Assessing the acceptability and appropriateness of a psychoeducational graphic novel about inherited cancer risk designed for men.

Men with germline pathogenic variants in BRCA1 or BRCA2 genes are at an increased lifetime risk for developing breast cancer, prostate cancer, and pancreatic cancer. Men report that managing clinical care is challenging because they are under-informed about their cancer risks. As the demand for genetic testing has increased, so too has the need to relay accurate and relatable genetic health information. This research developed and assessed the acceptability and appropriateness of a psychoeducational graphic novel designed for men to improve their cancer risk knowledge, manage their cancer-related uncertainty, and increase their intent to disclose their BRCA1/2 risks to family members and healthcare providers. Through purposive and snowball sampling, men (n = 20) and certified genetic counselors (CGCs; n = 15) participated in semi-structured interviews assessing the acceptability and appropriateness of the graphic novel. Interviews were audio-recorded, transcribed, and thematically analyzed. Both reported that the graphic novel confirmed risk information provided helpful resources, included relatable storylines, and had a unique visual appeal. Some men remained unsure about how to perform recommended screenings and how to talk to family members, particularly children, about BRCA1/2 test results after assessing the graphic novel. CGCs also discussed the helpfulness of the graphic novel for their practice. Given that this psychoeducational graphic novel was appealing to men and CGCs, it shows promise as an acceptable approach that may assist men in managing their cancer risks and communicating their genetic risk information to family members and healthcare providers.

Creation and beta testing of a "choose your own adventure" digital simulation to reinforce motivational interviewing skills in genetic counseling.

Standardized patients and/or role-playing are commonly used for practicing genetic counseling (GC) skills. Use of digital simulation, incorporating gamification elements, would require fewer resources to sustain than standardized patients. This manuscript reports steps taken and the lessons learned from creating a digital "Choose your own adventure" simulation in which students select preferred dialog for a genetic counselor who is seeing an adult patient to discuss genetic testing for the known pathogenic variant that caused familial adenomatous polyposis (FAP) in their father. The case has three endings, one of which is attained by selecting options that are mostly consistent with motivational interviewing counseling techniques. We conducted a preliminary evaluation of our beta version among nine GC students and one educator using a survey to assess acceptability and appropriateness as well as to elicit open-ended feedback. All participants agreed or strongly agreed with statements indicating the case was acceptable, appropriate, and fun. Users particularly appreciated the immediate feedback given throughout the case simulation. Many users wanted more options to select from and listed various other recommendations, including several which would require substantial resources to implement.

Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.

PURPOSE: Following disclosure of pathogenic or likely pathogenic variants in hereditary cancer genes, patients face cancer risk management decisions. Through this mixed-methods study, we investigated cancer risk management decisions among females with pathogenic or likely pathogenic variants in PALB2, CHEK2, and ATM to understand why some patients follow National Comprehensive Cancer Network guidelines, whereas others do not. METHODS: Survey and interview data were cross-analyzed using a 3-stage approach. Identified factors were used to conduct coincidence analysis and differentiate between combinations of factors that result in following or not following guidelines. RESULTS: Of the 13 participants who underwent guideline inconsistent prophylactic surgery, 12 fit 1 of 3 unique patterns: (1) cancer-related anxiety in the absence of trust in care, (2) provider recommending surgery inconsistent with National Comprehensive Cancer Network guidelines, or (3) surgery occurring before genetic testing. Two unique patterns were found among 18 of 20 participants who followed guidelines: (1) anxiety along with trust in care or (2) lack of anxiety and no prophylactic surgery before testing. CONCLUSION: Health care provider recommendations and trust in care may influence whether individuals receive care that is congruent with risk levels conferred by specific genes. Interventions are needed to improve provider knowledge, patient trust in non-surgical care, and patient anxiety.

Applying the framework for developing and evaluating complex interventions to increase family communication about hereditary cancer.

