Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Timeframe of More than 10 Years

Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

Familiarity and genetic literacy among medical students in Indonesia

Background There is a lack of genetic knowledge among health care professionals especially in some developing countries such as Indonesia. Based on our experience, genetic disorders receive less attention in medical education and professionals. This study aims to determine the familiarity and literacy of genetics among medical students in Indonesia. Methods A total of 1003 Indonesian medical (pre-clinical and clinical) students completed the Rapid Estimate of Adult Literacy in Genetics (REAL-G) questionnaire with a total score of seven for familiarity and eight for genetic literacy. The Mann-Whitney U test was used to compare the familiarity and genetic literacy scores between pre-clinical and clinical students. Results The average scores of familiarity and genetic literacy were 5.63 ± 0.96 and 6.37 ± 0.83, respectively. Genetic familiarity was higher (p = 0.043) among clinical students than pre-clinical students, while there was no significant difference in genetic literacy (p = 0.362) between pre-clinical and clinical students. Genetic familiarity does not impact the level of genetic literacy. However, medical students’ genetic literacy is influenced by demographic characteristics, such as age, sex, university type, genetic learning experience, university accreditation, and university location. Conclusions In general, Indonesian medical students have relatively good familiarity and literacy in genetics although further study is necessary to accurately measure the genetic familiarity and literacy in medical students and general public.

Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder

As genomic and personalized medicine is integrated into healthcare, the need for patients to understand and make decisions about their own genetic makeup increases. Genetic literacy, or one’s knowledge of genetic principles and their applications, measures an individual’s ability to apply genetic information to their own treatment. Increased genetic literacy can improve comprehension of genetic tests and therefore increase participation in testing to detect and treat genetic disorders. It can also help providers understand and explain genetic information to their patients. However, current research indicates that the population’s genetic literacy is generally low. Because many medical students, providers, and patients cannot adequately apply genetic information to their health, new and beneficial genetic technologies can be underused. More specifically, though genetic testing is recommended at the time of diagnosis for those affected by autism spectrum disorder (ASD), as few as 22% of families undergo genetic testing after diagnosis. While ASD, a neurodevelopmental condition characterized by impaired social communication and restricted interests, has both genetic and environmental risk, genetic testing can give clinicians useful information and help families avoid potentially painful and costly tests, even when many families do not receive a “positive” genetic result through microarrays or gene panels. Improving genetic literacy in populations affected by ASD can also improve attitudes toward genetic testing, thereby ensuring access to genetic health risk information. In this mini review, we discuss the current literature describing genetic literacy and genetic testing rates for ASD.

Genetics education program to help public health nurses improve their knowledge and enhance communities’ genetic literacy: a pilot study

Background As human genetics knowledge develops, public genetic literacy needs to be increased, though the educational capacity for this purpose has not yet been fully developed. Under this circumstance, the daily work of public health nurses can be viewed as an opportunity to enhance public genetic literacy. However, in Japan, there is not only a lack of public knowledge of human genomics but also a lack of public health nurses’ recognition about genomic literacy. A short-term education program was implemented as a pilot study. This study aimed to examine the effectiveness of the program to support public health nurses’ activity aimed at promoting health services-related genetic literacy. Methods The genetics education program was implemented in December 2019, in Kagoshima, Japan. Twenty-three public health nurses cooperated with the research. The program was composed of a case study on consultation, a lecture on hereditary diseases, and a discussion on the role of public health nurses. Familial hypercholesterolemia was used as the topic of the case study. We evaluated scores for cognition, affect, and psychomotor characteristics related to their learning goals before and after the program using Wilcoxon signed-rank tests. Answers in the consultation were qualitatively analyzed. Results The mean cognitive score, capturing provision of explanations of hereditary disease, was 6.3 before the program but increased significantly to 9.3 after the program (p < 0.001). For the affective score, the goal of which was deepening interest in human genetics, the mean score increased significantly from 8.5 before to 11.0 after (p < 0.001). For the psychomotor score, addressing the need for genetic consultation, the mean score increased significantly from 4.4 before to 8.1 after (p < 0.001). Prominent themes extracted from descriptions on the worksheet post training included, “providing advice and accurate information on genetic disorders” and “referral to a specialized organization.” Conclusions Our findings indicated that this education program helps public health nurses be positively involved in human genetic disorders. Thus, they may connect to their local community to provide accurate genetics knowledge and advice for health management and promoting genetic literacy.

Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report

<b><i>Introduction:</i></b> Pharmacogenetic (PGx) testing can be useful for providing information about a patient’s drug response by increasing drug efficacy and decreasing the incidence of adverse drug events. While PGx tests were previously only offered to patients under healthcare provider supervision, they are now available as direct to consumer (DTC) tests. This study aimed to assess how accurately individuals from the general population were able to interpret a sample PGx test report and if accuracy differed based on individuals’ numeracy or prior genetic counseling (GC). <b><i>Methods:</i></b> We surveyed 293 individuals from the general population, ascertained through ResearchMatch. The survey included questions about PGx test interpretation, numeracy, and genetic literacy. <b><i>Results:</i></b> In our cohort, numeracy level impacted PGx result interpretation, with those of high numeracy performing statistically significantly better on both the table format and graphical format (<i>p</i> value = 0.002 and <i>p</i> value &#x3c;0.001, respectively) and genetic knowledge questions (<i>p</i> value &#x3c;0.001) than those with low/average numeracy. In addition, previous GC did not impact test interpretation or genetic knowledge, but the number of individuals with prior GC was small (<i>n</i> = 26). <b><i>Discussion/Conclusion:</i></b> We found that numeracy had a significant impact on correct interpretation of PGx test reports. Because many individuals in the USA have low numeracy levels, it is extremely important that patients do not make their own medication management decision based on the test results and that they consult with their physicians about their PGx testing. The importance of consultation and discussion with providers about results should be emphasized on the test report.

GENETIC LITERACY LEVELS AND GENETIC SCREENING ATTITUDES ON MEDICAL STUDENTS IN INDONESIA: A NATIONAL SURVEY

Genetic literacy is an adequate knowledge that personally involves someone to comprehend and actively participate in genetic issues. An individual’s genetic literacy level will influence their decisiveness and attitudes towards reoccurring genetic issues, including genetic screening. This research aimed to discover the relation between genetic literacy levels and genetic screening attitudes of medical students in Indonesia. The data were collected using a cluster sampling method composing of 492 students from 41 universities in Indonesia. Subjects filled the questionnaires, which have underwent validity and reliability test using online modality under local supervisors. Genetic literacy levels were divided into two categories: adequate (>50%) and inadequate (<50%) levels, whereas the genetic screening attitude was categorized into consent and dissent. Of 492 respondents, only 121 people (24.59%) have adequate genetic literacy levels. The study also reports that 262 respondents (60.16%) agreed to the use of genetic screening. Using regression logistic, study found there was no relationship between genetic literacy and attitudes (p>0.05). Disagreements about using genetic screening are more prevalent among female respondents rather than male respondents. The study showed no relationship between genetic literacy levels and genetic screening attitudes of medical students in Indonesia.