Awareness Of Genetic Testing Research Articles

P663: A community based participatory research pilot project to increase awareness of cancer-related genetic counseling and testing through communication asset mapping

P663: A community based participatory research pilot project to increase awareness of cancer-related genetic counseling and testing through communication asset mapping

Real-World Study of Regional Differences in Patient Demographics, Clinical Characteristics, and BRCA1/2 Mutation Testing in Patients with Human Epidermal Growth Factor Receptor2-Negative Advanced Breast Cancer in the United States, Europe, and Israel.

Genetic mutations in breast cancer susceptibility gene1 or 2 (BRCA1/2) confer a high risk for developing breast cancer; however, at least 50% of women with BRCA1/2 mutations go undiagnosed. This study evaluated differences in patient demographics, clinical characteristics, and BRCA1/2 mutation testing in the USA, European Union (EU4), and Israel in a real-world population of patients with human epidermal growth factor receptor2-negative (HER2-) advanced breast cancer (ABC). This study was a retrospective analysis of data from the Adelphi Real World ABC Disease Specific Programme in the USA, EU4, and Israel. Medical oncologists completed a patient record form, which included detailed questions on demographics, clinical assessments and outcomes, and treatment history. Eligible patients were at least 18years of age and receiving therapy for stageIIIb-IV ABC. Among the 2527 study patients, 407 were from the USA, 1926 were from the EU4, and 194 were from Israel; 86% had hormone receptor-positive (HR+)/HER2- ABC and 14% had triple-negative breast cancer (TNBC). Israeli patients had a higher rate of family history of BRCA-related cancer (69%) compared with patients in the EU4 (18%; p < 0.0001) and USA (18%; p < 0.0001). Among patients with HR+/HER2- ABC, the BRCA1/2 testing rate was 99% in Israel, 37% in the EU4, and 68% in the USA (p < 0.0001 vs Israel and the EU4). The age of tested patients was significantly younger in Israel (56years) compared with the EU4 (59years; p = 0.016 vs Israel) and USA (64years; p < 0.0001 vs Israel and the EU4). Among patients with TNBC, the BRCA1/2 testing rate was 100% in Israel, 78% in the EU4 (p < 0.0001 vs Israel), and 93% in the USA (p < 0.002 vs the EU4). Among tested patients, genetic counseling rates were also higher in Israel (98%) compared with the EU4 (40%; p < 0.0001) and USA (38%; p < 0.0001). Testing and genetic counseling ratesfor BRCA1/2 mutations were very high in Israel, potentially due to the high rate of family history of BRCA-related cancer in this population and higher general awareness of genetic testing. In the EU4 and USA, overall rates of testing for BRCA1/2 mutations and genetic counseling were significantly lower compared with Israel. Given the high risk of breast cancer in BRCA1/2 mutation carriers and the efficacy of new therapies in treating ABC with a BRCA1/2 mutation, efforts should be made to improve BRCA1/2 testing rates in Europe and the USA.

Attitudes, Perceptions, and Use of Cancer-based Genetic Testing Among Healthy U.S. Adults and Those With Prostate or Breast/Ovarian Cancer.

Differences in public awareness and uptake of genetic testing among patients with inheritable cancers are not well understood. The purpose of this study is to examine self-reported rates of undergoing cancer-specific genetic testing in patients with breast/ovarian cancer vs prostate cancer from a nationally representative sample of U.S. Secondary objectives include examining sources of genetic testing information and perceptions of genetic testing for both patient populations as well as the general public. Data from the National Cancer Institute's Health Information National Trends Survey 5, Cycle 4 were used to generate nationally representative estimates of adults living in the U.S. Our exposure of interest was patient reported cancer history categorized as having: (1) either breast or ovarian cancer, (2) prostate cancer, or (3) no history of cancer. χ2 testing was used to compare differences among categorical variables. In a nationally representative sample of 231.7 million adults, 3.7 million adults reported a history of breast/ovarian cancer while 1.5 million patients reported a history of prostate cancer; 52.3% of patients with breast/ovarian cancer vs 1.0% with prostate cancer reported undergoing cancer-specific genetic testing (P = .001). Patients with prostate cancer were less aware of cancer-specific genetic testing than either individuals with breast/ovarian cancer or adults without a cancer history (19.7% vs 64.7% vs 35.8%, respectively; P = .003). Health care professionals were the most common source of genetic testing information for patients with breast/ovarian cancer whereas the Internet was the most common source for patients with prostate cancer. Our results suggest a lack of awareness and limited utilization of genetic testing among patients with prostate cancer relative to breast/ovarian cancer. Patients with prostate cancer cite the Internet and social media as sources of information, which may be an avenue for more optimal dissemination of evidence-based information.

Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020

Genetic testing is a tool used in a variety of settings for medical and nonhealth related purposes. The goal of this analysis was to better understand the awareness and use of genetic testing in the United States. Data from the 2020 Health Information National Trends Survey 5 cycle 4 were used to assess the awareness and use of genetic testing by demographic characteristics, personal cancer history, and family cancer history. Overall, 75% of participants were aware of genetic testing and 19% of participants had genetic testing. Ancestry testing was the most common type of testing that the participants were aware of and had received. Non-Hispanic Asian, Non-Hispanic Black, and Hispanic respondents and participants with incomes less than $20,000 were less likely to be aware of and have received any type of genetic testing than the Non-Hispanic White participants and participants with higher income, respectively. Participants with a family history of cancer were more likely to be aware of cancer genetic testing than those without, and participants with a personal history of cancer were more likely to have had cancer genetic testing. It appears awareness of genetic testing is increasing in the United States, and differences in awareness persist by race/ethnicity and income.

Awareness of positive genetic testing for familial hypercholesterolemia encourages better adherence to triple-combined lipid-lowering therapy

Background and Aims : To assess the impact of awareness of genetic testing for familial hypercholesterolemia (FH) on the adherence to the lipid-lowering therapy (LLT).Methods: Patients ≥18 y.o. with “probable” or “definite” FH according to the DLCN criteria were included (n=82). The study consists of three visits (follow-up is 6 months) with a block randomization with a 2:1 allocation ratio (with: without genetic testing). The results of genetic testing were reported at the second visit. Patients were divided into 3 groups: I - with "positive" genetic testing (n=38); II - with "negative" genetic testing (n=19); III - without genetic testing (n=25). Fisher's test was used for statistical analysis. The study was registered on ClinicalTrials (NCT04656028).Results: Individuals with FH variants knew more often their LDL-C target level (61.1% at visit 3 vs 26.3% at visit 2; p=0.004) and comparing with group II (17.6%) by visit 3 (p=0.006). There was no difference in the proportion of patients taking combined LLT (statin+ezetimibe+PCSK9i) at the first visit (5.3% at groups I and II, 12.0% at group III; p=0.556) and in the frequencies of its prescribing at the second visit (70.3% at group I, 52.6% at group II and 56.0% at group III; p=0.326). Only patients with FH variants began to take the combined LLT significantly more often by visit 3 (43.2% vs 5.3% at visit 1 (p <0.001)).Conclusions: Knowledge of positive genetic testing for FH contributes to a better knowing of the LDL-C target level and better adherence to the triple-combined LLT. Background and Aims : To assess the impact of awareness of genetic testing for familial hypercholesterolemia (FH) on the adherence to the lipid-lowering therapy (LLT). Methods: Patients ≥18 y.o. with “probable” or “definite” FH according to the DLCN criteria were included (n=82). The study consists of three visits (follow-up is 6 months) with a block randomization with a 2:1 allocation ratio (with: without genetic testing). The results of genetic testing were reported at the second visit. Patients were divided into 3 groups: I - with "positive" genetic testing (n=38); II - with "negative" genetic testing (n=19); III - without genetic testing (n=25). Fisher's test was used for statistical analysis. The study was registered on ClinicalTrials (NCT04656028). Results: Individuals with FH variants knew more often their LDL-C target level (61.1% at visit 3 vs 26.3% at visit 2; p=0.004) and comparing with group II (17.6%) by visit 3 (p=0.006). There was no difference in the proportion of patients taking combined LLT (statin+ezetimibe+PCSK9i) at the first visit (5.3% at groups I and II, 12.0% at group III; p=0.556) and in the frequencies of its prescribing at the second visit (70.3% at group I, 52.6% at group II and 56.0% at group III; p=0.326). Only patients with FH variants began to take the combined LLT significantly more often by visit 3 (43.2% vs 5.3% at visit 1 (p <0.001)). Conclusions: Knowledge of positive genetic testing for FH contributes to a better knowing of the LDL-C target level and better adherence to the triple-combined LLT.

