Type 2 diabetes mellitus (T2DM) genetic testing is undergoing clinical trials to measure the efficacy of genetic counseling for behavior-based risk reduction. The expectations patients bring to the testing process may play an important role in individual outcomes. We conducted a qualitative exploration of anticipated decision-making and expectations around T2DM genetic testing. Semi-structured interviews were completed with Mexican Americans (n = 34), non-Hispanic Black Americans (n = 39), and non-Hispanic White Americans (n = 39) at risk for T2DM. Transcripts were analyzed for themes. Most participants would accept T2DM genetic testing in order to motivate risk-reducing behaviors or apprise family members of their risk. Participants who would decline testing wished to avoid emotional distress or believed the test would not reveal new risk information. Non-Hispanic Whites and those with college education declined genetic testing more often than other groups. Those without college education were more likely to have testing expectations that were discordant with current science, such as conflating genetic testing with common ‘blood tests.’ Understanding expectations and decision-making factors around T2DM genetic testing will better prepare healthcare professionals to counsel their patients. This may lead to a higher efficacy of T2DM genetic testing and counseling.
Transgender and/or gender non‐binary (TGNB) individuals face significant health care disparities, including deficiencies in provider knowledge. To address this knowledge gap for genetic counselors, we developed, implemented, and analyzed an educational intervention on gender‐affirming genetic counseling (GC) and care for TGNB patients. In partnership with the TGNB community, we designed a 5‐module (length = 146 min ± 94 min) genetic counseling‐targeted online learning program focused on gender‐affirming care (Amplify). Content included elements of gender‐affirming care, core components of gender‐inclusive GC sessions, and cancer risk assessment/management. Video testimonials featuring TGNB individuals complemented learning within each module. Educational outcomes measured included comfort working with TGNB patients (n = 2 multiple choice questions (MCQs)), impact of education on knowledge (n = 25 MCQs), and clinical self‐efficacy based on the Accreditation Council for Genetic Counseling competencies (n = 35 skills). Participants (n = 40), recruited through state and national GC organizations, completed all modules, and pre‐ and post‐education/self‐efficacy assessments. Pre‐Amplify, 65% (n = 26/40) of participants endorsed feeling ‘somewhat comfortable’ working with TGNB patients. The average knowledge score was 77.6% (SD = 11.2%) with the lowest scores related to the gender affirmation process. After Amplify, overall knowledge improvement was statistically significant with an average 16.9% (p < 0.001) increase in score. Pre‐Amplify, the average self‐efficacy score was 78.4% (SD = 15.8%) with lowest scores seen in statements surrounding information gathering of family and medical histories. Post‐Amplify, overall self‐efficacy improvement was statistically significant with an average 13.8% (p < 0.001) increase in score. Linear regression did not identify an impact of practice specialty on participants’ knowledge gains or self‐efficacy. This study shows online modules are an effective form of gender‐affirming care education for GCs. This intervention can positively improve the care practicing genetic counselors provide to patients and inform future decision‐making about the development of gender‐affirming care education for genetic counselors.
Background: Individuals at increased risk for cancer are ascertained at low rates of 1% to 12% in primary care (PC). Underserved populations experience disparities of ascertainment, but data are lacking. INHERET is an online personal and family history tool to facilitate the identification of individuals who are eligible, according to guidelines, to be counseled on germline genetic testing and risk management. Patients and Methods: INHERET data entry uses cancer genetics clinic questionnaires and algorithms that process patient data through NCCN Clinical Practice Guidelines in Oncology and best practice guidelines. The tool was tested in silico on simulated and retrospective patients and prospectively in a pilot implementation trial. Patients in cancer genetics and in PC clinics were invited to participate via email or a card. Informed consent was completed online. Results: INHERET aimed to integrate patient data by algorithms based on professional and best practice guidelines to elicit succinct, actionable recommendations that providers can use without affecting clinic workflow or encounter length. INHERET requires a 4th-grade reading level, has simple navigation, and produces data lists and pedigree graphs. Prospective implementation testing revealed understandability of 90% to 100%, ease of use of 85%, and completion rates of 85% to 100%. Physicians using INHERET reported no added time to their encounters when patients were identified for counseling. In a specialty genetics clinic, INHERET’s data were input, on average, within 72 hours compared with 4 to 6 weeks through standard care, and the queue for scheduling patients decreased from 400 to fewer than 15 in <6 months. Conclusions: INHERET was found to be accessible for all education and age levels, except patients aged >70 years, who encountered more technical difficulties. INHERET aided providers in conveying high-risk status to patients and eliciting appropriate referrals, and, in a specialty clinic, it produced improved workflows and shortened queues.
10605 Background: Lynch syndrome (LS) and hereditary breast and ovarian cancer (HBOC) have a population prevalence of 1/2791 and 1/4002, respectively. Despite this, >80% of patients referred for cancer genetic counseling report personal or family history of breast cancer3. This disparity may be due to increased media attention for HBOC, lower levels of provider awareness of LS, and less discussion of colorectal cancer within families compared to breast cancer4. However, potential biases in National Comprehensive Cancer Network (NCCN) criteria for genetics evaluation (GE) have not been studied. This project examined the performance of NCCN guidelines for identifying individuals meeting criteria for GE ascertained through primary care (PC) settings. Methods: Individuals scheduled for routine PC appointments at three Michigan Medicine affiliated practices from 10/24/18 through 1/24/22 were emailed a link to complete an online personal and family history (P/FHx) risk assessment module (INHERET) collecting information about cancer diagnoses (age/cancer type) in 1st, 2nd, and 3rd degree relatives. The module was written at a 4th grade reading level and could be accessed on any internet-connected device. NCCN guidelines were applied to determine if patients met criteria for GE of HBOC and/or LS. Results: A total of 465 individuals completed the module; nearly one in three (30.6%, 142/465) met NCCN criteria for GE of HBOC or LS. Of those meeting criteria, 132 (92.9%) had no personal history of cancer. The most common indication for GE was HBOC (29.5%, 137/465) and 30 patients (6.5%) met HBOC referral criteria solely based on Ashkenazi Jewish ancestry. Only 17/465 (3.7%) individuals met NCCN criteria for GE of LS. Interestingly, 12/17 (70.6%) who met criteria for GE of LS also met criteria for GE of HBOC. The completion rate was not 100% and cannot be determined; it is not known how many patients were offered the option of completing the module. This limits the study, as ascertainment bias cannot be assessed. Conclusions: Nearly one-third of PC patients who completed the P/FHx module met NCCN criteria for genetic evaluation of HBOC and/or LS. Referrals for HBOC outnumber those for LS, even though LS is just as common1, 2, 3. Further evaluation of NCCN criteria is needed to evaluate whether patients may be over-referred for HBOC and/or under-referred for LS. Unfortunately, we were not able to confirm receipt of email invitations or accurately calculate completion rate of the P/FHX risk assessment module, which limited our ability to assess for ascertainment/response bias. [Table: see text]
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