a hackathon model to generate prototypes of generalizable tools for a given disease and train clinicians and data scientists to interact more effectively., Competing Interests: No competing interests were disclosed., (Copyright: © 2019 Ferreira GC et al.)

Aims: This study compared facilitators and barriers to genetic testing and determined awareness about the Genetic Information Nondiscrimination Act (GINA) across young Hispanic and non-Hispanic white (NHW) breast cancer (BC) survivors., Materials and Methods: Women diagnosed with BC of age ≤50 years in 2009-2012 were recruited through the Florida State Cancer Registry to complete a questionnaire., Results: There were 1182 participants of which 61% (174/285) of Hispanic patients, and 65% (580/897) of NHW patients had BC testing. Among untested participants, the most common barriers were lack of testing recommendation (44% Hispanics, 32% NHW; p = 0.02) and cost-related concerns (41% Hispanics, 40% NHW; p = 0.83). Among tested participants, the top facilitators were as follows: (1) "To benefit my family's future" (70% Hispanic, 68% NHW), (2) "My doctor recommended testing" (60% Hispanic, 54% NHW), and (3) "Minimal cost to me" (59% Hispanic, 72% NHW). Only 27% of tested and 15% of untested women were aware of GINA; misuse of test results was reported as a barrier for only 6.5%., Conclusions: Rates of genetic testing recommendation are lower among Hispanics, but both groups reported additional barriers. Most are unaware of GINA, yet misuse is not a highly cited barrier. Findings suggest the need to educate providers on the importance of recommending testing to all who meet criteria; increase awareness of newer options for more affordable testing; and bolster facilitators that may increase testing uptake.

Objective: Prior studies demonstrating minimal psychological consequences for women receiving genetic counseling/genetic testing (GC/GT) for hereditary breast and ovarian cancer rely on predominantly Caucasian women. We conducted a prospective follow-up of a subset of participants from a population-based study of Black breast cancer (BC) survivors receiving GC/GT for BRCA1 and BRCA2 mutations., Methods: Black women with invasive BC at age ≤ 50 years diagnosed between 2009 and 2012 were recruited through the Florida Cancer Registry. Participants (n = 215, age M = 44.7, SD = 6.2) were offered telephone pre- and post-test GC, a subset completed questionnaires assessing sociodemographic, clinical, and psychosocial variables., Results: There were no baseline differences in cancer-related distress, psychological distress, or quality of life between test result groups. Social well-being improved in women receiving negative results (P = .01), but no other outcomes demonstrated significant changes over time between groups., Conclusions: Our study is among the first to demonstrate minimal negative psychosocial outcomes following GC/GT among young Black BC survivors, irrespective of test results., (© 2018 John Wiley & Sons, Ltd.)

Background: Systematic screening of all colorectal tumors for Lynch Syndrome (LS) has been recommended since 2009. Currently, implementation of LS screening in healthcare systems remains variable, likely because LS screening involves the complex coordination of multiple departments and individuals across the healthcare system. Our specific aims are to (1) describe variation in LS screening implementation across multiple healthcare systems; (2) identify conditions associated with both practice variation and optimal implementation; (3) determine the relative effectiveness, efficiency, and costs of different LS screening protocols by healthcare system; and (4) develop and test in a real-world setting an organizational toolkit for LS screening program implementation and improvement. This toolkit will promote effective implementation of LS screening in various complex health systems., Methods: This study includes eight healthcare systems with 22 clinical sites at varied stages of implementing LS screening programs. Guided by the Consolidated Framework for Implementation Research (CFIR), we will conduct in-depth semi-structured interviews with patients and organizational stakeholders and perform economic evaluation of site-specific implementation costs. These processes will result in a comprehensive cross-case analysis of different organizational contexts. We will utilize qualitative data analysis and configurational comparative methodology to identify facilitators and barriers at the organizational level that are minimally sufficient and necessary for optimal LS screening implementation., Discussion: The overarching goal of this project is to combine our data with theories and tools from implementation science to create an organizational toolkit to facilitate implementation of LS screening in various real-world settings. Our organizational toolkit will account for issues of complex coordination of care involving multiple stakeholders to enhance implementation, sustainability, and ongoing improvement of evidence-based LS screening programs. Successful implementation of such programs will ultimately reduce suffering of patients and their family members from preventable cancers, decrease waste in healthcare system costs, and inform strategies to facilitate the promise of precision medicine., Trial Registration: N/A.

