Use Of Genetic Services Research Articles

Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO

BackgroundIn Japan, the public insurance policy was revised in 2020 to cover hereditary breast and ovarian cancer (HBOC), including genetic testing and surveillance, for patients with breast cancer (BC). Consequently,...

Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients

PurposeThere is limited research on the relationship between structural environmental factors and genomics-related knowledge, self-efficacy, perceived importance, and communication. We examined the potential impact of racial segregation on these genomics-related outcomes among medically underserved patients. MethodsWe analyzed data from a sample of 546 patients recruited from a primary care clinic in St. Louis, Missouri. Multivariable models were used to examine associations between racial composition of social environments across the life course and genomics-related knowledge, self-efficacy, perceived importance, and communication. ResultsNon-Hispanic White patients reporting multiple past White social environments had higher genetic knowledge than non-Hispanic White patients reporting one or no past White social environments (P = .021), Black patients reporting 1 or no past White social environments (P = .002), and Black patients reporting multiple past White social environments (P < .001). We also found that among those reporting multiple current White social environments, Black patients were more likely than non-Hispanic White patients to frequently communicate about family history with family (P = .003). ConclusionThese findings indicate that structural factors may affect understanding of genetic information and communication about family history among medically underserved patients. Targeted interventions may increase the use of genetic services among this population and reduce health inequities.

Awareness, attitudes towards genetic diseases and acceptability of genetic interventions among pregnant women in Burera district, Rwanda

Approximately 3% of all pregnancies are associated with conditions linked with disability, either mild or severe congenital diseases. This is a consequence of environmental and genetic exposures. Complications and poor management of these diseases arise due to limited knowledge, awareness about the disease, and limited resource settings. The current study assessed awareness, attitudes towards genetic diseases, and acceptability of genetic interventions among pregnant women. This was a cross-sectional study that was conducted among 664 pregnant women in six selected health centers in Burera district using a detailed questionnaire. The data were analysed using STATA Version 15 and entailed univariate, bivariate, and multivariable analyses. The level of significance was set at p < 0.05. The mean age of the study participants was 28, and most of them were in the age range of 21 to 30 (50%). Most of the participants were married (91.1%), Christians (98.4%), farmers (92.7%), used public health coverage (96.6%), and attained primary studies (66.1%). The findings from this study showed that among participants, adequate awareness was at 29.5%, inadequate awareness at 70.5%, positive attitudes at 87.1%, negative attitudes at 12.9%, high acceptability at 97.1%, and low acceptability at 2.9%. While there was no significant difference between awareness and acceptability, there was a statistical significance between attitudes towards genetic diseases and acceptability towards the use of genetic services (p < 0.01). There was no statistical significance between sociodemographic or obstetric characteristics and the acceptability of genetic interventions. Participants with positive attitudes towards genetic diseases were more likely to develop a high level of acceptability and willingness towards the use of genetic interventions (OR: 5.3 [2.1–13.5]). Improving awareness about genetic diseases and establishing genetic interventions in healthcare facilities are needed.

Dog guardians and genetic testing: Survey textbox responses &amp; human-animal bond influences

Abstract Research has yet to evaluate how direct-to-consumer genetic services for companion animals may influence the human–animal bond (HAB). US-based Wisdom Panel TM customers were invited to complete an online survey to evaluate dog guardians who had used a genetic test for their dogs. This paper presents a subset of that data in which participants provided qualitative responses and answered Likert scale questions related to genetic test use and the HAB. Our sample consisted of 253 participants who completed the HAB questions, with 126 completing one or both open-ended text box questions. Qualitative responses were deductively coded using a codebook from a previous content analysis on pet genetic company website and consumer review data. Responses to HAB Likert items indicated genetic test results allow guardians to learn more about their dog, a benefit promoted by pet genetic companies, but did not suggest the new genetic knowledge influenced their sentiments toward the tested dog. Central themes found in qualitative responses were participants using the test results to interpret their dog’s breed or other types of information (e.g. biological relatives in the Wisdom Panel database). Other themes were participants discussing their perceptions toward their dog’s test results (e.g. perceived accuracy of the results) and sharing information about their dog to give additional context to their experience of using a genetic test (e.g. dog acquisition history). Follow-up research should further explore the potential impacts companion animal genetic services may have on the HAB and utilize these findings as a framework. These lines of inquiry will especially be pertinent with the growing use of genetic services for companion animals and genetic researchers suggesting genomic technologies may be used to enhance HAB.

P388: Use of genetic services among patients with prostate cancer at a safety-net hospital: A mixed methods study

P388: Use of genetic services among patients with prostate cancer at a safety-net hospital: A mixed methods study

EP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies

eP479: Primary care providers’ use of genetic services in the Southeast United States: Barriers, facilitators, and strategies

Primary Care Providers' Use of Genetic Services in the Southeast United States: Barriers, Facilitators, and Strategies.