Objective: Evaluate an intervention to increase family communication (FC) of positive hereditary cancer test results using the Framework for Developing and Evaluating Complex Interventions (FDECI). Methods: We developed 'programme theory' during the FDECI development phase by aligning intervention components with behavior change techniques (BCTs) and theoretical factors expected to improve FC. During the feasibility phase, we obtained feedback from 12 stakeholder interviews. Results: Intervention components aligned with a total of 14 unique BCTs for which prior evidence links the BCT to theoretical factors that influence behavior change. Constructive stakeholder feedback included: more information desired, rewording to support autonomy by highlighting options, and improvements to navigation, visuals, and audio. Positive comments included: comprehensiveness of materials, modeling of conversations, and usefulness of the materials for helping a person prepare to share positive test results. Conclusion: The first FDECI phases were helpful for improving the intervention and planning our ongoing effectiveness and future implementation phases. Innovation: Our application of the FDECI is novel, including plans to test our 'programme theory' using coincidence analysis (CNA) to determine who accesses which intervention materials, how utilizing certain materials impact the aligned theoretical factors, and whether these in turn make a difference in the behavioral outcome.

Proposed outcomes measures for state public health genomic programs.

PURPOSE: To assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy. METHODS: In this paper, we present the efforts to identify performance objectives and outcome metrics. Specific attention is placed on measures related to hereditary breast ovarian cancer (HBOC) syndrome and Lynch syndrome (LS), two conditions with existing evidence-based genomic applications that can have immediate impact on morbidity and mortality. RESULTS: Our assessment revealed few existing outcome measures. Therefore, using an implementation research framework, 38 outcome measures were crafted. CONCLUSION: Evidence-based public health requires outcome metrics, yet few exist for genomics. Therefore, we have proposed performance objectives that states might use and provided examples of a few state-level activities already under way, which are designed to collect outcome measures for HBOC and LS.

A success of a genetics educational intervention for nursing and dietetic students: A model for incorporating genetics into nursing and allied health curricula.

Allied health care professionals and nurses provide genetic-related client services, such as eliciting family medical history information and discussing the genetic component of health conditions. However, these professionals report a lack of confidence in their ability to perform genetic services and have little formal education in genetics. A barrier to incorporating genetics into allied health curricula includes the limited flexibility to expand curricula. This barrier was addressed by incorporating a Web-based tutorial on basic genetics and a lecture on the genetics of diabetes into preexisting undergraduate nutrition courses for nursing and dietetic students. The vast majority of students enrolled in these required courses participated in the intervention. Most participants agreed that genetics is important to their future career. Following the intervention, students' knowledge of genetics and confidence in their ability to provide genetic-related services increased significantly. Despite the short-term success and positive student evaluations, a single educational intervention does not appear to be sufficient for students to become proficient in performing the recommended genetic competencies for all health care professionals. Recommendations and resources for incorporating genetics into allied health curricula are included.

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Antley-Bixler syndrome (ABS) is a rare condition characterized by radiohumeral synostosis, craniosynostosis, midface hypoplasia, bowing of the femora, multiple joint contractures, and urogenital defects. Several reports have implicated errors of steroid or sterol metabolism in the pathogenesis of ABS. Evidence for this has included association with maternal luteomas, fetal 21-hydroxylase deficiency, early pregnancy exposure to high-dose fluconazole, lanosterol 14-alpha-demethylase deficiency, and a unique urinary steroid profile consistent with apparent pregnene hydroxylation deficiency (APHD). We report two sibs with classic ABS. During both pregnancies, mid-trimester maternal serum screening demonstrated undetectable levels of uncongugated estriol (uE3). The brother had ambiguous genitalia and increased serum levels of progesterone and 17-alpha-hydroxyprogesterone. Postnatal tests performed on the sister demonstrated both the unique urinary steroid profile that defines APHD and evidence of impaired lanosterol 14-alpha-demethylase activity. Our results suggest that in at least some patients with ABS, the skeletal findings and altered steroidogenesis are not associated with genes specific to individual sterol or steroid pathways but rather are related to an element, such as NADPH cytochrome P450 reductase (CPR) or cytochrome b5 (CYb5), that is common to all of these pathways.