Background: Physicians are charged with implementing evidence-based medicine, yet few are trained in the science of Dissemination and Implementation (D&I). In view of the potential of evidence-based training in D&I to help close the gap between research and practice, the goal of this review is to examine the importance of D&I training in medical education, describe challenges to implementing such training, and provide strategies and resources for building D&I capacity., Methods: We conducted (1) a systematic review to identify US-based D&I training efforts and (2) a critical review of additional literature to inform our evaluation of the challenges and opportunities of integrating D&I training in medical education., Results: Out of 269 unique articles reviewed, 11 described US-based D&I training. Although vibrant and diverse training opportunities exist, their capacity is limited, and they are not designed to meet physicians' needs. Synthesis of relevant literature using a critical review approach identified challenges inherent to changing medical education, as well as challenges related to D&I science. Finally, selected strategies and resources are available for facilitating incorporation of D&I training into medical education and overcoming existing challenges., Conclusions: Integrating D&I training in the medical education curriculum, and particularly in residency and fellowship training, holds promise for bridging the chasm between scientific discoveries and improved patient care and outcomes. However, unique challenges should be addressed, including the need for greater evidence., Competing Interests: Declaration Of Conflicting Interests:The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.

In this issue, Kaphingst and colleagues report on young breast cancer patient's preferences for learning about various results from genomic sequencing. In our commentary, we discuss the results in light of the burgeoning clinical use of whole-exome and whole-genome sequencing (WES/WGS). In particular, we consider findings in the context of a Shared Decision Making approach to return of results. We also identify additional important factors to consider that may influence patient preferences that were largely absent from the paper by Kaphingst and colleagues, including cultural context, costs of testing, and provider factors., (© Society of Behavioral Medicine 2018.)

A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available. Among the 656 women, only four (0.6%) carried a clearly pathogenic MMR mutation. All four cancers from patients with mutations had loss of two or more microsatellite markers (MSI-high). Eighty-four of 652 (13.0%) women without a mutation had MSI-high ovarian cancers. Using MSI-high as a prescreening criterion, the sensitivity of MSI testing to identify germline MMR gene mutations was 100% and the positive predictive value was 4.5%. Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. Patients with germline mutations often will have MSI-positive cancers and pre-screening of ovarian cancer specimens may be an efficient way of identifying patients with Lynch syndrome.

Background: Breast cancer (BC) disparities may widen with genomic advances. The authors compared non-Hispanic white (NHW), black, and Hispanic BC survivors for 1) cancer risk-management practices among BRCA carriers and 2) provider discussion and receipt of genetic testing., Methods: A population-based sample of NHW, black, and Hispanic women who had been diagnosed with invasive BC at age 50 years or younger from 2009 to 2012 were recruited through the state cancer registry. Multiple logistic regression was used to compare cancer risk-management practices in BRCA carriers and associations of demographic and clinical variables with provider discussion and receipt of testing., Results: Of 1622 participants, 159 of 440 (36.1%) black women, 579 of 897 (64.5%) NHW women, 58 of 117 (49.6%) Spanish-speaking Hispanic women, and 116 of 168 (69%) English-speaking Hispanic women underwent BRCA testing, of whom 90 had a pathogenic BRCA mutation identified. Among BRCA carriers, the rates of risk-reducing mastectomy and risk-reducing salpingo-oophorectomy were significantly lower among black women compared with Hispanic and NHW women after controlling for clinical and demographic variables (P = .025 and P = .008, respectively). Compared with NHW women, discussion of genetic testing with a provider was 16 times less likely among black women (P < .0001) and nearly 2 times less likely among Spanish-speaking Hispanic women (P = .04) after controlling for clinical and sociodemographic factors., Conclusions: The current results suggest that the rates of risk-reducing salpingo-oophorectomy are lower among black BRCA carriers compared with their Hispanic and NHW counterparts, which is concerning because benefits from genetic testing arise from cancer risk-management practice options. Furthermore, lower BRCA testing rates among blacks may partially be because of a lower likelihood of provider discussion. Future studies are needed to improve cancer risk identification and management practices across all populations to prevent the widening of disparities. Cancer 2017;123:2497-05. © 2017 American Cancer Society., (© 2017 American Cancer Society.)

