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PURPOSE: The success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge. METHODS: An online survey was administered to self-identified nephrologists working in the United States. Nephrologists' demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected. RESULTS: In total, 201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, and 37% had referred <5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to the genetic evaluation (P < .001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%). CONCLUSIONS: There is a need to enhance nephrologists' genetic education to increase genetic testing use in nephrology.

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Veterinarian competency in genetics is vital for a meaningful application of the rapidly growing number of genetic tests available for animals. We evaluated the use of genetic tests in the daily veterinary practice and the competency of university-employed veterinarians in applying basic principles of genetics in a clinical setting through an electronic survey with 14 cases and 7 statements on genetics. Ninety-one non-geneticist veterinarians from two veterinary faculties in two different countries responded. Almost half of the participants apply genetic tests during their daily work, with frequencies varying between weekly and once a year. The most common indication to request a genetic test was diagnostic testing of clinically ill patients. Although 80% of the veterinarians communicated the result of a genetic test themselves, only 56% of them found it "very to rather easy" to find the correct test, and only 32% of them always felt competent to interpret the result of the test. The number of correctly answered questions varied widely, with median scores of 9/14 (range: 0-14) and 5/7 (range: 0-7) for the cases and statements, respectively. Most difficulties were seen with recognition of pedigree inheritance patterns, while veterinarians scored better in breeding advice and probability of disease estimations. Veterinarians scored best on questions related to autosomal recessive inheritance, followed by complex, autosomal dominant, X-linked recessive, and X-linked dominant inheritance. This study exposed pain points in veterinarians' knowledge and has led to the formulation of recommendations for future education and communication between laboratories, geneticists, and veterinarians.

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BACKGROUND: The emergence of genetic and genomic sequencing approaches for pediatric patients has raised questions about the genomic health literacy levels, attitudes toward receiving genomic information, and use of this information to inform treatment decisions by pediatric patients and their parents. However, the methods to educate pediatric patients and their parents about genomic concepts through digital health interventions have not been well-established. OBJECTIVE: The primary objective of this scoping review is to investigate the current levels of genomic health literacy and the attitudes toward receiving genomic information among pediatric patients and their parents. The secondary aim is to investigate patient education interventions that aim to measure and increase genomic health literacy among pediatric patients and their parents. The findings from this review will be used to inform future digital health interventions for patient education. METHODS: A scoping review using PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews) guidelines and protocols was completed using the following databases: MEDLINE, Embase, CINAHL, and Scopus. Our search strategy included genomic information inclusive of all genetic and genomic terms, pediatrics, and patient education. Inclusion criteria included the following: the study included genetic, genomic, or a combination of genetic and genomic information; the study population was pediatric (children and adolescents <18 years) and parents of patients with pediatric illnesses or only parents of patients with pediatric illnesses; the study included an assessment of the knowledge, attitudes, and intervention regarding genomic information; the study was conducted in the last 12 years between 2008 and 2020; and the study was in the English language. Descriptive data regarding study design, methodology, disease population, and key findings were extracted. All the findings were collated, categorized, and reported thematically. RESULTS: Of the 4618 studies, 14 studies (n=6, 43% qualitative, n=6, 43% mixed methods, and n=2, 14% quantitative) were included. Key findings were based on the following 6 themes: knowledge of genomic concepts, use of the internet and social media for genomic information, use of genomic information for decision-making, hopes and attitudes toward receiving genomic information, experiences with genetic counseling, and interventions to improve genomic knowledge. CONCLUSIONS: This review identified that older age is related to the capacity of understanding genomic concepts, increased genomic health literacy levels, and the perceived ability to participate in decision-making related to genomic information. In addition, internet-searching plays a major role in obtaining genomic information and filling gaps in communication with health care providers. However, little is known about the capacity of pediatric patients and their parents to understand genomic information and make informed decisions based on the genomic information obtained. More research is required to inform digital health interventions and to leverage the leading best practices to educate these genomic concepts.

