Microlearning: Evidence-based education that is effective for busy professionals and short attention spans.

Microlearning uses short educational interventions to provide learners with the necessary knowledge and skills to perform specific tasks or solve immediate problems. This approach is increasingly used across digital platforms to engage learners and foster quick comprehension. Microlearning can be used in clinical genetics education to deliver a comprehensive educational intervention that is segmented into smaller discrete but complimentary components. This report discusses one group's approach to using microlearning in clinician education and provides tips that can be applied to other educational efforts. High-quality genetics education has the potential to be disseminated across multiple delivery methods and to multiple audiences, thereby increasing its impact and reach.

A team-based approach to cardiogenomic education.

While many genetic professionals are involved in the education of lay and professional audiences, most do not have formal training in education theory and program design. Partnerships with adult education experts can provide additional resources and improve the level of instruction, thereby increasing the impact of an educational intervention. This report discusses the experience of a multidisciplinary team of educators, clinicians, and researchers partnering to develop evidence-based education for cardiology practitioners. It includes practical advice for how clinicians and educators can develop more effective education through collaboration, needs assessment, instructional design, and iterative content development.

Community oncologists' perceptions and utilization of large-panel genomic tumor testing.

PURPOSE: Large-panel genomic tumor testing (GTT) is an emerging technology with great promise but uncertain clinical value. Previous research has documented variability in academic oncologists' perceptions and use of GTT, but little is known about community oncologists' perceptions of GTT and how perceptions relate to clinicians' intentions to use GTT. METHODS: Community oncology physicians (N = 58) participating in a statewide initiative aimed at improving access to large-panel GTT completed surveys assessing their confidence in using GTT, attitudes regarding the value of GTT, perceptions of barriers to GTT implementation, and future intentions to use GTTs. Descriptive and multivariable regression analyses were conducted to characterize these perceptions and to explore the relationships between them. RESULTS: There was substantial variability in clinicians' perceptions of GTT. Clinicians generally had moderate confidence in their ability to use GTT, but lower confidence in patients' ability to understand test results and access targeted treatment. Clinicians had positive attitudes regarding the value of GTT. Clinicians' future intentions to use GTT were associated with greater confidence in using GTT and greater perceived barriers to implementing GTT, but not with attitudes about the value of GTT. CONCLUSIONS: Community oncologists' perceptions of large-panel genomic tumor testing are variable, and their future intentions to use GTT are associated with both their confidence in and perceived barriers to its use, but not with their attitudes towards GTT. More research is needed to understand other factors that determine how oncologists perceive and use GTT in clinical practice.

The influence of uncertainty and uncertainty tolerance on attitudes and self-efficacy about genomic tumor testing.

Novel medical technologies, like large-panel genomic tumor testing (GTT), offer great promise but also substantial uncertainty regarding their clinical value and appropriate use. The goal of this study was to understand how clinicians' perceived uncertainty about GTT, and uncertainty tolerance (UT), a construct that describes trait-level differences in individuals' responses to uncertainty, influence attitudes and self-efficacy regarding GTT. Community-based oncologists participating in a study of large-panel GTT completed surveys assessing their perceptions of uncertainty about GTT, and their attitudes and self-efficacy regarding GTT. Multivariable regression analyses examined the relationship between oncologists' perceived uncertainty of GTT and their GTT-related attitudes and self-efficacy, and the potential moderating effect of individual differences in UT. Fifty-seven oncologists completed surveys. Greater perceived uncertainty about GTT was associated with more negative attitudes towards it. This association was moderated by UT, such that lower UT was associated with a stronger negative relationship between perceived uncertainty and attitudes. That is, oncologists who perceive GTT as uncertain, tended to have more negative attitudes, particularly if they were low in the trait of uncertainty tolerance. More research is warranted to understand how uncertainty and uncertainty tolerance influence clinicians' responses to GTT and other novel medical interventions.

Implementation of an electronic genomic and family health history tool in primary prenatal care.