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

Introduction: DNA sequencing advances through next-generation sequencing (NGS) and several practice changing events, have led to shifting paradigms for inherited cancer predisposition testing. These changes necessitated a means by which to maximize health benefits without unnecessarily inflating healthcare costs and exacerbating health disparities. Areas covered: NGS-based tests encompass multi-gene panel tests, whole exome sequencing, and whole genome sequencing, all of which test for multiple genes simultaneously, compared to prior sequencing practices through which testing was performed sequentially for one or two genes. Taking an ecological approach, this article synthesizes the current literature to consider the broad impact of these advances from the individual patient-, interpersonal-, organizational-, community- and policy-levels. Furthermore, the authors describe how multi-level factors that impact genetic testing and follow-up care reveal great potential to widen existing health disparities if these issues are not addressed. Expert commentary: As we consider ways to maximize patient benefit from testing in a cost effective manner, it is important to consider perspectives from multiple levels. This information is needed to guide the development of interventions such that the promise of genomic testing may be realized by all populations, regardless of race, ethnicity and ability to pay.

As debates continue about the relevance of religion to health care, research is needed to guide decisions about whether genetic counselors (GCs) should routinely address religious and/or spiritual (R/S) issues with their patients. We conducted an online survey to gauge patient perspectives on this issue. Among the 70 respondents, frequencies of closed-ended responses and thematic analyses of open-ended responses revealed multiple patient concerns related to R/S discussions with GCs. Although 60 respondents reported being R/S, only a small minority would want to discuss R/S issues if it meant less time discussing medical information. Most respondents also expressed opinions that: 1) genetic counseling should be about science; 2) GCs are not qualified to discuss R/S issues; 3) other outlets are available to meet the needs of patients who want R/S counseling; and/or 4) R/S discussions are more likely to be acceptable if patients broach the topic or in specific circumstances (e.g., when patients are facing end-of life issues). Overall, responses suggest routine or comprehensive R/S assessments or discussions are not necessary and that GCs would be best equipped to help all their patients if they were prepared to listen, be supportive, and make referrals when R/S issues arise in clinic.

Aims: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing., Methods: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses., Results: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending <20 min. Elements not routinely covered by >40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS., Conclusions: Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.

Qualitative comparative analysis (QCA) was developed over 25 years ago to bridge the qualitative and quantitative research gap. Upon searching PubMed and the Journal of Mixed Methods Research , this review identified 30 original research studies that utilized QCA. Perceptions that QCA is complex and provides few relative advantages over other methods may be limiting QCA adoption. Thus, to overcome these perceptions, this article demonstrates how to perform QCA using data from fifteen institutions that implemented universal tumor screening (UTS) programs to identify patients at high risk for hereditary colorectal cancer. In this example, QCA revealed a combination of conditions unique to effective UTS programs. Results informed additional research and provided a model for improving patient follow-through after a positive screen.

Given that Black women remain underrepresented in clinical research studies, we sought to recruit a population-based sample of young Black women with breast cancer through a state cancer registry. Demographic and clinical information on all Black women diagnosed with invasive breast cancer at or below age 50 between 2009 and 2012 in Florida was obtained through the state cancer registry. Survivors were invited to participate in the study through state-mandated recruitment methods. Participant demographic and clinical characteristics were compared using Chi-squared tests for categorical variables and the two sample t-test for continuous variables to identify differences between: (i) consented participants versus all other eligible; and (ii) living versus deceased. Of the 1,647 young Black women with breast cancer, mean age at diagnosis was 42.5, with the majority having localized or regional disease, unmarried, privately insured, and employed. There were no significant differences in demographic and clinical variables between the 456 consented study participants versus the remaining 1,191 presumed eligible individuals. Compared to potential participants, women determined to be deceased prior to recruitment (n = 182) were significantly more likely to have distant disease and a triple-negative phenotype. They were also significantly more likely to be unemployed, and uninsured or have public insurance (i.e., Medicaid or Medicare). Our results demonstrate that recruitment of a population-based sample of breast cancer survivors through a state cancer registry is a feasible strategy in this underserved and underrepresented population. However, survival bias, which was observed due to the lag time between diagnosis and recruitment, is important to adjust for when generalizing findings to all young Black breast cancer patients., (© 2015 Wiley Periodicals, Inc.)