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Veterinarian competency in genetics is vital for a meaningful application of the rapidly growing number of genetic tests available for animals. We evaluated the use of genetic tests in the daily veterinary practice and the competency of university-employed veterinarians in applying basic principles of genetics in a clinical setting through an electronic survey with 14 cases and 7 statements on genetics. Ninety-one non-geneticist veterinarians from two veterinary faculties in two different countries responded. Almost half of the participants apply genetic tests during their daily work, with frequencies varying between weekly and once a year. The most common indication to request a genetic test was diagnostic testing of clinically ill patients. Although 80% of the veterinarians communicated the result of a genetic test themselves, only 56% of them found it "very to rather easy" to find the correct test, and only 32% of them always felt competent to interpret the result of the test. The number of correctly answered questions varied widely, with median scores of 9/14 (range 0-14) and 5/7 (range 0-7) for the cases and statements, respectively. Most difficulties were seen with recognition of pedigree inheritance patterns, while veterinarians scored better in breeding advice and probability of disease estimations. Veterinarians scored best on questions related to autosomal recessive inheritance, followed by complex, autosomal dominant, X-linked recessive, and X-linked dominant inheritance. This study exposed pain points in veterinarians' knowledge and has led to the formulation of recommendations for future education and communication between laboratories, geneticists, and veterinarians.

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OBJECTIVE: The aim of this study was to gain insight into the understanding of genetics and perceptions on the ethical issues related to genotype disclosure of the participants in a nutrigenetic study. METHODS: A close-ended questionnaire was developed based on literature and discussions among the research group members. The questionnaire contained a -total of 33 questions, which were divided into 4 categories - demographics, knowledge assessment, concerns related to participation, and opinions on disclosure of information. Majority of the participants (250 out of 281) of a nutrigenetic study, in which effect of disclosing APOE allele status on lifestyle changes was studied, completed the questionnaire online following the informed consent process. The responses from the knowledge assessment and the concern categories were transformed into knowledge and concern scales, respectively, and analysed by descriptive statistical methods. The statistical associations between the categorical variables were determined using χ2 test of independence. The relationship between the continuous variables was assessed using Pearson product-moment correlation coefficient and internal consistency of questions by Cronbach's alpha. RESULTS: No correlation was observed between the level of education and knowledge scores. About 10% of the participants thought that the genetic predisposition would be stressful to them and their family members. CONCLUSIONS: Careful distribution of information before a nutrigenetic study supports understanding and reduces concerns of genetic susceptibility. In Finland, strong basic education is likely to have strengthened the trust in research process.

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STUDY OBJECTIVES: Twin studies have provided data about the relative weight of genetic and environmental factors on sleep variables over the last few decades. However, heritability is a non-intuitive concept and it is often misunderstood even amongst the scientific community. This study aimed to analyze: (1) understanding of the meaning of heritability of insomnia; (2) the accuracy of estimations of heritability in the general population regarding three sleep traits (sleep duration, sleep quality and insomnia); (3) perceptions of the effectiveness of different treatments for insomnia depending on how the disorder is presented (i.e. having an environmental or genetic etiology) and whether the subject's estimate of genetic influence on sleep traits impacted beliefs about the effectiveness of different treatments. METHODS: Participants (N = 3658) completed a survey which included: questions about general genetic knowledge; a specific question about the meaning of heritability; estimates of heritability of three different sleep traits; and the effectiveness of different treatments for insomnia depending on how the etiology of this condition was presented. RESULTS: Fewer than 25% of the participants selected the correct description of the heritability of insomnia. Almost half of the sample incorrectly believed that heritability refers to the chance of passing a disorder onto their children. We also found that participants provided different estimates for the effectiveness of different treatments depending on the presumed etiology of the disorder. CONCLUSION: Most people do not have accurate knowledge about the concept of heritability. People's assumptions about the etiology of a disorder may influence which treatments they consider most effective.

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Successful translation of genetic information into patient-centered care and improved outcomes depends, at least in part, on patients' genetic knowledge. Although genetic knowledge is believed to be an important facilitator of familial communication of genetic risk information, empirical evidence of this association is lacking. We examined whether genetic knowledge was related to frequency of current familial communication about colorectal cancer and polyp (CRCP) risk, and future intention to share CRCP-related genomic test results with family members in a clinical sample of patients. We recruited 189 patients eligible for clinical CRCP sequencing to the eMERGE III FamilyTalk randomized controlled trial and surveyed them about genetic knowledge and familial communication at baseline. Participants were primarily Caucasian, 47% male, average age of 68 years, mostly well educated, and with high-income levels. Genetic knowledge was positively associated with future-intended familial communication of genetic information (odds ratio = 1.11, 95% confidence interval: 1.02-1.23), but not associated with current communication of CRC risk (ß = 0.01, p = .58). Greater current communication of CRC risk was associated with better family functioning (ß = 0.04, p = 8.2e-5). Participants' genetic knowledge in this study was minimally associated with their intended familial communication of genetic information. Although participants have good intentions of communication, family-level factors may hinder actual follow through of these intentions. Continued focus on improving proband's genetic knowledge coupled with interventions to overcome family-level barriers to communication may be needed to improve familial communication rates.