Public Interest in Population Genetic Screening for Cancer Risk.

An emerging role for DNA sequencing is to identify people at risk for an inherited cancer syndrome in order to prevent or ameliorate the manifestation of symptoms. Two cancer syndromes, Hereditary Breast and Ovarian Cancer and Lynch Syndrome meet the “Tier 1” evidence threshold established by the Centers for Disease Control and Prevention (CDC) for routine testing of patients with a personal or family history of cancer. Advancements in genomic medicine have accelerated public health pilot programs for these highly medically actionable conditions. In this brief report, we provide descriptive statistics from a survey of 746 US respondents from a Qualtrics panel about the public’s awareness of genetic testing, interest in learning about their cancer risk, and likelihood of participating in a population genetic screening (PGS) test. Approximately of half the respondents were aware of genetic testing for inherited cancer risk (n = 377/745, 50.6%) and would choose to learn about their cancer risk (n-309/635, 48.7%). Characteristics of those interested in learning about their cancer risk differed by educational attainment, age, income, insurance status, having a primary care doctor, being aware of genetic testing, and likelihood of sharing information with family (p < 0.05). A sizeable majority of the respondents who were interested in about learning their cancer risk also said that they were likely to participate in a PGS test that involved a clinical appointment and blood draw, but no out-of-pocket cost (n = 255/309, 82.5%). Reasons for not wanting to participate included not finding test results interesting or important, concerns about costs, and feeling afraid to know the results. Overall, our results suggest that engaging and educating the general population about the benefits of learning about an inherited cancer predisposition may be an important strategy to address recruitment barriers to PGS.

Adapting a Theoretically-Based intervention for underserved clinical populations at increased risk for hereditary Cancer: Lessons learned from the BRCA-Gist experience

BackgroundMinorities at increased risk for Hereditary Breast and Ovarian Cancer (HBOC) frequently have low awareness and use of genetic counseling and testing (GCT). Making sure that evidence-based interventions (EBIs) reach minorities is key to reduce disparities. BRCA-Gist is a theory-informed EBI that has been proven to be efficacious in mostly non-Hispanic White non-clinical populations. We conducted formative work to inform adaptations of BRCA-Gist for use in clinical settings with at-risk diverse women. MethodsGenetic counselors (n = 20) were recruited nationally; at-risk Latinas and Blacks (n = 21) were recruited in Washington DC and Virginia. They completed the BRCA-Gist EBI between April 2018 – September 2019. Participants completed an acceptability scale and an interview to provide suggestions about implementation adaptations. T-tests for independent samples compared acceptability between at-risk women and genetic counselors. The Consensual Qualitative Research Framework was used to code adaptation suggestions. Suggested adaptations were discussed by a multidisciplinary team to integrate fidelity and adaptation considerations. ResultsAt-risk women had a significantly higher acceptability (M = 4.17, SD = 0.47 vs. M = 3.24, SD = 0.64; p = 0.000; scale 1–5) and satisfaction scores (M = 8.3, SD = 1.3 vs. M = 4.2, SD = 2.0; p = 0.000; scale 1–10) than genetic counselors. Genetic counselors and at-risk women suggested contextual (e.g. format) and content (e.g. shortening) adaptations to enhance the fit of BRCA-Gist for diverse clinical populations. ConclusionsFindings illustrate the process of integrating fidelity and adaptation considerations to ensure that EBIs retain their core components while enhancing the fit to minoritized clinical populations. Future studies will test the efficacy of the adapted BRCA-Gist in a Randomized Controlled Trial.

PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER

You have accessJournal of UrologyCME1 May 2022PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER Sameer Thakker, Stacy Loeb, Veda Giri, and Richard Matulewicz Sameer ThakkerSameer Thakker More articles by this author , Stacy LoebStacy Loeb More articles by this author , Veda GiriVeda Giri More articles by this author , and Richard MatulewiczRichard Matulewicz More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002545.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Germline genetic factors are playing an increasingly important role in the management of many cancers, including breast, ovarian and prostate cancer. Additionally, germline test results may influence screening protocols for other cancers and have important implications for family members. However, public awareness and uptake of genetic testing among these different cancers is unknown. METHODS: We examined data from the HINTS 5, Cycle 4, collected from February to June 2020 on genetic knowledge, awareness and uptake of genetic testing, as well as sources of information on genetic testing. These survey data are collected in a two-stage random sample to generate a nationally-representative estimate of adults living in the U.S. We specifically compared patients with prostate cancer (n=61, weighted sample=1,542,420) to those with breast/ovarian cancer (n=97, weighted sample=3,741,402), and a comparison group with no history of cancer (n=3168, weighted sample= 226,434,648). RESULTS: Men with prostate cancer were significantly less likely to be aware of genetic testing for cancer risk (p=0.01). Compared to patients with breast/ovarian cancer and with no cancer, fewer men with prostate cancer responded that knowing genes are at least a little important to prevent, detect and treat cancer. Only 1% of men with prostate cancer underwent genetic testing for hereditary cancer risk and 0.8% had multiple forms of genetic testing, which was significantly lower than uptake among patients with breast/ovarian cancer (p <0.001). Healthcare professionals were the most common sources of information about genetic testing for patients with breast/ovarian cancer; whereas, the internet and social media were the most common sources of information on genetic testing for patients with prostate cancer and those without a history of cancer. CONCLUSIONS: Our results corroborate a lack of awareness and substantial underutilization of genetic testing among men with prostate cancer. These findings are concerning given the importance of germline genetic information for prostate cancer care and hereditary cancer risk. The internet and social media represent promising avenues to disseminate information about genetic testing in prostate cancer. Source of Funding: Dr. Loeb and Dr. Giri are supported by the Prostate Cancer Foundation and Department of Defense © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e251 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Sameer Thakker More articles by this author Stacy Loeb More articles by this author Veda Giri More articles by this author Richard Matulewicz More articles by this author Expand All Advertisement PDF downloadLoading ...

Examining the role of language competency in genetic testing awareness among adults in the United States.

English language competency, as a component of health literacy, is associated with increased awareness and uptake of health-related genetic testing. The relationship between language competency and genetic testing awareness has not yet been explored in the wider U.S. population yet has significant implications for the practice of genetic counselors and in the promotion of genomic medicine for public health. We analyzed data from the 2017 Health Information National Trends Survey 5 Cycle 1 using weighted logistic regression to model the relationship between self-reported English competency, genetic testing awareness, and race and explore adjusted odds ratios and average marginal effects for levels of English competency. Compared to respondents with high English competency, the probability of genetic testing awareness was 20 percentage points lower for White participants reporting moderate English competency (p=.029) and 37 percentage points lower for non-White participants reporting low English competency (p<.001). Future research is needed to understand the mechanisms through which English competency affects awareness and uptake of genetic testing in the United States and to develop strategies to overcome language barriers for the practice of genetic counselors and the implementation of genetics services.

EP507: Patients’ reasons for genetic testing refusal in cancer evaluations: An analysis of the literature and opportunities to educate

eP507: Patients’ reasons for genetic testing refusal in cancer evaluations: An analysis of the literature and opportunities to educate

An overview of genetic services delivery for hereditary breast cancer.