Competing Interests: Authors’ disclosures of potential conflicts of interest and contributions are found at the end of this article. How Context Matters: A Dissemination and Implementation Primer for Global OncologistsThe following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated. Relationships are self-held unless noted. I = Immediate Family Member, Inst = My Institution. Relationships may not relate to the subject matter of this manuscript. For more information about ASCO's conflict of interest policy, please refer to www.asco.org/rwc or jco.ascopubs.org/site/ifc.Bogda KoczwaraNo relationship to discloseSarah A. BirkenNo relationship to discloseCynthia K. PerryNo relationship to discloseDeborah CragunNo relationship to discloseLeah L. ZulligSpeakers’ Bureau: OptumHealth Travel, Accommodations, Expenses: OptumHealthTamar GinossarNo relationship to discloseJesse NodoraNo relationship to discloseNeetu ChawlaNo relationship to discloseShoba RamanadhanNo relationship to discloseJon KernerNo relationship to discloseRoss C. BrownsonNo relationship to disclose

This article introduces the identification, prevention, and treatment of hereditary cancer as an important public health concern. Hereditary cancer research and educational outreach activities are used to illustrate how public health functions can help to achieve health benefits of genetic and genomic medicine. First, we evaluate genetic service delivery through triangulating patient and provider survey results which reveal variability among providers in hereditary cancer knowledge and genetic service provision. Second, we describe efforts we have made to assure competency among healthcare providers and to inform, educate and empower patients with regard to the rapidly evolving field of genomics and hereditary cancer. Lastly, key policy-issues raised by our experiences are discussed in the context of how they may help us to more effectively translate future genomic technologies into practice in order to attain population health benefits from genetic and genomic medicine.

Background: Black women are disproportionately affected with triple-negative breast cancer and have relatively poor survival. To the authors' knowledge, it is not known to what extent differences in the clinical presentation of breast cancer between non-Hispanic white women and black women can be accounted for by the presence of mutations in the BRCA1 and BRCA2 genes. The authors sought to evaluate the frequency of BRCA pathogenic variants in a population-based sample of young black women with breast cancer., Methods: Black women diagnosed with invasive breast cancer at age ≤50 years from 2009 to 2012 were recruited to the study through the Florida Cancer Registry. Participants underwent genetic counseling, completed a study questionnaire, and consented to release of their medical records. Saliva specimens were collected for BRCA sequencing and large rearrangement testing through multiplex ligation-dependent probe amplification., Results: A DNA sample was evaluated for 396 women, 49 of whom (12.4%) had a mutation in BRCA1 or BRCA2. Eight recurrent mutations accounted for 49% of all pathogenic variants., Conclusions: To the authors' knowledge, the prevalence of BRCA mutations among the Florida-based sample of young black women with breast cancer in the current study exceeds that previously reported for non-Hispanic white women. It is appropriate to recommend BRCA testing in all young black women with invasive breast cancer., (© 2015 American Cancer Society.)

Institutions have increasingly begun to adopt universal tumor screening (UTS) programs whereby tumors from all newly diagnosed patients with colorectal cancer (CRC) are screened to identify who should be offered germline testing for Lynch syndrome (the most common cause of hereditary CRC). Given limited information about the impact of universal screening programs to detect hereditary disease in adults, we apply criteria used to evaluate public health screening programs and compare and contrast UTS with universal newborn screening (NBS) for the purpose of examining ethical implications and anticipating potential outcomes of UTS. Both UTS and a core set of NBS conditions clearly meet most of the Wilson and Jungner screening criteria. However, many state NBS panels include additional conditions that do not meet several of these criteria, and there is currently insufficient data to confirm that UTS meets some of these criteria. Comparing UTS and NBS with regard to newer screening criteria raises additional issues that require attention for both UTS and NBS. Comparisons also highlight the importance of evaluating the implementation of genomic tests to ensure or improve their effectiveness at reducing morbidity and mortality while minimizing potential harms.

The Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendation stating that every newly diagnosed colorectal cancer (CRC) should undergo tumor screening for Lynch syndrome (LS). In 2011, leading cancer institutions and public health agencies created the Lynch Syndrome Screening Network (LSSN) in order to promote routine LS screening on all newly diagnosed CRCs and endometrial cancers (EC). The LSSN facilitates implementation of appropriate screening via shared resources, protocols and data through network collaboration. The LSSN website contains resources for institutions interested in initiating screening, including materials for program development, implementation and sustainability. The LSSN listserv gives providers access to experts in LS screening and implementation. The LSSN database will allow exploration of key gaps in implementation as a consortia-wide endeavor. To date, the LSSN's membership includes 85 institutions involved in the care of CRC patients and nine official partners such as national and state public health entities and other non-profit institutions. Nearly 80 % of the LSSN's members have already implemented routine or universal CRC and/or EC screening. LSSN serves to further the population health potential of universal LS screening through collaborative efforts and resources.

