Public Health Genomics最新文献

Introduction: Previous research indicates that population genomic screening can benefit individuals who act on the genetic results. However, there remains a significant gap between individuals receiving genetic information and acting on current risk management recommendations, prompting exploration of interventions to close this gap. This study aimed to determine the feasibility and acceptability and conduct a pilot implementation of existing evidence-based interventions (EBIs) for adherence to disease management for select genetic conditions among individuals ascertained through a population genomic screening program.

Methods: Surveys of and interviews with individuals who received a genomic screening result were conducted to assess barriers to guideline-recommended care and assess the acceptability of problem-solving (PS) and motivational interviewing (MI) EBIs to facilitate adherence to recommendations. A design thinking workshop was conducted with clinicians to co-develop an MI- and PS-based intervention that would fit with current workflows to be piloted. Post-pilot engagement sessions with implementers determined acceptability and feasibility of the MI/PS pilot program for clinical implementation and elicited proposed adaptations for improvement.

Results: PS and MI EBIs were reported to be acceptable and feasible to individuals with a result, and barriers to performing recommended management were identified. The pilot program included outreach by genetic counselors to individuals with a result, review of a checklist of barriers, and delivery of PS or MI as appropriate to facilitate care. The protocol as piloted was deemed acceptable and feasible for clinicians to deliver, with adaptations suggested.

Conclusion: These results will inform an effectiveness trial to address gaps in adherence in patients who have received actionable genomic results.

Introduction: Noninvasive prenatal testing (NIPT) can be used to detect fetal chromosomal abnormalities early in pregnancy. As eligibility criteria broaden and screening targets expand, gauging public acceptability of NIPT becomes increasingly important. Leveraging social media as a rich source of public discourse, the purpose of this study was to understand public opinions and attitudes toward NIPT on the social media platform Reddit.

Methods: We applied content and natural language processing techniques (i.e., sentiment analysis) to textual data collected from 4 Reddit communities focusing on the NIPT content posted from September 2012 to September 2022 (367 posts and 7,822 comments in total).

Results: Content analysis findings indicated that social media users consider NIPT to be worthwhile. Reasons NIPT was perceived to be not worthwhile related to unwanted anxiety, and the fact that NIPT results would not change anything about their approach to pregnancy were also expressed. The sentiment analysis identified more positive than negative emotions; the mean sentiment scores ranged from 0.48 to 1.22, depending on the specific Lexicon used. Specific emotions (i.e., trust, fear) were also identified.

Conclusion: Our novel approach to understanding public perception and attitudes toward NIPT yielded results that are consistent with conventional patient-oriented research methods. These findings may not only contribute to ongoing improvements in prenatal patient care, research, and policy but also indicate that sentiment analysis applied to social media data can serve as a suitable means to assess public acceptability of NIPT, particularly as public dialogue on this topic increases over time.

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.