Breast cancer is the most common cancer diagnosed in women worldwide, with approximately 5–10% of cases attributed to high penetrance hereditary breast cancer (HBC) genes. The tremendous advances in precision oncology have broadened indications for germline genetic testing to guide both systemic and surgical treatment, with increasing demand for cancer genetic services. The HBC continuum of care includes (1) identification, access, and uptake of genetic counseling and testing; (2) the delivery of genetic counseling and testing services; and (3) initiation of guideline-adherent follow-up care and family communication of results. Challenges to delivering care on the HBC care continuum include factors such as access to services, cost, discrimination and bias, and lack of education and awareness, which can be mitigated through implementing a multi-level approach. This includes strategies such as increasing awareness and utilization of genetic counseling and testing, developing new methods to meet the growing demand for genetic services, and improving the uptake of follow-up care by increasing patient and provider awareness of the management recommendations.

Access, utilization, and awareness for clinical genetic testing in autism spectrum disorder in Sweden: A survey study.

Clinical genetic testing is recommended for individuals diagnosed with autism spectrum disorder. There are only a few reports of how these recommendations are followed and especially missing for European countries. We aimed to analyze the rate of access, utilization, and awareness of clinical genetic testing among autistic individuals in Sweden through online surveys targeting parents with at least one autistic child and autistic adolescents (from 15 years) and adults. In total, 868 parents of autistic children and 213 autistic adolescents or adults completed the survey. Only 9.1% (n = 79) of parents and 2.8% (n = 6) of autistic adolescents/adults reported having received a referral for clinical genetic testing after autism spectrum disorder diagnosis. The autistic children offered a referral were younger at diagnosis (p < 0.001) and more likely to have an additional neurodevelopmental diagnosis (p < 0.01), including intellectual disability (p < 0.001) or a language disorder (p < 0.001). Genetic counseling was provided to less than half of the families that were referred for clinical genetic testing. Finally, we report that both respondent groups preferred to be informed by written text and an expert in genetics about clinical genetic testing. This study highlights a lack of awareness and access to clinical genetic testing after autism spectrum disorder diagnosis in Sweden and demonstrates the need for additional studies on how clinical guidelines for genetic testing are followed in different countries.Lay abstractSeveral medical professional societies recommend clinical genetic testing for autistic individuals as many genetic conditions are linked to autism. However, it is unclear to what extent autistic individuals and parents of autistic children are offered clinical genetic testing. We conducted a community-based survey to estimate the access, utilization, and awareness for clinical genetic testing in Sweden. In total, 868 parents of autistic children and 213 autistic adolescents or adults participated as respondents. The referral rate for clinical genetic testing after autism spectrum disorder diagnosis was low, with only 9.1% for the autistic children as reported by their parents and 2.8% for autistic adolescents/adults. The autistic children who got referrals were more likely to have intellectual disability and language disorder. We also report that awareness of the clinical genetic testing possibility was low in both respondent groups. We also highlight preferred communication means and needs for information before clinical genetic testing. Our results show that utilization and access are low in Sweden, and more studies should be conducted to report these rates in different countries to analyze the effects of clinical genetic testing on healthcare for autistic individuals. Our results highlight the most important information for the families and how the information should be communicated prior to clinical genetic testing.

Predictors of Population Awareness of Cancer Genetic Tests: Implications for Enhancing Equity in Engaging in Cancer Prevention and Precision Medicine.

A cross-sectional study was conducted from July 2019 to August 2019, with the survey e-mailed to 7,575 adult residents in southeastern Pennsylvania and New Jersey. Constructs from National Cancer Institute Health Information and National Trends Survey assessed cancer attitudes or beliefs, health literacy, and numeracy. Characteristics were summarized with mean ± standard deviation for numeric variables and frequency counts and percentages for categorical variables. Comparison of factors by race or ethnicity (non-Hispanic White and non-Hispanic Black) and sex was conducted by t-tests, chi-square, or Fisher's exact tests. Multivariate logistic regression models were conducted to identify factors independently predictive of GA. Of 1,557 respondents, data from 940 respondents (the mean age was 45 ± 16.2 years, 35.5% males, and 23% non-Hispanic Blacks) were analyzed. Factors associated with higher GA included female gender (P < .001), non-Hispanic White (P < .001), college education (P < .001), middle-higher income (P < .001), stronger belief in genetic basis of cancer (P < .001), lower cancer fatalism (P = .004), motivation for cancer information (P < .001), and higher numeracy (P = .002). On multivariate analysis, college education (odds ratio [OR] 1.79; 95% CI, 1.22 to 2.63), higher motivation for cancer information (OR 1.56; 95% CI, 1.17 to 2.09), stronger belief in genetics of cancer (OR 2.21; 95% CI, 1.48 to 3.30), and higher medical literacy (OR 2.21; 95% CI, 1.34 to 3.65) predicted greater GA. This population-based study conducted in the precision medicine era identified novel modifiable factors, importantly perceptions of cancer genetics and medical literacy, as predictive of GA, which informs strategies to promote equitable engagement in genetically based cancer care.