"The Pregnancy and Health Profile," (PHP) is a free genetic risk assessment software tool for primary prenatal providers that collects patient-entered family (FHH), personal, and obstetrical health history, performs risk assessment, and presents the provider with clinical decision support during the prenatal encounter. The tool is freely available for download at www.hughesriskapps.net. We evaluated the implementation of PHP in four geographically diverse clinical sites. Retrospective chart reviews were conducted for patients seen prior to the study period and for patients who used the PHP to collect data on documentation of FHH, discussion of cystic fibrosis (CF) and hemoglobinopathy (HB) carrier screening, and CF and HB interventions (tests, referrals). Five hundred pre-implementation phase and 618 implementation phase charts were reviewed. Documentation of a 3-generation FHH or pedigree improved at three sites; patient race/ethnicity at three sites, father of the baby (FOB) race/ethnicity at all sites, and ancestry for the patient and FOB at three sites (P < 0.001-0001). CF counseling improved for implementation phase patients at one site (8% vs. 48%, P < 0.0001) and CF screening/referrals at two (2% vs. 14%, P < 0.0001; 6% vs. 14%; P = 0.05). Counseling and intervention rates did not increase for HB. This preliminary study suggests that the PHP can improve documentation of FHH, race, and ancestry, as well as the compliance with current CF counseling and intervention guidelines in some prenatal clinics. Future evaluation of the PHP should include testing in a larger number of clinical environments, assessment of additional performance measures, and evaluation of the system's overall clinical utility.

Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

"The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

Socioeconomic and urban-rural disparities in genome-matched treatment receipt and survival after genomic tumor testing.

BACKGROUND: Emerging cancer treatments are often most available to socially advantaged individuals. This study examines the relationship of patient educational attainment, income level, and rurality to the receipt of genome-matched treatment and overall survival. METHODS: Survey and clinical data were collected from patients with cancer (n = 1258) enrolled in the Maine Cancer Genomics Initiative. Logistic regression models examined whether receipt of genome-matched treatment differed by patient education, income, and rurality. Kaplan-Meier curves and Cox regression were conducted to evaluate 12-month mortality. We completed additional exploratory analyses using Kaplan-Meier curves and Cox models stratified by receipt of genome-matched treatment. Logistic and Cox regression models were adjusted for age and gender. RESULTS: Educational attainment, income level, and rurality were not associated with genome-matched treatment receipt. Of 1258 patients, 462 (36.7%) died within 365 days of consent. Mortality risk was associated with lower educational attainment (hazard ratio [HR] = 1.30, 95% confidence interval [CI] = 1.06 to 1.59; P = .013). No statistically significant differences in mortality risk were observed for income level or rurality. Exploratory models suggest that patients who did not receive genome-matched treatment with lower educational attainment had higher mortality risk (HR = 1.36, 95% CI = 1.09 to 1.69; P = .006). For patients who did receive genome-matched treatment, there was no difference in mortality risk between the education groups (HR = 1.01, 95% CI = 0.56 to 1.81; P > .9). CONCLUSION: Although there were no disparities in who received genome-matched treatment, we found a disparity in mortality associated with education level, which was more pronounced for patients who did not receive genome-matched treatment. Future research is warranted to investigate the intersectionality of social disadvantage with clinical outcomes to address survival disparities.

Urban-Rural and Socioeconomic Differences in Patient Knowledge and Perceptions of Genomic Tumor Testing.

PURPOSE: Social determinants of health, such as rurality, income, and education, may widen health disparities by driving variation in patients' knowledge and perceptions of medical interventions. This effect may be greatest for medical technologies that are hard to understand and less accessible. This study explored whether knowledge and perceptions (expectations and attitudes) of patients with cancer toward large-panel genomic tumor testing (GTT), an emerging cancer technology, vary by patient rurality independent of other socioeconomic characteristics (education and income). METHODS: Patients with cancer enrolled in a large precision oncology initiative completed surveys measuring rurality, sociodemographic characteristics, and knowledge and perceptions of GTT. We used multivariable linear models to examine differences in GTT knowledge, expectations, and attitudes by patient rurality, education, and income level. Models controlled for age, sex and clinical cancer stage and type. RESULTS: Rural patients had significantly lower knowledge of GTT than urban patients using bivariate models (P = .025). However, this association disappeared when adjusting for education and income level: patients with lower educational attainment and lower income had lower knowledge and higher expectations (P ≤ .002), whereas patients with higher income had more positive attitudes (P = .005). Urban patients had higher expectations of GTT compared with patients living in large rural areas (P = .011). Rurality was not associated with attitudes. CONCLUSION: Patients' education and income level are associated with knowledge, expectations, and attitudes toward GTT, whereas rurality is associated with patient expectations. These findings suggest that efforts to promote adoption of GTT should focus on improving knowledge and awareness among individuals with low education and income. These differences may lead to downstream disparities in GTT utilization, which should be explored in future research.

The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State.