Purpose: The purpose of this study was to assess potential differences in genetic counseling services delivered by board-certified genetic health-care providers versus non-genetic health-care providers. We evaluated (i) patient recall and content of pretest genetic counseling for hereditary breast and ovarian cancer and (ii) whether full BRCA1 and 2 gene sequencing was performed when less expensive single-site or Ashkenazi Jewish founder mutation testing may have been sufficient., Methods: Participants completed a questionnaire and provided BRCA test reports that included testing provider and type of test. Chi-square tests and logistic regression were used for analysis., Results: Of 473 participants, >90% were white, female, and BRCA mutation carriers. Of the 276 (58%) with genetic health-care provider involvement, 97% recalled a pretest discussion as compared with 59% of those without genetic health-care provider involvement (P < 0.001). Among the subgroup who recalled a pretest discussion (n = 385), those with genetic health-care provider involvement indicated higher adherence to eight recognized genetic counseling elements, four of which were statistically significant. Furthermore, involvement of a genetic health-care provider halved the likelihood that comprehensive BRCA testing was ordered among the 266 for whom single-site or multisite-3 testing may have been sufficient (P = 0.02)., Conclusion: Our results suggest that genetic health-care provider involvement is associated with adherence to nationally recommended genetic counseling practices and could potentially reduce costs of BRCA genetic testing.

Purpose: Universal tumor screening (UTS) for all colorectal cancer patients can improve the identification of Lynch syndrome, the most common cause of hereditary colorectal cancer. This multiple-case study explored how variability in UTS procedures influenced patient follow-through (PF) with germ-line testing after a screen-positive result., Methods: Data were obtained through Web-based surveys and telephone interviews with institutional informants. Institutions were categorized as Low-PF (≤10% underwent germ-line testing), Medium-PF (11-40%), or High-PF (>40%). To identify implementation procedures (i.e., conditions) unique to High-PF institutions, qualitative comparative analysis was performed., Results: Twenty-one informants from 15 institutions completed surveys and/or interviews. Conditions present among all five High-PF institutions included the following: (i) disclosure of screen-positive results to patients by genetic counselors; and (ii) genetic counselors either facilitate physician referrals to genetics professionals or eliminate the need for referrals. Although both of these High-PF conditions were present among two Medium-PF institutions, automatic reflex testing was lacking and difficulty contacting screen-positive patients was a barrier. The three remaining Medium-PF and five Low-PF institutions lacked the conditions found in High-PF institutions., Conclusion: METHODS for streamlining UTS procedures, incorporating a high level of involvement of genetic counselors in tracking and communication of results and in reducing barriers to patient contact, are reviewed within a broader discussion on maximizing the effectiveness and public health impact of UTS.

Objective: In epithelial ovarian cancer, concordance between results of microsatellite instability (MSI) and immunohistochemical (IHC) testing has not been demonstrated. This study evaluated the association of MSI-high (MSI-H) status with loss of expression (LoE) of mismatch repair (MMR) proteins on IHC and assessed for potential factors affecting the strength of the association., Methods: Tumor specimens from three population-based studies of epithelial ovarian cancer were stained for MMR proteins through manual or automated methods, and results were interpreted by one of two pathologists. Tumor and germline DNA was extracted and MSI testing performed. Multivariable logistic regression models were fitted to predict loss of IHC expression based on MSI status after adjusting for staining method and reading pathologist., Results: Of 834 cases, 564 (67.6%) were concordant; 41 were classified as MSI-H with LoE and 523 as microsatellite stable (MSS) with no LoE. Of the 270 discordant cases, 83 were MSI-H with no LoE and 187 were MSS with LoE. Both IHC staining method and reading pathologist were strongly associated with discordant results., Conclusions: Lack of concordance in the current study may be related to inconsistencies in IHC testing methods and interpretation. Results support the need for validation studies before routine screening of ovarian tumors is implemented in clinical practice for the purpose of identifying Lynch syndrome.