Awareness of genetic counseling and genetic testing for hereditary gynecologic cancers among Korean healthcare providers: A survey.

We conducted a survey to evaluate the awareness of genetic counseling and testing for hereditary gynecologic cancers among Korean healthcare providers. We performed an on-the-spot survey using 29 questions on respondents' basic information, awareness of pre/post-test genetic counseling, genetic information management, and related social issues. We surveyed healthcare providers who attended the 2019 Hereditary Gynecologic Cancer Symposium organized by the Korean Society of Gynecologic Oncology. Of the 108 attendees, 85 (78.7%) participated in the survey. Among them, 45% (37/83) and 40% (33/83) did not have a separate clinic and had a dedicated team for genetic counseling in their institutions, respectively. Most respondents (60/76, 79%) recommended genetic testing for all women diagnosed with epithelial ovarian cancer. Many respondents simultaneously (20/85, 24%) or sequentially (45/85, 53%) tested for both pathogenic somatic and germline variants, whereas a few respondents (2/85, 2%) checked for only pathogenic somatic variants using tissue samples. Only 20% (17/85) of the respondents recommended genetic testing for all women with endometrial cancer; meanwhile, 68% (58/86) offered the test based on the results of the screening test or family history. Risk-reducing salpingo-oophorectomy was recommended to unaffected women with pathogenic BRCA1/2 variants by 69.4% of the respondents (59/85). Most respondents (73/85, 85.9%) needed a manual on bioethics law; a few required a clinical update of hereditary cancer (73/85, 85.9%). The awareness of genetic counseling and testing and the pattern of clinical practice for hereditary gynecologic cancers differ among institutions and regions in Korea. A discussion on these issues and the development of an integrated manual for healthcare providers are required.

Barriers and facilitators to genetic testing amongst Black African women in the UK

Abstract Background Black African women have the lowest attendance of genetic testing services and the highest mortality rate of breast and ovarian cancer amongst women from ethnic minority groups in the UK. Therefore, this study aimed to identify the barriers and facilitators to genetic testing to enable these women to make informed choices if found eligible. Methods A qualitative approach was used to explore the perceptions surrounding genetic testing amongst Twenty-four women aged 23-57 Black African women in Luton. Purposive sampling combined with snowballing sampling was used as a recruitment technique. Results The findings revealed that most of the participants had no awareness or knowledge of genetic testing and limited knowledge of their family medical history for eligibility to attend genetic testing services. Facilitators including family member's health, funding by the National Health services and accessibility and awareness and education on genetic testing were identified. Conclusions This study sought to explore the perceptions of Black African women on barriers and facilitators to genetic testing to enable researchers to implement efficient intervention that would increase genetic testing attendance whilst addressing the other barriers and facilitators to alter Black African's women health seeking behaviours. Key messages Identify barriers and facilitators to genetic testing amongst Black African women in the UK. This study highlights the need for further research into health seeking behaviour among Black women that could contribute to the low uptake of genetic testing.

