Participation In Genetic Testing Research Articles

Abstract A115: Utilizing digital storytelling to improve the recruitment of Black and Hispanic patients for a genetic predisposition to prostate cancer screening trial

Abstract Introduction: Clinical genomics leads to more effective cancer prevention, diagnosis, and treatment. Prostate cancer (PC) significantly impacts Black and Hispanic men, but participation in clinical trials and PC risk management methods like genetic testing and screening remains low. Barriers to diversity and inclusion in clinical trials include cultural and socioeconomic factors. Digital storytelling is an effective tool for building trust and increasing community engagement. We aim to develop and assess the use of digital storytelling to improve recruitment of Black and Hispanic patients in a trial for men at high genetic risk for developing PC (clinicaltrials.gov NCT03805919) and raise awareness of genetic testing and enrollment in clinical trials within these communities. Methods: Guided by the Assessing Community Engagement Conceptual Model, we will establish a community advisory panel (CAP) comprised of patient advocates, community, and clinical partners with a strong interest in increasing clinical trial representation of Black and Hispanic patients at high genetic risk for developing PC. CAP participants will be identified from existing partners and through snowballing techniques, which involve asking partners to recommend other CAP participants. The CAP will co-design storytelling interview questions, baseline, and outcome assessments and collectively determine effective methods for digital story dissemination. To evaluate the impact of storytelling on awareness, interest, and participation in genetic testing, medical management, and clinical trial recruitment among Black and Hispanic men, outcome assessments co-designed with the CAP will be administered pre and post-video viewing and include viewer qualitative interviews. Results: Filmed interviews with Black and Hispanic participants will be conducted. Interviews will focus on participant experiences with clinical trials, genetic testing, and cancer risk management. Interview transcripts will be in English and Spanish with forward and back translation to ensure accuracy using National Institutes of Health resources. Local and national partners, community organizations, faith-based institutions, healthcare facilities, and advocacy groups identified by the CAP will facilitate dissemination. Digital stories will be distributed across various multimedia platforms to maximize outreach and accessibility, including community web platforms, social media channels, podcasts, local radio stations, educational workshops, health fairs, cultural events, churches, and support groups. Conclusion: Building strategies for improving patient-centered care delivery and community engagement within culturally diverse populations will enhance clinical trial diversity and inclusion. Using digital storytelling as a recruitment strategy for clinical trials can foster trust, engagement, and participation within Black and Hispanic communities. Study findings will contribute to future clinical trial design and recruitment to enhance underrepresented minority participation in clinical research. Citation Format: Yi Liu, Brenda Adjei, Anna Couvillon, Kathleen Calzone, Fatima Karzai. Utilizing digital storytelling to improve the recruitment of Black and Hispanic patients for a genetic predisposition to prostate cancer screening trial [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A115.

Fatalism and metaphor in Confucianism: A qualitative study of barriers to genetic testing among first-degree relatives of hereditary cancer patients from China.

Despite the benefits, the rate of genetic testing among first-degree relatives (FDRs; parents, children, and siblings) remains low, and the barriers to undergoing testing among FDRs in China are not clear. We explored the reasons why FDRs refused genetic testing. Semi-structured face-to-face interviews were conducted with 22 patients and 27 FDRs. Participants were recruited at an urban tertiary hospital in Guangzhou, South China. We used qualitative content analysis to analyse the transcripts of audio recordings and identify major themes and subthemes. Three major themes emerged related to FDRs' low rate of participation in genetic testing. First, there is cognitive distance from genetic testing/cancer and a lack of knowledge of preventive medicine that deepens the 'fatalistic' attitude towards cancer among FDRs, which leads to an enormous gap between their knowledge and understanding of genetic testing. Second, medical consultation is not valued in Confucianism, and the view of cancer as 'bad news' and the risk of cancer as a curse makes cancer a metaphor, which leads to exhausting arguments when persuading FDRs to undergo genetic testing. Third, physical distance from the hospital, loss of privacy, possible discrimination in many social activities and genetic testing as a source of stress and anxiety lead FDRs to fear the disruption of their daily lives. There are many barriers to genetic testing among the FDRs of hereditary cancer patients originating from the national social and cultural context. Healthcare professionals should develop interventions rooted in culture and promote cancer risk communication between hereditary cancer patients and FDRs.

The 2021 FASEB virtual Catalyst Conference on Transplantation Genomics: Ethics of Research and Clinical Applications, January 27, 2021.

The 2021 FASEB virtual Catalyst Conference on Transplantation Genomics: Ethics of Research and Clinical Applications, January 27, 2021.