Young Black women in the United States are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a cancer registry-based sample of young Black women with breast cancer, we evaluated: (1) the prevalence of BRCA mutations detected through full gene sequencing and large rearrangements testing and (2) proportions that accessed genetic services pre-dating study enrollment. Black women diagnosed with invasive breast cancer ≤age 50 years in 2009-2012 were recruited through the Florida Cancer Registry. Participants completed genetic counseling, a study questionnaire, and consent for medical record release. Saliva specimens were collected for BRCA testing. Overall, 13 participants (9 %) had BRCA mutations detected (including 11 through full gene sequencing and two through large rearrangements testing). One of these large rearrangements, BRCA1 (delExon8), was identified in a participant who had previously tested negative on clinical comprehensive BRCAnalysis that was performed prior to undergoing a lumpectomy. Although all 144 participants met national criteria for referral for cancer genetic risk assessment, 61 (42 %) were referred for genetic counseling and/or had genetic testing preceding study enrollment, and only 20 (14 %) received genetic counseling. Our findings emphasize the importance of large rearrangements testing to increase detection of deleterious BRCA mutations in young Black women with breast cancer. The registry-based design of our study increase the generalizability of findings compared with efforts focused on clinic-based populations. Furthermore, results suggest efforts are needed to improve access to genetic counseling and testing.

The purpose of this study was to test whether an interactive, web-based training program is more effective than an existing, flat-text, e-learning program at improving oral health students' knowledge, motivation, and self-efficacy to address signs of disordered eating behaviors with patients. Eighteen oral health classes of dental and dental hygiene students were randomized to either the Intervention (interactive program; n=259) or Alternative (existing program; n=58) conditions. Hierarchical linear modeling assessed for posttest differences between groups while controlling for baseline measures. Improvement among Intervention participants was superior to those who completed the Alternative program for three of the six outcomes: benefits/barriers, self-efficacy, and skills-based knowledge (effect sizes ranging from 0.43 to 0.87). This study thus suggests that interactive training programs may be better than flat-text e-learning programs for improving the skills-based knowledge and self-efficacy necessary for behavior change.

Recognizing the importance of identifying patients at high risk for inherited cancer predisposition, the United States Preventive Services Task Force (USPSTF) has outlined specific family history patterns associated with an increased risk for BRCA mutations. However, national data indicate a need to facilitate the ability of primary care providers to appropriately identify high risk patients. Once a patient is identified as high risk, it is necessary for the patient to undergo a detailed genetics evaluation to generate a differential diagnosis, determine a cost-effective genetic testing strategy, and interpret results of testing. With identification of inherited predisposition, risk management strategies in line with national guidelines can be implemented to improve patient outcomes through cancer risk reduction and early detection. As use of genetic testing increasingly impacts patient outcomes, the role of primary care providers in the identification and care of individuals at high risk for hereditary cancer becomes even more important. Nevertheless it should be acknowledged that primary care providers face many competing demands and challenges to identify high risk patients. Therefore initiatives which promote multidisciplinary and coordinated care, potentially through academic-community partnerships, may provide an opportunity to enhance care of these patients.

With the expansion of genetic testing options due to tremendous advances in sequencing technologies, testing will increasingly be offered by a variety of healthcare providers in diverse settings, as has been observed with BRCA1 and BRCA2 (BRCA) gene testing over the last decade. In an effort to assess the educational needs and preferences of healthcare providers primarily in a community-based setting, we mailed a survey to healthcare providers across Florida who order BRCA testing. Within the packet, a supplemental card was included to give participants the opportunity to request free clinical educational resources from the investigative team. Of 81 eligible providers who completed the survey, most were physicians or nurse practitioners; and over 90 % worked in a community or private practice setting. Respondents provided BRCA testing services for a median of 5 years, but the majority (56 %) reported no formal training in clinical cancer genetics. Most respondents (95 %) expressed interest in formal training opportunities, with 3-day in-person weekend training representing the most highly preferred format. The most widely selected facilitators to participation were minimal requirement to take time off work and continuing education credits. Overall, 64 % of respondents requested free clinical educational resources. Preferences for informal education included written materials and in-person presentations; whereas accessing a DVD or website were less popular. Findings from our study highlight both the need for and interest in ongoing educational opportunities and resources among community providers who order BRCA testing. These results can be used to enhance participation of community-based providers in educational training programs by targeting educational resources to the most preferred format.

