Public Health Genomics最新文献

Introduction: Risk-based breast cancer screening aims to address persistent high morbidity and mortality. This study examined the experience of participants in the Women Informed to Screen Depending on Measures of Risk (WISDOM) trial who received a pathogenic variant in one of nine high or moderate penetrance breast cancer genes.

Methods: Participants completed a brief survey (n = 181) immediately following the results disclosure and 1 year later. Descriptive statistics were computed and comparisons between participants at different risk levels were performed using Fisher's exact and McNemar's tests. Analysis of qualitative interviews (n = 42) at 2-4 weeks and 6 months post-results disclosure compared responses at the 2 time points and explained and elaborated on the survey data.

Results: 66.3% of survey respondents felt very or moderately prepared to receive genomic results. At the T1 survey, 80.7% of participants had shared the genetic result with a blood relative, increasing to 88.4% at T2; providing information and encouraging cascade testing were the most common reasons for sharing. Communication with a blood relative, other healthcare providers beyond the primary care provider, and cascade testing were higher for participants with a high risk than low or moderate risk genomic finding. Qualitative interviews elucidated varied reasons why participants felt (un)prepared for the results, including whether or not they had a family history of breast cancer, and illustrated the complexity of decision-making about sharing results.

Conclusions: Although most participants communicated results with family members and healthcare providers in accordance with their risk level, questions remain about how to adequately prepare individuals to receive pathogenic results, ensure timely and accessible follow-up care, and facilitate genetic counseling and cascade testing of at-risk relatives in the setting of population risk-based screening.

Introduction: Genetic tests, including germline and tumor (somatic) testing, can optimize the clinical care and outcomes for cancer patients and their family members. However, evidence on cancer patients' use of genetic testing and discussions about it with healthcare providers is limited.

Methods: Study participants included cancer survivors aged 18 or older, drawn from the 2021 Health Information and National Trends Survey (HINTS)-Surveillance, Epidemiology, and End Results (SEER) linked database, which comprises three US cancer registries: Iowa, New Mexico, and the Greater Bay Area. Sociodemographic factors (e.g., age, sex, income, education) at the time of the survey and clinical characteristics (e.g., cancer site, stage) at the time of diagnosis were compared based on self-reported genetic testing status and provider discussions, using survey design-adjusted analysis.

Results: The weighted study sample comprised 415,978 cancer survivors with a mean age of 70.5 years at the time of the survey. Overall, 17.0% reported having germline testing, 8.5% having tumor testing, and 8.6% discussing tumor testing with their healthcare providers. Higher proportions of germline genetic testing were observed among survivors under age 65 at the time of the survey, females, holding college degrees, and with private insurance coverage compared to their respective counterparts - males, aged 65 or above when surveyed, with lower educational attainment, and with public insurance or uninsured. The proportion of those who reported tumor testing was greater for those diagnosed in recent years (2015-2017 vs. before 2002). Regarding clinical characteristics, survivors with ovarian and breast cancers had a 7.0-36.4% higher prevalence of both testing compared to those with other cancer types lacking germline indication. More cancer survivors diagnosed at distant stages (vs. regional) or between 2015 and 2017 (vs. 2003-2010) reported having provider discussions about tumor testing.

Conclusion: Findings showed that the highest reports of germline testing were among young female cancer survivors and those with higher education and private insurance. Survivors diagnosed in recent years or with advanced-stage disease were more likely to report discussing tumor testing with providers. Further research is warranted to better understand the barriers and educational needs of cancer patients, caregivers, and providers to optimize genetic testing strategies.

Introduction: The Implementing Universal Lynch Syndrome Screening (IMPULSS) study explained institutional variation in universal tumor screening (UTS) with the goal of identifying ways to aid organizational decision-makers in implementing and optimizing Lynch syndrome UTS programs.

Methods: After applying the Consolidated Framework for Implementation Research (CFIR 1.0) to analyze interviews with 66 stakeholders across 9 healthcare systems to develop a toolkit for implementation, we adapted the International Patient Decision Aid Standards (IPDAS) to assess toolkit potential to aid decision-making consistent with organizational values. We then conducted user testing with two experienced and four non-experienced implementers of UTS to improve the content and functionality of the toolkit and assess its acceptability and appropriateness.

Results: Toolkit components were organized to address findings related to CFIR 1.0 constructs of evidence strength and quality, relative advantage, cost, engaging, planning, executing, and reflecting and evaluating. A home page was added to direct users to different sections based on whether they are deciding to implement UTS, planning for implementation, improving an existing UTS program, or considering a different approach to identify patients with Lynch syndrome. Upon initial evaluation, 31 of 64 IPDAS criteria were met by the original toolkit. All users rated the toolkit as acceptable and appropriate for assisting organizational decision-making and identified multiple areas for improvement. Numerous iterative changes were made to the toolkit, resulting in meeting 17 of the previously unmet IPDAS criteria.

Conclusion: We demonstrate the rigorous development of a toolkit guided by the CFIR and show how user testing helped improve the toolkit to ensure it is acceptable, appropriate, and meets most IPDAS criteria relevant to organizational values-based decision-making.

Introduction: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served.

Methods: We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach.

Results: We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who could answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders.

Conclusion: Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.

This practice-related insight article describes the experience of a genetic counselor being integrated into a multidisciplinary primary care clinic that provides care for a predominantly marginalized patient population in Victoria, British Columbia, Canada. Reflections on the lessons learned, including challenges and successes during this 1-year pilot integration are shared by the genetic counselor in the context of exploring the potential value a genetic counselor can provide while embedded in a primary care clinic. The relationship between clinical genetic counseling practice and a culturally safe and trauma-informed approach in primary care is explored, and additional steps are described that can be taken to facilitate more equitable and inclusive access to genetic counseling services for underserved and vulnerable patient populations.

Introduction: Though it is well established that genetic information does not produce behavior changes, there are limited data regarding whether genetic counseling can facilitate changes in lifestyle and health behaviors that can result in improved health outcomes.

Methods: To explore this issue, we conducted semi-structured interviews with 8 patients who had lived experience of psychiatric illness and who had received psychiatric genetic counseling (PGC). Using interpretive description, we used a constant comparative approach to data analysis.

Results: Participants talked about how, prior to PGC, they held misconceptions and/or uncertainties about the causes of and protective behaviors associated with mental illness, which caused feelings of guilt, shame, fear, and hopelessness. Participants reported that PGC reframed things in a way that provided them a sense of agency over illness management, allowed a greater acceptance of illness, and provided release from some of the negative emotions associated with their initial framing of their illness, which seemed to be related to the self-reported increase in engagement in illness management behaviors and consequently improved mental health outcomes.

Conclusion: This exploratory study provides evidence to support the idea that through addressing emotions associated with perceived cause of illness and facilitating understanding of etiology and risk-reducing strategies, PGC may lead to an increase in behaviors, which protect mental health.