Eliciting Willingness and Beliefs towards Participation in Genetic Psychiatric Testing in Black/African American Mothers at Risk for Depression.

Black/African American women are at high risk for depression, yet are underrepresented in psychiatric genetic research for depression prevention and treatment. Little is known about the factors that influence participation in genetic testing for Black/African American women at risk. The purpose of this study was to elicit the beliefs that underlie participation in genetic testing for depression in Black/African American mothers, a subgroup at high risk. Willingness to participate in genetic testing procedures was also determined. A qualitative, descriptive design was employed. Exactly 19 mothers aged 21–42 completed open-ended questionnaires. Directed content and descriptive analyses of the text were conducted based on the Theory of Planned Behavior. Salient beliefs included: behavioral advantages—diagnosing/detecting depression (31.6%), finding cure/treatment (21.1%); disadvantages—not finding follow-up treatment/help (21.1%); salient referents, who approves—family members (47.4%), agencies/organizations (26.3%); who disapproves—church associates (21.1%). Control beliefs included: barriers—unpleasant/difficult testing procedures (42.1%), limited knowledge about the purpose of testing (26.3%); facilitator—a convenient location (21.1%). Most mothers (89.5%) indicated willingness to participate in testing. Interventions can target families, address barriers, emphasize future benefits, and use convenient locations and community-based participatory research methods. Policies can address social determinants of participation to increase inclusion of these mothers in psychiatric genetic research.

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening.

Preconception expanded carrier screening (ECS) aims to detect carrier couples of autosomal recessive (AR) disorders before pregnancy in order to increase reproductive autonomy of prospective parents. Genetic knowledge and knowledge gained from experience influence decision making on participation in genetic testing and understanding carrier test results. In this study we assessed whether parents and relatives of patients with the severe AR condition mucopolysaccharidosis type III (MPS III), who are expected to have genetic and experiential knowledge, have more positive attitudes toward ECS than the Dutch reference group. Parents of all MPS III patients known to the Dutch expert center were invited to participate and asked to invite first and second degree relatives. The online questionnaire started with an educational text, and assessed attitudes toward ECS, genetic knowledge and perceived MPS III severity. Results were compared with the Dutch population. Parents and relatives of MPS III patients (n = 159) scored higher on the genetic knowledge test and perceived MPS III as more severe compared with the general Dutch population (n = 781). Parents and relatives reported to be more likely to participate in ECS (84.3% and 62.5%, respectively) compared with the public (31%) (p < 0.001). Being a relative of a MPS III patient was the strongest variable in the regression analyses for intended ECS participation. Our results show that genetic knowledge influences ECS decision making. Therefore, appropriate information on ECS and genetic counseling is needed to enable prospective parents from the general population, including relatives of patients with severe hereditary disorders, to make informed decisions.

Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders

The purpose of this study was to determine the factors associated with genetic testing in children with autism spectrum disorders (ASDs) and understand parental involvement in the decision to test using survey data of parents of children with ASD. Evaluation by a geneticist was associated with genetic testing by more than 39 times compared to evaluation by a nongeneticist (95% CI = 9.15-168.81). Those offered testing by the physicians were more than 6 times more likely to be tested than those not offered testing (95% CI = 1.66-24.61). Financial concerns, not being offered testing, and lack of awareness were the most consistent reasons for not testing given by participants. A physician's recommendation for testing and an evaluation by a geneticist were the most important factors associated with genetic testing in children with ASD. Educating primary care physicians and nongenetic specialists can potentially improve genetic testing among children with ASD.

Participation of Korean families at high risk for hereditary breast and ovarian cancer in BRCA1/2 genetic testing.

The aim of our study was to determine the rate of participation in genetic testing, to determine the reasons for non-participation and to identify the factors affecting participation in BRCA genetic testing for high-risk patients. This study was performed through a retrospective review of 804 individuals who underwent genetic counseling for BRCA1/2 gene mutations at Seoul National University Bundang Hospital between July 2003 and September 2012. In total, 728 (90.5%) individuals underwent BRCA1/2 mutation screening after the initial genetic counseling; 88.2% of 647 probands and 100% of 157 family members were screened. In multivariate analysis, family history of breast cancer and younger age were independent variables affecting participation in genetic testing. Of the 132 people who initially declined genetic testing, 58 (43.9%) postponed the decision, 30 (22.7%) needed time to discuss the issue with family members, 22 (16.7%) did not want to know if they had a BRCA1/2 mutation, and 22 (16.7%) declined the test because of financial problems. When analyzing refusal of testing according to the time period before and after the implementation of national health insurance coverage for BRCA1/2 genetic testing, the critical reason given for refusal was different. After insurance coverage, refusal for financial reason was decreased from 61.1 to 9.6%. A family history of breast cancer and a younger age were important factors associated with participation in genetic testing. National health insurance decreased the proportion of individuals who did not participate in testing owing to a financial reason. In genetic counseling, we have to understand these issues and consider several factors that may influence an individual's decision to be tested.