Objective: To examine gender differences in unhealthy weight-control behaviors (UWCB) and identify key psychosocial and demographic correlates of UWCB among sixth-graders., Methods: A cross-sectional survey was completed by 146 boys and 153 girls at a middle school. Secondary data analyses included bivariate tests and multivariable logistic regression., Results: Forty-seven percent of participants reported 1 or more UWCB, with no differences by gender (P = .75). Factors common to boys and girls included: lower global self-esteem; lower body-esteem; and greater negative parental modeling among participants who engaged in UWCB compared to those who did not. However, multivariable models revealed gender differences. Among boys, body mass index, negative parental modeling, and global self-esteem retained statistically significant associations with UWCB after controlling for other variables in the model, whereas race and weight-related body-esteem remained significant for girls., Conclusions and Implications: This research highlights the need for gender-specific UWCB prevention programs implemented in late childhood and early adolescence., (Copyright © 2013 Society for Nutrition Education and Behavior. Published by Elsevier Inc. All rights reserved.)

Background: Validation of body esteem measures in pre- and early adolescent male and female populations is essential as gender differences regarding weight and body size concerns often emerge during this developmental period., Objective: The purpose of the current study was to analyze psychometric properties of the Body Esteem Scale for Adolescents and Adults (BESAA) in order to determine the utility of this instrument in a population of early adolescent males and females., Methods: A cross-sectional survey was completed by 86% of sixth-graders (N = 299) at a single US middle school., Results: Confirmatory factor analysis provides support for two interpretable and interrelated subscales of the BESAA [Body esteem (BE)-weight and BE-appearance], both of which exhibit good internal consistency reliability and evidence of concurrent validity based on correlations with self-esteem and BMI. However, the following concerns about the BESAA were identified: (a) certain scale items may lack structural invariance across gender and developmental age group; (b) multiple items demonstrated a tendency to load on both factors; (c) several item pairs are similar in wording and/or meaning and show a tendency for correlated errors; and (d) an additional BE dimension assessing views about one's muscle build and strength may be needed to fully capture body esteem among adolescent males., Conclusions: Findings suggest cognitive interviewing and additional psychometric studies are needed for modifying the BESAA for use among early adolescents.

Purpose: This study describes practitioner knowledge and practices related to BRCA testing and management and explores how training may contribute to practice patterns., Methods: A survey was mailed to all BRCA testing providers in Florida listed in a publicly available directory. Descriptive statistics characterized participants and their responses., Results: Of the 87 respondents, most were community-based physicians or nurse practitioners. Regarding BRCA mutations, the majority (96%) recognized paternal inheritance and 61% accurately estimated mutation prevalence. For a 35-year-old unaffected BRCA mutation carrier, the majority followed national management guidelines. However, 65% also recommended breast ultrasonography. Fewer than 40% recognized the need for comprehensive rearrangement testing when BRACAnalysis(®) was negative in a woman at 30% risk. Finally, fewer than 15% recognized appropriate testing for a BRCA variant of uncertain significance. Responses appeared to be positively impacted by presence and type of cancer genetics training., Conclusions: In our sample of providers who order BRCA testing, knowledge gaps in BRCA prevalence estimates and appropriate screening, testing, and results interpretation were identified. Our data suggest the need to increase regulation and oversight of genetic testing services at a policy level, and are consistent with case reports that reveal liability risks when genetic testing is conducted without adequate knowledge and training.

Aims: Benefits of universal tumor screening for Lynch syndrome (LS), the most common form of hereditary colorectal cancer (CRC), will be realized only if patients are interested in genetic counseling and testing. This study explores interest in genetic testing for hereditary CRC among CRC patients who have never received genetic counseling or testing., Methods: Using results from a cross-sectional survey of CRC patients (n=91) at varying categories of risk for hereditary CRC, bivariate and multivariable analyses were conducted to compare positive and negative attitudinal beliefs regarding genetic testing, risk perceptions, demographics, and tumor stage of those who were interested in genetic testing (n=61) and those who were not interested or were not sure (n=30)., Results: Although significant at the bivariate level, gender, perceived relative risk of hereditary cancer, employment status, and belief that genetic testing would help in preparing for the future were not significantly related to interest in genetic testing when controlling for all other variables in a logistic regression model. The two factors that remained significant include a single-item question measuring the belief that genetic testing is warranted based on personal/family history and a positive attitudinal scale regarding the utility of genetic testing in medical decision making and cancer prevention., Conclusion: Results have potential implications for policies regarding universal tumor screening for LS.