PURPOSE: The Maine Cancer Genomics Initiative (MCGI) aimed to overcome patient- and provider-level barriers to using genomic tumor testing (GTT) in rural practices by providing genomic tumor boards (GTBs), clinician education, and access to comprehensive large-panel next-generation sequencing to all patients with cancer in Maine. This paper describes the successful implementation of the initiative and three key services made operative between 2016 and 2020. METHODS: A community-inclusive, hub-and-spoke approach was taken to implement the three program components: (1) a centralized GTB program; (2) a modular online education program, designed using an iterative approach with broad clinical stakeholders; and (3) GTT free of charge to clinicians and patients. Implementation timelines, participation metrics, and survey data were used to describe the rollout. RESULTS: The MCGI was launched over an 18-month period at all 19 oncology practices in the State. Seventy-nine physicians (66 medical oncologists, 5 gynecologic oncologists, 1 neuro-oncologist, and 7 pediatric oncologists) enrolled on the study, representing 100% of all practicing oncologists in Maine. Between July 2017 and September 2020, 1610 patients were enrolled. A total of 515 cases were discussed by 47 (73%) clinicians in 196 GTBs. Clinicians who participated in the GTBs enrolled significantly more patients on the study, stayed in Maine, and reported less time spent in clinical patient care. CONCLUSION: The MCGI was able to engage geographically and culturally disparate cancer care practices in a precision oncology program using a hub-and-spoke model. By facilitating access to GTT, structured education, and GTBs, we narrowed the gap in the implementation of precision oncology in one of the most rural states in the country.

Effects of online genetics education on physician assistant interviewing skills.

OBJECTIVES: This study was designed to evaluate the impact of an Internet-based educational program on clinically relevant communication behaviors. METHODS: A randomized trial enrolled 50 physician assistants (PAs); 40 PAs completed the trial (18 in the intervention group and 22 in the control group). Participants conducted simulated visits that were coded for completeness of family history, referral for genetic services, and overall interviewing style using the Roter Interaction Analysis System (RIAS). RESULTS: Compared with PAs in the control group, PAs who took the Web course elicited more complete family histories (7.2 vs 5.0 of a 13-member pedigree; t = 2.3, P < .05) and more detailed cancer histories (3.2 vs 2.3 of five affected family members; t = 2.7, P < .001) but did not make more genetics referrals. Overall, intervention-group PAs used a less patient-centered interviewing style than controls (1.9 vs 3.2; t = 2.8, P < .01). CONCLUSIONS: More comprehensive assessment of family history was associated with lower patient-centeredness, suggesting a need for caution with regard to unintended consequences of targeted communication interventions on interviewing style.

Epistemic Beliefs: Relationship to Future Expectancies and Quality of Life in Cancer Patients.

CONTEXT: Expectations about the future (future expectancies) are important determinants of psychological well-being among cancer patients, but the strategies patients use to maintain positive and cope with negative expectancies are incompletely understood. OBJECTIVES: To obtain preliminary evidence on the potential role of one strategy for managing future expectancies: the adoption of "epistemic beliefs" in fundamental limits to medical knowledge. METHODS: A sample of 1307 primarily advanced-stage cancer patients participating in a genomic tumor testing study in community oncology practices completed measures of epistemic beliefs, positive future expectancies, and mental and physical health-related quality of life (HRQOL). Descriptive and linear regression analyses were conducted to assess the relationships between these factors and test two hypotheses: 1) epistemic beliefs affirming fundamental limits to medical knowledge ("fallibilistic epistemic beliefs") are associated with positive future expectancies and mental HRQOL, and 2) positive future expectancies mediate this association. RESULTS: Participants reported relatively high beliefs in limits to medical knowledge (M = 2.94, s.d.=.67) and positive future expectancies (M = 3.01, s.d.=.62) (range 0-4), and relatively low mental and physical HRQOL. Consistent with hypotheses, fallibilistic epistemic beliefs were associated with positive future expectancies (b = 0.11, SE=.03, P< 0.001) and greater mental HRQOL (b = 0.99, SE=.34, P = 0.004); positive expectancies also mediated the association between epistemic beliefs and mental HRQOL (Sobel Z=4.27, P<0.001). CONCLUSIONS: Epistemic beliefs in limits to medical knowledge are associated with positive future expectancies and greater mental HRQOL; positive expectancies mediate the association between epistemic beliefs and HRQOL. More research is needed to confirm these relationships and elucidate their causal mechanisms.