P59.32 Physician Attitudes Toward Genetic Testing and Targeted Therapy for Advanced NSCLC Patients in China: A Nationwide Survey

The purpose of this survey is to explore the situation of genetic testing and targeted therapy in advanced non-small cell lung cancer (NSCLC) patients in China. The survey was conducted in oncology, respiratory and thoracic surgery departments between May 2020 and September 2020 across 135 cities in China. The participating physicians had >5 years of clinical experience in NSCLC diagnosis and treatment. Among 450 participating physicians, 361(80.2%) and 89 (19.8%) were from the tertiary and non-tertiary hospitals, respectively. For newly diagnosed patients, epidermal growth factor receptor (EGFR) mutation, anaplastic lymphoma kinase (ALK) rearrangement, and ROS proto-oncogene 1 (ROS1) fusion testing were recommended by 83.4%, 72.9% and 68.3% of physicians, respectively. For patients who had not received any tyrosine kinase inhibitor (TKI) therapy, who had received one line, and who had received ≥2 lines of TKI therapy, the recommended percentage of genetic testing by physicians declined gradually, which were 81%, 56% and 45%, respectively. Similarly, with the increasing number of TKIs treatment lines, the genetic testing rate of patients decreased gradually, which were 77.9%, 59.5% and 46.7%. Patients refused genetic testing either because their incomprehension or it was costly. The accessibilities of genetic testing of EGFR, ALK and ROS1 in respective pathology departments were 81.9%, 75.5% and 65.6%, respectively. Among the newly diagnosed patients with EGFR mutation, 77% received TKI therapy during first-line treatment, of which 49% were treated with Gefitinib. Furthermore, among patients with ALK rearrangement, 71% received TKI therapy during first-line treatment, of which 64% were treated with Crizotinib. Among patients with ROS1 fusion, 65% received TKI therapy during first-line treatment, of which 88% patients were treated with Crizotinib. The recommended percentage of physicians, the percentage of patients’ genetic testing and the proportion of TKIs use were all higher numerically in tertiary hospitals. Although driver gene mutation is common in Asian NSCLC patients, some newly diagnosed Chinese patients failed to undergo timely testing and consequent targeted therapy, especially for ROS1 fusion. Compared to the tertiary hospitals, the physicians' awareness of genetic testing, accessibility of genetic testing of the hospital, and patients’ genetic testing rate were lower in non-tertiary hospitals. Patients with EGFR mutation or ALK rearrangement received more targeted therapy than those with ROS1 fusion. Thus, imparting education on ALK and ROS1 to physicians and patients is imperative to increase the recommended percentage of genetic testing and the proportion of targeted drug therapy.

Physician awareness, preparedness, and opinions toward consumer-initiated genetic testing in Thailand: Views from a changing landscape.

Consumer-initiated genetic tests have captured public interest in recent years, including in low-to-middle-income countries (LMICs) such as Thailand. Due to limited resources and personnel, physicians will most likely bear the burden of increasing service needs from the public as consumer-initiated genetic tests become popularized. The primary objective of this study was to describe (a) awareness, (b) preparedness to provide counseling about the consumer-initiated genetic test, and (c) opinions on the usefulness of consumer-initiated genetic tests among physicians at an academic hospital in Bangkok, Thailand. The secondary objective was to describe factors that were associated with the awareness, preparedness, and opinion of the participants. Paper questionnaires were sent out to participants which included internal medicine residents, fellows, and faculty staff members. The questionnaires assessed awareness, preparedness to discuss consumer-initiated genetic test results, and opinion on the usefulness of consumer-initiated genetic tests and included both closed- and open-ended questions. Responses were anonymous. Among 308 participants, there were 223 (72.4%) residents, 14 (4.5%) fellows, and 71 (23.1%) staff members. Only 15% of participants were aware of consumer-initiated genetic tests, mostly from the internet, and only 7% were prepared to provide counseling regarding consumer-initiated genetic tests. However, 60% agreed that consumer-initiated genetic tests may be clinically useful. Many participants, including trainees, expressed concerns about the interpretation of consumer-initiated genetic test results, application into clinical practice, appropriate counseling, and patient referral to geneticists. Multivariate logistic regression revealed that years of work experience was independently associated with awareness of consumer-initiated genetic tests, while male gender and less work experience were independently associated with favorable opinion toward the usefulness of consumer-initiated genetic tests. Our results pointed to an urgent need for genetic counselors in Thailand. Also, physicians, particularly trainees, need appropriate training to prepare them for a rapidly evolving environment where consumer-initiated genetic tests become commonplace.

