GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.

With the broader introduction of genomic medicine in research and clinical care, an increasing number of persons are offered genetic testing. Many factors, including genetic literacy, may impact the utilization of genetic results by patients and their families. We developed a rapid, self-administered measure of genetic literacy, called Genetic Literacy Fast Test (GeneLiFT). We next evaluated the association of GeneLiFT scores with the comprehension of limitations of genomic medicine in participants undergoing genetic testing in the NIH-sponsored eMERGE III study at Columbia University Irving Medical Center, New York. All participants underwent genetic screening for variants in 74 actionable genes associated with adult-onset disorders. A diverse cohort of 724 participants completed the survey (60% women, 45% less than 40 years old, and 53% self-reported White non-Hispanic ancestry). The GeneLiFT was validated using known group differences based on education, health literacy, and numeracy, and with questions assessing genetic knowledge. GeneLiFT identified multiple standard genetics terms, that is, jargon, not recognized by more than 50% of participants (including actionability and pathogenicity). Low genetic literacy, identified in 210 participants (29%), was significantly associated with poor understanding of the limitations of genetic testing (p-values < 10-9 ). This association was independent of education, health literacy, and numeracy levels, highlighting the importance of directly measuring genetic literacy. Low genetic literacy was also associated with low satisfaction with the informed consent process. GeneLiFT is a practical tool for rapid assessment of genetic literacy in large studies or clinical care. GeneLiFT will allow future research to efficiently assess the role of genetic literacy on the clinical impact of genetic testing.

Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.

PURPOSE: Recruitment of participants from diverse backgrounds is crucial to the generalizability of genetic research, but has proven challenging. We retrospectively evaluated recruitment methods used for a study on return of genetic results. METHODS: The costs of study design, development, and participant enrollment were calculated, and the characteristics of the participants enrolled through the seven recruitment methods were examined. RESULTS: A total of 1118 participants provided consent, a blood sample, and questionnaire data. The estimated cost across recruitment methods ranged from $579 to $1666 per participant and required a large recruitment team. Recruitment methods using flyers and staff networks were the most cost-efficient and resulted in the highest completion rate. Targeted sampling that emphasized the importance of Latino/a participation, utilization of translated materials, and in-person recruitments contributed to enrolling a demographically diverse sample. CONCLUSIONS: Although all methods were deployed in the same hospital or neighborhood and shared the same staff, each recruitment method was different in terms of cost and characteristics of the enrolled participants, suggesting the importance of carefully choosing the recruitment methods based on the desired composition of the final study sample. This analysis provides information about the effectiveness and cost of different methods to recruit adults for genetic research.

Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.

The original version of this Article contained an error in the undergraduate degree awarded to the author Ian Halim, which was incorrectly given as BS. This has now been corrected to BA in both the PDF and HTML versions of the Article.

Dual Incontinence and Risk of Fall: A Retrospective Cohort Study.

IMPORTANCE: Although there is a known association between urinary incontinence (UI) and fall risk, it is unclear if having both UI and fecal incontinence, or dual incontinence (DI), increases this risk. OBJECTIVE: The objective of our study was to elucidate a relationship between DI and falls. STUDY DESIGN: This was a retrospective cohort study at a tertiary academic health system of female patients 65 years and older presenting for a new patient visit to a urogynecology health care professional for UI from 2019 to 2021. Demographic data and responses to intake questionnaires on fall and markers of frailty were extracted. Multivariable logistic regression was performed to identify factors associated with fall adjusting for covariates identified upon univariate comparison. RESULTS: A total of 2,814 women were included in the analysis; 2,661 patients reported UI alone, and 153 reported DI. A greater proportion of women with DI reported a fall in the past year compared with those with UI alone (22.9% vs 12.2%, P < 0.001). Univariable comparison showed that these 2 groups differed regarding age, body mass index, and estimated median household income. On multivariable logistic regression, DI was significantly associated with falls (adjusted odds ratio 2.56; 95% confidence interval, 1.02-5.46). Other factors independently associated with falls in older women with UI include (adjusted odds ratio, 95% confidence interval): lower income groups (2.35, 1.50-3.67 for $20,000-$40,000, compared with $100,000 and higher-income group), difficulty with activities of daily living (1.60, 1.25-2.13), and unintentional weight loss (1.68, 1.05-2.68). CONCLUSION: Patients with DI have a 2-fold higher risk of fall compared with patients with UI alone.