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, and endometrial neoplasias. Many more patients with features of CS, not meeting diagnostic criteria (termed CS-like), are evaluated by clinicians for CS-related cancer risk. Germline mutations in succinate dehydrogenase subunits SDHB-D cause pheochromocytoma-paraganglioma syndrome. One to five percent of SDHB/SDHD mutation carriers have renal cell or papillary thyroid carcinomas, which are also CS-related features. SDHB-D may be candidate susceptibility genes for some PTEN mutation-negative individuals with CS-like cancers. To address this hypothesis, germline SDHB-D mutation analysis in 375 PTEN mutation-negative CS/CS-like individuals was performed, followed by functional analysis of identified SDH mutations/variants. Of 375 PTEN mutation-negative CS/CS-like individuals, 74 (20%) had increased manganese superoxide dismutase (MnSOD) expression, a manifestation of mitochondrial dysfunction. Among these, 10 (13.5%) had germline mutations/variants in SDHB (n = 3) or SDHD (7), not found in 700 controls (p < 0.001). Compared to PTEN mutation-positive CS/CS-like individuals, those with SDH mutations/variants were enriched for carcinomas of the female breast (6/9 SDH versus 30/107 PTEN, p < 0.001), thyroid (5/10 versus 15/106, p < 0.001), and kidney (2/10 versus 4/230, p = 0.026). In the absence of PTEN alteration, CS/CS-like-related SDH mutations/variants show increased phosphorylation of AKT and/or MAPK, downstream manifestations of PTEN dysfunction. Germline SDH mutations/variants occur in a subset of PTEN mutation-negative CS/CS-like individuals and are associated with increased frequencies of breast, thyroid, and renal cancers beyond those conferred by germline PTEN mutations. SDH testing should be considered for germline PTEN mutation-negative CS/CS-like individuals, especially in the setting of breast, thyroid, and/or renal cancers.

Differences in cancer patients' and clinicians' preferences for disclosure of uncertain genomic tumor testing results.

OBJECTIVE: To compare clinicians' and patients' preferences for disclosure of genomic tumor testing (GTT) results; to determine the sensitivity of these disclosure preferences to uncertainty about the actionability of results; and to explore factors associated with disclosure preferences. METHODS: Community-based oncology clinicians (n = 94) and patients (n = 1121) were surveyed about their preferences for disclosing GTT results with varying levels of uncertainty (Tiers 1, 2, 3). Descriptive and multivariable regression analyses were used to compare clinicians' and patients' disclosure preferences and their sensitivity to uncertainty, and to explore associations between disclosure preferences and sociodemographic, clinical, and psychological factors. RESULTS: Relatively more patients than clinicians preferred disclosure, and their preferences were less sensitive to the uncertainty of GTT results. For patients and clinicians, lower uncertainty sensitivity was associated with positive GTT attitudes; for patients it was also associated with greater uncertainty tolerance and knowledge of uncertainty in GTT. CONCLUSION: Relatively more cancer patients than clinicians prefer disclosure of GTT results, and their preferences are less sensitive to result uncertainty. Uncertainty sensitivity in disclosure preferences is associated with GTT-related attitudes and uncertainty tolerance. PRACTICE IMPLICATIONS: Differences in cancer patients' and clinicians' preferences for disclosure of uncertain GTT results warrant greater attention in cancer care.

Patients' Expectations of Benefits From Large-Panel Genomic Tumor Testing in Rural Community Oncology Practices.

Large-panel genomic tumor testing (GTT) is an emerging technology that promises to make cancer treatment more precise. Because GTT is novel and complex, patients may have unrealistic expectations and limited knowledge of its benefits. These problems may limit the clinical value of GTT, but their prevalence and associated factors have not been explored. METHODS: Patients with cancer enrolled in a large initiative to disseminate GTT in community oncology practices completed surveys assessing their expectations, knowledge, and attitudes about GTT. The study sample (N = 1,139) consisted of patients with a range of cancer types (22% gynecologic, 14% lung, 10% colon, 10% breast, and 46% other malignancies) and cancer stages (4% stage I, 3% stage II, 15% stage III, and 74% stage IV). Mean age was 64 years (standard deviation = 11); 668 (59%) were women; 71% had no college degree; 57% came from households with less than $50,000 US dollars household income; and 73% lived in a rural area. RESULTS: Generally, patients had high expectations that they would benefit from GTT (M = 2.81 on 0-4 scale) and positive attitudes toward it (M = 2.98 on 0-4 scale). Patients also had relatively poor knowledge about GTT (48% correct answers on an objective test of GTT knowledge). Greater expectations for GTT were associated with lower knowledge (b = -0.46; P < .001), more positive attitudes (b = 0.40; P < .001), and lower education (b = -0.53; P < .001). CONCLUSION: This research suggests patients have high expectations that they will benefit from GTT, which is associated with low knowledge, positive attitudes, and low education. More research is needed to understand the concordance between expectations and actual clinical outcomes.