The Role of Distress in Uptake and Response to Predisposition Genetic Testing: TheBMPR2Experience

This study examines psychological determinants and effects of participating in genetic testing among persons diagnosed with or at risk for developing primary pulmonary arterial hypertension. Longitudinal data were drawn from orally administered surveys with 70 affected or at-risk individuals concerning their thoughts, feelings, and decision making about testing for mutations in BMPR2. Distress was measured by use of the Impact of Events Scale. Variations in tolerance for ambiguity were also examined. Although uptake of testing was low, as is common for incompletely penetrant mutations that lack clear therapeutic interventions, we found that those who participated in testing evidenced greater reduction in distress compared to those who had not participated in testing, irrespective of test result. No differences in tolerance for ambiguity by testing status were found. Participation in genetic testing, irrespective of test results, may be particularly beneficial to individuals who may have genetic mutations and who are experiencing high levels of distress.

Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families

PurposeThe aim of this prospective cohort study was to examine uptake and psychological, behavioral, and cognitive outcomes of genetic testing for melanoma risk among individuals with a known family-specific CDKN2A mutation. MethodsA total of 119 individuals were ascertained via a genetic epidemiological study and completed a series of mailed, self-administered questionnaires at multiple time points, including notification of genetic test availability, and 2 weeks and 12 months after receipt of genetic test results (for “test participants”), or 12 months after notification (for “decliners”). ResultsSince January 2005, 21% of participants (n = 25) have undergone genetic testing, with 75% of those who have received results identified as mutation carriers (n = 15). Factors associated with uptake of genetic counseling included perceived susceptibility to melanoma (odds ratio = 3.60, P = 0.0008), and fatalistic beliefs about melanoma (odds ratio = 0.57, P = 0.005). Compared with baseline, carriers reported significantly reduced anxiety scores at 2 weeks, and reduced depression scores at 2 weeks and 12 months, after receipt of genetic test results. Carriers also reported a significantly greater frequency of clinical skin examination at 12-month follow-up compared with decliners (χ2 = 5.70, P = 0.02). No hypothesis testing was carried out for noncarriers because of their limited number. ConclusionThese data provide preliminary evidence for healthy psychological, behavioral, and cognitive adjustment after participation in genetic testing for melanoma risk.

Family communication, genetic testing and colonoscopy screening in hereditary non‐polyposis colon cancer: a qualitative study

Genetic testing and colonoscopy is recommended for people with a strong history of colorectal cancer (CRC). However, families must communicate so that all members are aware of the risk. The study aimed to explore the factors influencing family communication about genetic risk and colonoscopy among people with a strong family history of CRC who attended a genetic clinic with a view to having a genetic test for hereditary non-polyposis colon cancer (HNPCC). Interviews were held with 30 people with a high familial risk of colon cancer. The transcripts were transcribed verbatim and analysed using Interpretative Phenomenological Analysis. The family context, family history and perceptions about family duties and responsibilities were important motivators for communication about risk, genetic testing and colonoscopy and influenced participation in genetic testing and screening programmes. Participants reported usually communicating openly with their relatives about genetic risk and colonoscopy. Individuals felt a duty towards affected relatives and to their own children. The influence of the spouse and other relatives, particularly those affected by CRC, was also important. Colonoscopy was perceived to be embarrassing, unpleasant and sometimes painful. While there was sometimes anxiety about the result of the colonoscopy the results were usually reassuring. The family context and the experience of the family history can have an impact on communication, genetic testing and screening in HNPCC and this should be explored during counselling. Some individuals might benefit from support in communicating with relatives about genetic risk. Ways of improving the individual's experience of colonoscopy should also be examined.

Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey

Objective To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington’s disease who had undergone genetic testing or remained untested.Design Cross sectional, self reported...