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PURPOSE: Genetic research, via the mainstream media, presents the public with novel, profound findings almost on a daily basis. However, it is not clear how much laypeople understand these presentations and how they integrate such new findings into their knowledge base. Genetic knowledge (GK), existing causal beliefs, and genetic essentialist tendencies (GET) have been implicated in such processes; the current study assesses the relationships between these elements and how brief presentations of media releases of scientific findings about genetics are consumed and affect the readers. METHODS: An Australian national survey of GK, GET, and existing causal beliefs about health phenomena (heart disease and obesity) was conducted. Participants were also exposed to news headlines that offered genetic and non-genetic partial explanations of the same health phenomena and reported their evaluations of these headlines, as well as the effects of the headlines on their personal understanding of the health phenomena. RESULTS: GK was negatively-associated with GET. Whereas GK did not directly predict the evaluation and effects of the genetic headlines, GET did. GK predicted the effects of the headlines indirectly via GET and via GET and existing causal beliefs. CONCLUSION: GET seem to predict unwarranted effects of exposure to news headlines about genetic science, whereas GK seems to indirectly mitigate the same unwarranted effects.

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The number of institutional and governmental biobanks and the target enrollment sizes of modern biobanks are increasing, affording more opportunities for the public to participate in biobanking efforts. In parallel with these expansions are pressures to increase the efficiency of obtaining informed consent using shorter consent forms that cover a broader scope of research and increasingly include provisions for return of research or clinical genetic test results to participants. Given these changes, how well these participants understand genetics, their level of understanding of what they are consenting to, and their wishes to engage longitudinally and receive biobank results are not well understood. We surveyed participants in a large, medical system-based biobank who had enrolled through a two-page, self-consent process about their baseline knowledge of genetics, understanding and recall of the consent process, wishes for future contact and engagement, and level of interest in receiving clinical genetic testing results. A total of 856 consented persons participated in the survey (67% women; 67% white). Participants' general reported genetics knowledge was relatively high (mean 11.60 of 15 questions answered correctly) as was recall of key elements from the two-page consent form. Overall participant enthusiasm for future contact by the biobank and for receiving clinical genetic testing results was high. The use of a two-page, self-consent process in a large, institutional biobank resulted in high levels of consent recall and enthusiasm for future ongoing engagement and receipt of genetic testing results by participants.

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Preconception expanded carrier screening (ECS) aims to identify couples with an increased risk of having a child with an autosomal recessive (AR) disorder before pregnancy, thereby enabling reproductive choices. Genetic knowledge and experiential knowledge both influence the uptake of ECS. As people in the general public often lack such knowledge, it is essential to provide appropriate and understandable information when offering ECS. This study investigated the effect of an educational video, compared to an educational text, on the knowledge and attitudes toward preconception ECS in the general population. Both the text and video consisted of a brief educational summary on AR inheritance and on the type of disorders included in ECS, with the progressive neurodegenerative condition mucopolysaccharidosis type III (MPS III) as an example. Participants in the reproductive age were invited in collaboration with a research agency. Respondents (N = 789) were offered an educational video prior to completing an online questionnaire that examined genetic knowledge, the perceived severity of MPS III, perceived risk, and attitudes toward ECS. Outcomes were compared to reference data collected previously in which respondents had been offered an educational text (N = 781). We first again studied the attitudes toward ECS in a smaller educational text group (N = 266) in order to assess whether attitudes had changed over time due to increased media coverage on ECS, which did not reveal any significant changes. Respondents who were offered the video had a better genetic knowledge, perceived MPS III as more severe, perceived their risks higher and were more likely to participate in ECS compared to those who were offered text. Online video may well be used as supportive tool to the genetic counseling process, creating more knowledge on ECS and severe genetic disorders included in preconception screening panels.

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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.