Knowledge, awareness, and attitude of medical students concerning genetics and premarital screening

Objectives: The objectives of the study are to evaluate the medical students' knowledge, awareness, and attitude of genetics and genetic testing in general and premarital screening (PMS) in particular. Materials and Methods: An online predesigned, validated, and self-administered questionnaire was dispensed to all medical students of our university. This included questions regarding sociodemographic data, genetics, genetic testing, and PMS. Results: A total of 302 students responded to the survey with a mean age of 21.68 ± 2.32 (standard deviation) of which 38.7% were males and 61.3% were females. 51 (16.9%) students were from Phase I, 124 (41.1%) from Phase II, 127 (42.1%) from Phase III of College of Medicine KSAU-HS, Jeddah Campus. 224 (74.2%) of the participants had no direct relationship between the parents and 23 (7.6%) had personal history of hereditary disease. About 86.1% of students knew that genetic counseling is available in the Kingdom and 83.4% were familiar with PMS. Majority of students (female = 83.2%; male = 84.6%) did perceive that consanguinity can increase the chance of hereditary diseases. Overwhelming majority (female = 94.1%; male = 85.4%) agreed to make PMS obligatory before marriage, 87.4% of which were Phase III students. However, only a minority of students disagreed with marriage to be allowed even if the result of PMS came incompatible and most agreed to carrying out PMS which contrasts what others have reported. Conclusions: Majority of students had a positive attitude toward PMS, much higher than previously reported, thereby reflecting upon the importance of medical education as a lynchpin between the knowledge and practice.

Factors Influencing Discussion of Cancer Genetic Testing with Health-Care Providers in a Population-Based Survey

Introduction: Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors. Methods: A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population. Results: Overall, 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related to having a personal history of breast/ovarian/colon cancer (OR = 11.57, 95% CI = 5.34–25.03), personal history of other cancer (OR = 3.18, 95% CI = 1.69–5.97), and health information-seeking behaviors (OR = 1.73, 95% CI = 1.12–2.66). Surprisingly, respondents who believed that inherited predispositions in addition to other modifiable risk factors cause cancer were less likely to discuss genetic testing compared to those who did not believe that inherited cancer predispositions cause cancer (OR = 0.54, 95% CI = 0.36–0.79). Discussion: The high discussion rate may be attributed to increased public awareness of genetic testing and adoption of more inclusive clinical genetic testing guidelines. The findings suggest that efforts to increase public awareness of the utility of genetic testing on personalized cancer risk assessment and cancer prevention are needed.

Knowledge, Awareness, and Perception of Genetic Testing for Hereditary Disorders Among Malaysians in Klang Valley.

Genetic testing aids patients in making important decisions in the prevention, treatment, or early detection of hereditary disorders. Low awareness of the importance of genetic testing contributes to the increase in the incidence of hereditary disorders. This study aims to explore the knowledge, awareness, and perception of genetic testing for hereditary disorders among local residents of the Klang Valley, Malaysia, and the potential variables that influence their understanding of genetic testing. A survey was conducted in different municipalities of the Klang Valley through self-administered questionnaire assessing the public's knowledge, awareness, and perception of genetic testing. Overall, the results revealed adequate knowledge and positive awareness of genetic testing, in which both were influenced by the respondent's educational level (P < 0.001), field of study (P < 0.001), and status of heard or unheard of genetic testing (P < 0.001). The perception of genetic testing was generally positive and influenced by the respondent's differences in age (P < 0.016), educational level (P < 0.001), field of study (P < 0.001), and status of heard or unheard of genetic testing (P < 0.001). Although positive responses were obtained, ~20.2% of the respondents had never heard of genetic testing. Of the respondents, 24.5% were unwilling to undergo genetic testing, with 25.1% believing that genetic testing tampers with nature and 18% believing that it opposes religion and their beliefs. Such attitude calls for the need to conduct programs to eliminate any misconception, as well as to educate the public to lessen any perceived misunderstanding of the concepts of genetic testing.