What influences participation in genetic carrier testing?: Results from a discrete choice experiment

This study explores factors that influence participation in genetic testing programs and the acceptance of multiple tests. Tay Sachs and cystic fibrosis are both genetically determined recessive disorders with differing severity, treatment availability, and prevalence in different population groups. We used a discrete choice experiment with a general community and an Ashkenazi Jewish sample; data were analysed using multinomial logit with random coefficients. Although Jewish respondents were more likely to be tested, both groups seem to be making very similar tradeoffs across attributes when they make genetic testing choices.

Physician and patient-related barriers to participation in genetic testing for breast cancer susceptibility

Physician and patient-related barriers to participation in genetic testing for breast cancer susceptibility

Physician and patient-related barriers to participation in genetic testing for breast cancer susceptibility

9582 Background: Genetic testing is increasingly available for a number of diseases, but still has limited acceptance among physicians and patients. Clinical testing for BRCA1/2 mutations for breast and ovarian cancer susceptibility is widely available and allows targeted, effective interventions. In this study, we examined physician referral from a breast cancer (BC) clinic physically contiguous with a breast cancer risk evaluation program (CREP) as well as post-referral patient attendance patterns in order to better understand barriers to participation in genetic counseling. There is no charge for the clinical service. Methods: Chart review was completed on 166 individuals seen in BC clinic between 2000 - 2002 who: had BC under 40 (<40), were Ashkenazi Jewish and had BC under 50 (AJBr<50), had BC with ≥ 2 first-degree relatives with BC (2FDR), or had BC with a family history (FH) of ovarian cancer (BrOv), for documentation of referral to CREP. CREP schedules were reviewed to examine attendance following referral. Results: FH was documented by oncologists in 97%. 59 of 166 (36%) BC patients who met the above criteria had documented referral to CREP. Of these, 14 (24%) attended CREP. As BC stage increased, referral decreased (p=.01). BC <40 had fewer referrals than AJBr<50, BrOv, or 2FDR (p=.037). Differences in referrals between individual oncologists were highly significant (p<.001). Patient age, insurance status, and race were not significant predictors of referral. When examining those patient referred to CREP, AJBr< 50 had the highest rate of subsequent attendance (55%), followed by BC <40 (38%), BrOv (12%) and 2FDR (0%). Mean age of BC diagnosis for those attending CREP was 40.7 years compared with 48.2 among those who did not (p=.04). Current age, race, and insurance were not significant predictors of attendance. Nine of 107 (8%) individuals not referred by clinic physicians were seen in CREP by self-referral. Conclusions: Lack of referral from physicians, even those in the same clinic space as a CREP, is a significant limiting factor in participation in genetic counseling, but patients' decisions not to attend after referral also are significant. No significant financial relationships to disclose.

Personal Characteristics of Older Primary Care Patients Who Provide a Buccal Swab for Apolipoprotein E Testing and Banking of Genetic Material: The Spectrum Study

Objective: To determine the personal characteristics and reasons associated with providing a buccal swab for apolipoprotein E (APOE) genetic testing in a primary care study. Methods: The study sample consisted of 342 adults aged 65 years and older recruited from primary care settings. Results: In all, 88% of patients agreed to provide a DNA sample for APOE genotyping and 78% of persons providing a sample agreed to banking of the DNA. Persons aged 80 years and older and African-Americans were less likely to participate in APOE genotyping. Concern about confidentiality was the most common reason for not wanting to provide a DNA sample or to have DNA banked. Conclusion: We found stronger relationships between sociodemographic variables of age and ethnicity with participation in genetic testing than we did between level of educational attainment, gender, function, cognition, and affect.

Perceived disadvantages and concerns about abuses of genetic testing for cancer risk: differences across African American, Latina and Caucasian women

Participation in genetic testing for cancer risk is low among women of medically underserved ethnic groups and this is due, in part, to genetic testing attitudes, specifically perceived disadvantages of genetic testing and concerns about possible abuses of genetic testing. The goals of the current study were to: (a) explore genetic testing attitudes, and (b) determine the extent to which ethnicity, awareness of genetic testing, and medical mistrust are associated with genetic testing attitudes. African American, Latina, and Caucasian women ( N=273) completed an interview assessing sociodemographic information, genetic testing awareness, medical mistrust, and genetic testing attitudes. Latina participants more strongly agreed with disadvantages of testing than the other ethnic groups. Both Latina and African American women more strongly concurred with concerns about testing abuses compared to Caucasian women. In hierarchical linear regression analyses, Spanish language preference and medical mistrust were the only significant predictors of perceived disadvantages and medical mistrust was the only significant predictor of abuse concerns. These findings support the importance of identifying genetic testing attitudes that may be culturally specific in order to promote culturally competent care by genetic risk professionals.