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BRCA1 and BRCA2 (BRCA1/2) testing is standard for individuals with personal and/or family history suggestive of hereditary breast and ovarian cancer syndrome. The indications for testing have been expanding. To accommodate the need, incorporation of cancer genetic services into the practice of non-genetic healthcare providers should be considered. We carried out a survey to evaluate the knowledge and opinions regarding BRCA1/2 testing among primary care providers. The survey was sent to 245 Obstetrics/Gynecology and 97 Family Medicine physicians in the UPMC network. Eighty-six completed the survey between July 2015 and September 2015. The average correct responses to knowledge questions was 73%. A few respondents reported being completely confident, and ~50% reported being somewhat confident, in providing BRCA1/2-related information. Respondents selected genetic specialists and oncologists as the most qualified to provide cancer genetic services. Several perceived barriers and motivating factors to the implementation of BRCA1/2 testing in primary care were identified. The findings from this study suggested that primary care providers were not uniformly ready to provide BRCA1/2 genetic testing. Availability of professional society guidelines and evidence of testing's usefulness might motivate the incorporation of BRCA1/2 genetic testing into primary care practices. These findings would help guide future educational efforts to promote provision of cancer genetic services by non-genetic professionals.

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In the past decade, accessible information in American Sign Language (ASL) about cancer and genetic testing is expanding on eHealth platforms, including social network sites, commercial sites, and mobile apps. Primary data on genetic testing awareness and genetic testing for BRCA 1/2 among Deaf women were gathered using HINTS-ASL survey between November 2016 and April 2018, and secondary data for hearing women were drawn from NCI's HINTS 5 Cycle 1 survey in 2017. Deaf women who had heard of DNA testing (63%) were more likely to be young adults, college graduates, and/or have a family history of cancer. Compared to hearing women, Deaf women who had heard of genetic testing were more likely to use social networking sites to read or share information about medical topics and watch health-related videos. Making eHealth platforms accessible in ASL and easy-to-understand text can help reduce knowledge gap in genetic testing, since some Deaf women may not be using genetic testing to help identify whether they are at increased risk for breast and ovarian cancer early on, before they are diagnosed with cancer.

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We live in an age of rapidly advancing genetic research. This research is generating new knowledge that has implications for personal health and well-being. The present study assessed the level of genetic knowledge and personal engagement with genetics in a large sample (N = 5404) of participants. Participants received secondary education in 78 countries, with the largest samples from Russia, the UK and the USA. The results showed significant group differences in genetic knowledge between different countries, professions, education levels and religious affiliations. Overall, genetic knowledge was poor. The questions were designed to assess basic genetic literacy. However, only 1.2% of participants answered all 18 questions correctly, and the average score was 65.5%. Genetic knowledge was related to peoples' attitudes towards genetics. For example, those with greater genetic knowledge were on average more willing to use genetic knowledge for their personal health management. Based on the results, the paper proposes a number of immediate steps that societies can implement to empower the public to benefit from ever-advancing genetic knowledge.

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OBJECTIVE: To better understand decision role preferences in women diagnosed with breast cancer at a young age for return of results of genome sequencing in research and clinical settings. METHODS: Participants were surveyed about communication and decision-making preferences related to genome sequencing results and factors that may affect these preferences. The primary outcome was decision role preference (Control Preference Scale) for selecting what results to receive within medical care or within a research study. RESULTS: For results returned as part of medical care, most patients preferred a collaborative (N = 481, 45%) or active (N = 488, 45%) role with only 107 (10%) choosing a passive role. When making the decision as part of a research study, most patients preferred an active role (N = 617, 57%), 350 (33%) choosing a collaborative role, and110 (10%) choosing a passive role. CONCLUSION: Most women in this study preferred to share in decision making. Participants had somewhat different role preferences for clinical and research contexts, with greater preference for active roles in the research context. PRACTICE IMPLICATIONS: We advocate for practice guidelines that incorporate discussion of decision role as an integral part of patient centered care and shared decision-making and recognize that more work is needed to inform guidelines.

