Knowledge and misconceptions of the French population regarding medical genetics: a survey of 3,000 respondents

Non-genetic physicians’ self-assessment of knowledge and confidence toward genetic testing and counseling: a national survey in a high consanguineous population

Knowledge, Attitudes, and Perceived Barriers to Genetics and Precision Medicine Among Rural Participants in a Large Academic Biobank: A Mixed-Methods Study

Background/Objectives: Rural populations remain underrepresented in genomic research and may face unique barriers to accessing genetic and precision medicine services. This study evaluated knowledge, attitudes, beliefs, and perceived barriers related to genetics and precision medicine among rural participants enrolled in OneDukeGen (ODG), a large academic biobank and precision medicine research initiative. Methods: This mixed-methods study included rural ODG participants identified using U.S. Census Bureau rural classification code. Participants completed an online survey assessing genetics knowledge, attitudes toward genetic testing and precision medicine, healthcare utilization, and internet use. Semi-structured interviews were conducted with a subset of survey participants to further explore perceptions of genetics research, barriers to care, privacy concerns, and educational needs. Results: Among 10,305 ODG participants, 3268 (31.7%) were classified as rural, representing 97 of North Carolina’s 100 counties. A total of 111 rural participants completed surveys and 14 participated in qualitative interviews. Participants generally demonstrated favorable attitudes toward genetics and precision medicine despite moderate genetics knowledge scores. Most participants believed genetic testing could improve disease prevention and treatment selection, particularly for cancer care and pharmacogenomics applications. Qualitative interviews identified three major thematic domains: (1) perceived value and promise of genetics, (2) concerns regarding privacy, trust, and misuse of genetic information, and (3) barriers and facilitators to accessing genetic services. Participants generally viewed genetics research positively but expressed concerns regarding cost, insurance coverage, privacy, and genetic discrimination. Conclusions: Rural participants generally expressed positive attitudes toward genetics and precision medicine; however, substantial barriers related to cost, trust, privacy, awareness, and digital access remain. Community-engaged approaches emphasizing accessibility, provider education, and culturally appropriate communication may be critical for equitable implementation of precision medicine in rural communities.

A nationwide survey on attitudes of obstetricians and gynecologists toward comprehensive prenatal genetic testing in Japan.

Challenges of genomic testing for patients and clinicians in Latin America: Foundations of a qualitative multi-country study.

Genomic medicine is expanding across Latin America (LATAM), yet access to essential ancillary services such as genetic counselling remains limited. 'Latin-SEQ' is a study that provides whole exome sequencing (WES) for neuromuscular diseases across 18 countries, aiming to improve diagnostic rates and generate region-specific genetic insights. However, funding constraints exclude genetic counselling and cascade testing, raising concerns about equitable and harm-free care. This paper reports early findings from 'Latin-SEQ Plus,' a mixed-methods study exploring patient and healthcare practitioner (HCP) perspectives on WES and genetic counselling. Data were generated via surveys with patients and HCPs, and participatory workshops with HCPs across six countries. We found that patients strongly valued genetic testing for diagnostic clarity, improved care, and family planning. HCPs acknowledged the diagnostic benefits of WES but highlighted absence of local genetic counselling services, inconsistent pre and post-test practices, and uncertainty in managing incidental findings and variants of uncertain significance (VUS). Psychological impacts related to WES results are not always addressed, underscoring risks of psychological and emotional harm for patients. Access to WES and genetic counselling is limited in LATAM due to financial hardship and the absence of a clear genetic counselling infrastructure. Our findings also reveal a mismatch between patient expectations and HCPs' capacity to deliver comprehensive genomic care. We argue for urgent investment in genetic counselling infrastructure, HCP training, culturally tailored resources, and policy frameworks to support equitable implementation of genomic medicine in LATAM.

Trends in awareness and uptake of genetic testing among the United States population, 2011–2022

While genetic testing (GT) has become more available over the past decade, it is unclear whether public awareness and use have increased proportionally. We aimed to evaluate national trends in GT awareness and usage. We performed a cross-sectional analysis of nationally representative data from the National Cancer Institute’s Health Information National Trends Survey (HINTS). We analyzed survey responses from HINTS 4 Cycle 1–4 (2011–2014), 5 Cycle 1 and 4 (2017, 2020), and 6 (2022). Primary outcomes were overall genetic testing awareness and uptake. Secondary analyses evaluated awareness and uptake of health-related genetic testing (e.g. disease risk, cancer, and carrier testing) among survey cycles in which specific testing modalities were available. Linear regression assessed crude trends and multivariable logistic regression estimated odds ratios (OR). Among 22,256 respondents, overall awareness of GT increased from 36.6% in 2011 to 81.7% in 2022 (trend p < .001). Awareness was lower among individuals who were older (e.g., ref: age 18–34, age 75+: OR 0.53, 95% confidence interval [CI]: 0.43–0.64), male (ref: female, OR 0.85, CI: 0.77–0.95), non-Hispanic Black (ref: non-Hispanic White, OR 0.63, CI: 0.54–0.74), non-Hispanic Asian (ref: non-Hispanic White, OR 0.38, CI: 0.29–0.48), Hispanic (ref: non-Hispanic White, OR 0.60, CI: 0.52–0.69), with less than a college education (e.g., ref: some college, less than high school: OR 0.60, CI: 0.47–0.77), and with annual household income <$75,000 (e.g., ref: >$75,000, <$20,000: OR 0.49, CI: 0.42–0.59). GT uptake increased from 21.4% in 2020 to 35.6% in 2022 (trend p < .001). GT uptake was lower among individuals who were non-Hispanic Asian (ref: non-Hispanic White, OR 0.60, CI: 0.38–0.96) and had household incomes <$35,000 (e.g., ref: >$75,000, <$20,000: OR 0.68, CI: 0.49–0.94), but higher among those with a personal history of cancer (ref: no cancer history, OR 1.44, CI: 1.07–1.92). Although GT awareness has grown, there are notable gaps across sociodemographic groups. Further study should better characterize factors influencing health-related GT uptake patterns.

Medicolegal and ethical concerns in genetic tests communication

The purpose of this paper is to provide an overview of the state of the art on the communication of genetic test results in both clinical and judicial practice in Europe, with a specific focus on Italy.