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Outcomes in the field of genetic counseling have not been well-defined or categorized, despite pressures to provide evidence-based measures in all areas of healthcare. This study describes a process to elucidate and categorize a wide-ranging set of outcomes as characterized by diverse groups of practicing genetic counselors. Semi-structured focus groups were conducted at the National Society of Genetic Counselors 2013 NSGC Annual Education Conference during an educational breakout session. A general inductive qualitative research approach was utilized to code focus group notes, categorize them into themes, and compare them across specialty groups. A total of 107 individuals participated in 14 focus groups, consisting of specialists in cancer ( n = 20), general genetics ( n = 40), prenatal genetics ( n = 11), and 'other' ( n = 36). Of the twelve genetic counseling outcomes themes identified, the most common across focus groups included: 1) appropriateness of testing and accuracy of results interpretation; 2) psychosocial outcomes; 3) adherence to or receipt of appropriate medical management; and 4) patient and provider knowledge. Data assessed by specialty demonstrated similarities in outcomes themes, suggesting that a common set of genetic counseling outcomes would likely be appropriate to cover the majority of needs for the profession. Results can serve as a platform from which to build a more well-defined and comprehensive set of outcomes. [ABSTRACT FROM AUTHOR]

Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals ( NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida ( n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals. [ABSTRACT FROM AUTHOR]

Concerns about the potential for genomic advances to increase health disparities have been raised. Thus, it is important to assess referral and uptake of genetic counseling (GC) and testing in minority populations at high risk for hereditary breast and ovarian cancer (HBOC). Black women diagnosed with invasive breast cancer ≤age 50 in 2009-2012 were recruited through the Florida State Cancer Registry 6-18 months following diagnosis and completed a baseline questionnaire. Summary statistics, Chi-square tests, and path modeling were conducted to examine which demographic and clinical variables were associated with referral and access to genetic services. Of the 440 participants, all met national criteria for GC, yet only 224 (51 %) were referred for or received GC and/or HBOC testing. Variables most strongly associated with healthcare provider referral for GC included having a college education (OR 2.1), diagnosis at or below age 45 (OR 2.0), and triple negative tumor receptor status (OR 1.7). The strongest association with receipt of GC and/or HBOC testing was healthcare provider referral (OR 7.9), followed by private health insurance at diagnosis (OR 2.8), and household income greater than $35,000 in the year prior to diagnosis (OR 2.0). Study findings suggest efforts are needed to improve genetic services access among a population-based sample of high-risk Black women. These results indicate that socioeconomic factors and physician referral patterns contribute to disparities in access to genetic services within this underserved minority population. [ABSTRACT FROM AUTHOR]

Next-generation sequencing enables testing for multiple genes simultaneously ('panel-based testing') as opposed to sequential testing for one inherited condition at a time ('syndrome-based testing'). This study presents results from patients who underwent hereditary colorectal cancer ( CRC) panel-based testing (' ColoNext™'). De-identified data from a clinical testing laboratory were used to calculate (1) frequencies for patient demographic, clinical, and family history variables and (2) rates of pathogenic mutations and variants of uncertain significance ( VUS). The proportion of individuals with a pathogenic mutation who met national syndrome-based testing criteria was also determined. Of 586 patients, a pathogenic mutation was identified in 10.4%, while 20.1% had at least one VUS. After removing eight patients with CHEK2 mutations and 11 MUTYH heterozygotes, the percentage of patients with 'actionable' mutations that would clearly alter cancer screening recommendations per national guidelines decreased to 7.2%. Of 42 patients with an 'actionable' result, 30 (71%) clearly met established syndrome-based testing guidelines. This descriptive study is among the first to report on a large clinical series of patients undergoing panel-based testing for inherited CRC. Results are discussed in the context of benefits and concerns that have been raised about panel-based testing implementation. [ABSTRACT FROM AUTHOR]

Oral healthcare providers are likely to encounter a number of sensitive oral/systemic health issues whilst interacting with patients. The purpose of the current study was to develop and evaluate a framework aimed at oral healthcare providers to engage in active secondary prevention of eating disorders (i.e. early detection of oral manifestations of disordered eating behaviours, patient approach and communication, patient-specific oral treatment, and referral to care) for patients presenting with signs of disordered eating behaviours. The EAT Framework was developed based on the Brief Motivational Interviewing (B-MI) conceptual framework and comprises three continuous steps: Evaluating, Assessing, and Treating. Using a group-randomized control design, 11 dental hygiene (DH) and seven dental (D) classes from eight institutions were randomized to either the intervention or control conditions. Both groups completed pre- and post-intervention assessments. Hierarchical linear models were conducted to measure the effects of the intervention whilst controlling for baseline levels. Statistically significant improvements from pre- to post-intervention were observed in the Intervention group compared with the Control group on knowledge of eating disorders and oral findings, skills-based knowledge, and self-efficacy (all P < 0.01). Effect sizes ranged from 0.57 to 0.95. No statistically significant differences in outcomes were observed by type of student. Although the EAT Framework was developed as part of a larger study on secondary prevention of eating disorders, the procedures and skills presented can be applied to other sensitive oral/systemic health issues. Because the EAT Framework was developed by translating B-MI principles and procedures, the framework can be easily adopted as a non-confrontational method for patient communication. [ABSTRACT FROM AUTHOR]

The incorporation of web-based learning into the dental curriculum has been consistently recommended in the literature on reform in dental education. There has been growing support for web-based learning in dental and dental hygiene education as demonstrated by deans' identifying this as a planned curricular innovation. The purpose of our study was to explore characteristics of e-courses that may serve to increase adoption among dental and dental hygiene faculty members. Eight ninety-minute focus groups (three dental; five dental hygiene) were conducted with dental (n=27) and dental hygiene (n=23) faculty members from six academic institutions. The resulting data were analyzed to identify two overarching themes and associated subthemes with regard to benefits and barriers influencing adoption of e-courses. A working conceptual framework, based on the Diffusion of Innovations, was developed from these themes to understand the characteristics that may influence the rate of adoption of e-courses among dental and dental hygiene faculty members. Analysis of the data revealed four main adoption barriers: 1) low perceived relative advantage to faculty members; 2) low compatibility with current curriculum; 3) high perceived time commitment; and 4) complexity of e-course development. This exploratory assessment identifies leverage points for facilitating the adoption and sustainability of e-courses in dental and dental hygiene education. [ABSTRACT FROM AUTHOR]