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BACKGROUND: Genetic knowledge, which plays important functions in our understanding of science, health, social groupings, and even behaviour, has been evaluated in past studies with various populations. This wide reach of genetics means that different types of items are used to assess genetic knowledge, which restricts meaningful comparisons across time- and locale-based studies. AIM: The present study addresses this limitation by recruiting an Australia-wide sample and evaluating their genetic knowledge using items sourced from four diverse samples. METHOD: Seven hundred and eighty Australians completed a variety of items assessing their genetic knowledge as well as several demographic indicators. RESULTS: The results show superior overall genetic knowledge in the current sample compared with previous samples. Additionally, the study finds that genetic knowledge about health and illness seems to be the most accurate, whereas such knowledge about social categorisations and behaviours seems to be the most error-prone. In the current sample, being a female and having interest in genetics were positive predictors of genetic knowledge; surprisingly educational attainment was not a significant predictor. CONCLUSION: Compared with previous surveys, the current sample showed significantly better genetic knowledge. However, certain areas that relate to public understating still indicate rampant misperceptions.

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Information provision during BRCA1/2 genetic counseling is complex and expected to be increasingly so with gene panel testing. This prospective study evaluated whether genetic knowledge in counselees with breast cancer (BC) after a pre-test genetic counseling visit (T1) enhance their feeling of personal control while minimizing distress after the notification of BRCA1/2 result (T2). At T1, 243 (89% response rate) counselees completed questionnaires on genetic knowledge (BGKQ), perceived cancer genetic risk; of which, at T2, 180 (66%) completed the BGKQ again, scales of anxiety/depression, distress specific to genetic risk, and perceived control. Multilevel models were performed accounting for clinician, and testing an effect of knowledge on psychological outcomes according to the adequacy of counselees' perceived genetic predisposition to cancer. The mean knowledge score was moderate at T1, decreased while not significantly differing by BRCA1/2 test result at T2. Knowledge at T1 had no direct effect on psychological outcomes, but in counselees who over-estimated their cancer genetic risk, higher knowledge at T1 predicted higher specific distress at T2. In BC affected counselees who over-estimate their cancer genetic risk, higher BRCA1/2 pre-test genetic knowledge seem to lead to increased specific distress. Identifying these BC affected counselees who over-estimate their genetic cancer risk and helping them to interpret their genetic knowledge instead of providing them with exhaustive genetic information could minimize their distress after test result receipt.

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AIMS: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. METHODS: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. RESULTS: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending <20 min. Elements not routinely covered by >40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS. CONCLUSIONS: Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.

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OBJECTIVE: The objective of this study is to explore the discriminatory impacts of genetic diagnosis for people living with the chronic illness of hereditary haemochromatosis in Germany. METHODS: Semi-structured interviews with 15 patients; all had tested positive for a genetic mutation associated with haemochromatosis and already displayed symptoms of the disease. Inductive approach, with interviews collaboratively interpreted by the research group in a vertical and horizontal analysis informed by a multi-person perspective. RESULTS: First, as the genetic diagnosis of the disease holds the promise of therapeutic intervention, the interviewees perceived it as leading to relief. Second, the interviewees felt stigmatized by their family members, they complained of social isolation and a lack of acknowledgement of their health problems. Third, they feared disadvantages for themselves or their children at their place of work, when buying insurance coverage, and when attempting to donate blood. DISCUSSION: The findings point to the need for an expanded view on genetic discrimination. Besides institutional discrimination, it appears necessary to systematically address interactional stigmatization and take anxieties and fears into account. Here we see starting points for providing essential support through specialist and self-help groups to those faced with the genetic diagnosis of haemochromatosis in addition to and beyond the legal protection against genetic discrimination that already exists.

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The aim of this study is to draw a picture of the concerns that guide the decision making of Israeli religious undergraduate students and the complex considerations they take into account while facing the need to have genetic testing or to attend a genetic counseling session. We examined how the religious affiliation of the students influences their perceptions toward genetics and how these are expressed. Qualitative data were collected from 51 semi-structured interviews with students, in which recurring themes were identified using 'thematic analysis.' The codes from the thematic analysis were obtained according to 'grounded theory'. Our results show that religious undergraduate students' decision making in these issues is influenced by factors that fall under three main categories: knowledge and perceptions, values, and norms. In order to include all the components of influence, we created the Triple C model: "Culture influences Choices towards genetic Counseling" which aims to generalize the complex decision making considerations that we detected. Our model places religion, as part of culture, as its central point of influence that impacts all three of the main categories we detected. It also traces the bidirectional influences that each of these main categories have on one another. Using this model may help identify the sociocultural differences between different types of patients, helping genetic counselors to better assist them in addressing their genetic status by tailoring the counseling more specifically to the patient's cultural uniqueness.

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