An update on risk assessment for familial and hereditary colorectal cancer.

Family history risk assessment can identify individuals at increased risk of colorectal cancer (CRC) who would benefit from earlier or more frequent CRC screening. Clinicians should evaluate the patient's family history as well as personal history to identify red flags and patterns that may suggest predisposition to CRC and then use that information to stratify risk into average, increased, and high risk categories to inform genetic counseling recommendations and personalized management.

Somatic Testing: Implications for Targeted Treatment.

OBJECTIVE: To provide an overview of key considerations for somatic testing for the purpose of targeting cancer treatment. DATA SOURCES: Literature; research reports. CONCLUSION: Genomic testing of cancer cells to identify variants that drive the carcinogenic process is becoming common in clinical settings. Providers and patients need to weigh the potential benefits of testing with technologic and logistic issues. IMPLICATIONS FOR NURSING PRACTICE: Testing is available for thousands of genomic variants to identify one or more to guide targeted treatment. Oncology nurses need to understand the benefits and limitations of participating in patient-centered implementation of this testing.

Three things every nurse practitioner can do to integrate genetics into practice.

Genetic and genomic information has the potential to improve patient care and outcomes by improving clinicians' ability to identify patients at increased risk of disease and, in some cases, personalize treatment and management. However, many clinicians report that they feel unprepared and lack confidence in talking about genomics with their patients. By focusing on family history information and knowing when and how to refer to genetic experts, clinicians can take meaningful steps to improve integration of genetics into patient care.

Perceived Gaps in Genetics Training Among Audiologists and Speech-Language Pathologists: Lessons From a National Survey.

Purpose The aim of this study was to assess knowledge, self-rated confidence, and perceived relevance of genetics in the clinical practice of audiologists and speech-language pathologists (SLPs) toward a better understanding of the need for genetics education, given that genetics plays a growing role in the diagnosis of hearing impairment and communication disorders. Method A survey consisting of 8 demographic items and 16 content questions was returned by 233 audiologists and 283 SLPs. Knowledge of applied genetics was queried with clinical scenarios in a multiple-choice format. Self-assessment of clinical confidence and perceived relevance of genetics in one's field was queried with questions and statements rated on 5-point Likert scales. The benefit of additional training in genetics was rated with a yes/no question, and if answered with yes, suggested topics were entered. Results A large significant gap between confidence in one's own genetics skills and the perceived relevance of genetics was evident, regardless of professional group. Over one third of the audiologists and over two thirds of the SLPs indicated low or somewhat low confidence in their own ability to implement principles of genetics, whereas over two thirds of both groups agreed that genetics is relevant for their field. Regardless of group, confidence scores were significantly and positively associated with relevance scores. Over 80% of respondents in both groups indicated that they would benefit from additional training in genetics. Most commonly suggested topics included genetic causes, general information about genetics, and making referrals. Conclusion Both audiologists and SLPs felt that genetics is relevant for their fields and that additional training in genetics would be beneficial. Future studies should evaluate the effect of genetics training on patient outcomes and the need for incorporating genetics more extensively into audiology and speech-language pathology training programs.

Provider engagement in precision oncology education: an exploratory analysis of online continuing medical education data.

Given the rapid growth in genomic tests and targeted therapeutics, clinicians are likely to benefit from additional precision medicine education. Aim: This study evaluated the engagement and effectiveness of two interactive, case-based educational modules about somatic tumor testing, developed by the Jackson Laboratory, American Medical Association and Scripps Research Translational Institute, titled 'Precision Medicine for Your Practice'. Results: 402 participants enrolled in one or both free online continuing education modules, including physicians, nurses, scientists and genetic counselors and 41% completed module evaluations. Over 90% of respondents reported alignment of program with practice needs and planned to change their practice, including patient communication, identifying candidates for testing and/or interpreting test results. Conclusion: These findings support Precision Medicine for Your Practice as an effective education offering for diverse clinical professionals.