Collectively, genetic diseases are not that rare, and with increasing availability of genetics-informed healthcare management, primary care providers (PCPs) are more often asked to screen for or provide genetic services. Previous studies have identified barriers that impact PCPs' ability to provide genetic services, including limited knowledge, training, and time/resources. This study set out to identify specific barriers limiting genetics service provision by PCPs within the Southeastern Regional Genetics Network (SERN) and resources that would help eliminate those barriers. PCPs were recruited through provider networks and invited to participate in semi-structured interviews, conducted via Zoom, recorded, and transcribed verbatim. Interview transcripts were independently coded by 2 coders using MAXQDA software. Thematic analysis was conducted. Eleven interviews were conducted. Three predominant themes emerged from the data regarding factors impacting use of genetic services: system-wide factors, provider-specific factors, and patient factors. System-wide barriers included a lack of genetics providers and logistic challenges, which led to some PCPs coordinating referrals with other specialists or independently managing patients. Regarding provider-specific barriers, PCPs reported lack of genetics knowledge making referrals challenging. When possible, many PCPs contacted genetics providers for assistance. When not possible, some PCPs reached out to other colleagues or specialists for guidance. Patient-specific barriers included concerns or lack of information regarding genetics and unmet social needs. Many PCPs provided additional education regarding genetics appointments or testing benefits to their patients. Assistance from genetic counselors, electronic medical record systems that support referral to genetics, prior experience referring to genetics, established communication channels with genetics professionals, and highly motivated patients all facilitated improved collaboration with genetic services. PCPs provided suggestions for future resources to support interactions with genetics, including clear referral guidelines, increased access to genetics providers, improved test ordering processes, increased access to genetic education, and communication systems. PCPs face barriers at 3 different levels when engaging with genetic services: systems, providers, and patients. This study identified strategies that PCPs use to address these barriers, which are dependent on individual resources and practice settings. These strategies demonstrate resourcefulness in working to incorporate genetics into clinics operating at maximum capacity. By targeting barriers that uniquely impact providers, systems, and patients, as well as building upon strategies that PCPs are already using, medical providers can support PCPs to help with the provision of genetic services.

Genetic Referral Patterns and Responses to Clinical Scenarios: A Survey of Primary Care Providers and Clinical Geneticists.

Introduction:Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics.Methods:A 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs’ rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents’ personal and practice characteristics.Results:A total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without (P = .008). White PCPs referred at significantly higher rates compared to Black or African American PCPs (P = .009). The most commonly reported motivators for referring patients to genetic services were preference for specialist coordination, lack of knowledge, and family’s desire for risk information. The most commonly reported barriers were patient refusal, provider concerns about costs to patients, and uncertainty of when a genetic referral is appropriate. In response to clinical scenarios, clinical geneticists were in agreement about the need for genetic testing or referral for 2 of the scenarios. For these 2 scenarios, only 48% and 71% of PCPs indicated that they would offer genetic testing or referral, respectively.Conclusions:Responses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs’ utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.

Disparities in genetic services utilization in a random sample of young breast cancer survivors

Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS. Among 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge. Racial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.

Exploring Predictors of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer: Findings from the 2015 U.S. National Health Interview Survey.

Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public’s use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public’s use of HBOC-related clinical cancer genetic services. Bivariate analyses were used to compute percentages and examine the associations of familial cancer risk for three genetic services outcomes (ever had genetic counseling for cancer risk, ever discussed genetic testing for cancer risk with a provider, and ever had genetic testing for cancer risk). Multivariable logistic regression models were used to estimate the association of familial cancer risk and other demographic and health variables with genetic services. Most women (87.67%) in this study were at low risk based on self-reported family history of breast and ovarian cancer, 10.65% were at medium risk, and 1.68% were at high risk. Overall, very small numbers of individuals had ever had genetic counseling (2.78%), discussed genetic testing with their physician (4.55%) or had genetic testing (1.64%). Across all genetic services outcomes, individuals who were at higher familial risk were more likely to have had genetic counseling than those at lower risk (high risk: aOR = 5.869, 95% CI = 2.911–11.835; medium risk: aOR = 4.121, 95% CI = 2.934–5.789), discussed genetic testing (high risk: aOR = 5.133, 95% CI = 2.699–9.764; medium risk: aOR = 3.649, 95% CI = 2.696–4.938), and completed genetic testing (high risk: aOR = 8.531, 95% CI = 3.666–19.851; medium risk aOR = 3.057, 95% CI = 1.835–5.094). Those who perceived themselves as being more likely to develop cancer than the average woman were more likely to engage in genetic counseling (aOR = 1.916, 95% CI = 1.334–2.752), discuss genetic testing (aOR = 3.314, 95% CI = 2.463–4.459) or have had genetic testing (aOR = 1.947, 95% CI = 1.13–3.54). Personal cancer history was also a significant predictor of likelihood to have engaged in genetic services. Our findings highlight: (1) potential under-utilization of cancer genetic services among high risk populations in the U.S. and (2) differences in genetic services use based on individual’s characteristics such as self-reported familial risk, personal history, and beliefs about risk of cancer. These results align with other studies which have noted that awareness and use of genetic services are low in the general population and likely not reaching individuals who could benefit most from screening for inherited cancers. Efforts to promote public awareness of familial cancer risk may lead to better uptake of cancer genetic services.

Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study.

BackgroundCarriers of breast cancer gene (BRCA) mutations are asked to communicate genetic test results to their biological relatives to increase awareness of cancer risk and promote use of genetic services. This process is highly variable from family to family. Interventions that support communication of genetic test results, coping, and offer decision support in families harboring a pathogenic variant may contribute to effective management of hereditary cancer.ObjectiveThe aim of this paper was to describe the development of the Family Gene Toolkit, a Web-based intervention targeting BRCA carriers and untested blood relatives, designed to enhance coping, family communication, and decision making.MethodsWe present findings from focus groups regarding intervention acceptability and participant satisfaction and from a pre-post pilot study with random allocation to a wait-listed control group regarding intervention feasibility and usability.ResultsThe Family Gene Toolkit was developed by a multidisciplinary team as a psycho-educational and skills-building intervention. It includes two live webinar sessions and a follow-up phone call guided by a certified genetic counselor and a master’s prepared oncology nurse. Each live webinar includes two modules (total four modules) presenting information about BRCA mutations, a decision aid for genetic testing, and two skill-building modules for effective coping and family communication. Participants in focus groups (n=11) were highly satisfied with the intervention, reporting it to be useful and describing clearly the important issues. From the 12 dyads recruited in the pre-post pilot study (response rate 12/52, 23%), completion rate was 71% (10/14) for intervention and 40% (4/10) for wait-listed control groups.ConclusionsAcceptability and satisfaction with the Family Gene Toolkit is high. On the basis of the findings from usability and feasibility testing, modifications on timing, delivery mode, and recruitment methods have been implemented.Trial RegistrationClinicalTrials.gov NCT02154633; https://clinicaltrials.gov/ct2/show/NCT02154633 (Archived by WebCite at http://www.webcitation.org/6yYNvLPjv)

Differences in Uptake of Risk Reduction Strategies Among Underserved Populations

Differences in Uptake of Risk Reduction Strategies Among Underserved Populations

Development of the Informing Relatives Inventory (IRI): Assessing Index Patients' Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives.

Despite the use of genetic services, counselees do not always share hereditary cancer information with at-risk relatives. Reasons for not informing relatives may be categorized as a lack of: knowledge, motivation, and/or self-efficacy. This study aims to develop and test the psychometric properties of the Informing Relatives Inventory, a battery of instruments that intend to measure counselees' knowledge, motivation, and self-efficacy regarding the disclosure of hereditary cancer risk information to at-risk relatives. Guided by the proposed conceptual framework, existing instruments were selected and new instruments were developed. We tested the instruments' acceptability, dimensionality, reliability, and criterion-related validity in consecutive index patients visiting the Clinical Genetics department with questions regarding hereditary breast and/or ovarian cancer or colon cancer. Data of 211 index patients were included (response rate = 62%). The Informing Relatives Inventory (IRI) assesses three barriers in disclosure representing seven domains. Instruments assessing index patients' (positive) motivation and self-efficacy were acceptable and reliable and suggested good criterion-related validity. Psychometric properties of instruments assessing index patients knowledge were disputable. These items were moderately accepted by index patients and the criterion-related validity was weaker. This study presents a first conceptual framework and associated inventory (IRI) that improves insight into index patients' barriers regarding the disclosure of genetic cancer information to at-risk relatives. Instruments assessing (positive) motivation and self-efficacy proved to be reliable measurements. Measuring index patients knowledge appeared to be more challenging. Further research is necessary to ensure IRI's dimensionality and sensitivity to change.

Genetic Counseling Services and Training of Genetic Counselors in Israel: An Overview

Genetic counseling services have existed in Israel since 1964 and are available in almost all the major hospitals. Given the socialized healthcare system and small country size, genetic services are generally accessible and often free. The existence of founder mutations in various communities in Israel makes genetic testing easier to perform. Yet, the ethnic, cultural and religious diversity of the population has major implications on the design of the screening programs and the use of genetic services. The Israeli Association of Genetic Counselors (IAGC) was established in 2008 and had existed informally since 1989. There are two Master level genetic counseling training programs (6 students/class, 2year program): Hebrew University-Hadassah Medical School (established in 1997) and the Technion (established in 2009). Genetic counselors' clinical training is largely observational and 2years of supervised counseling sessions post degree are required for board exam eligibility. Genetic counselors are licensed and lead counseling sessions individually, but currently must work under medical geneticist supervision. This is the first article to summarize the history and training of Master level genetic counselors in Israel. Genetic services, coverage and regulations are also described.

The Front Line of Genomic Translation

The Front Line of Genomic Translation

Providers' perceptions and practices regarding BRCA1/2 genetic counseling and testing in African American women.

We examined healthcare providers' perceptions of genetic counseling and testing in African American women at moderate to high-risk of carrying a BRCA1/2 mutation. We conducted 20 in-depth interviews with genetic counselors (n = 5), medical oncologists (n = 8), obstetrician/gynecologists (n = 2) and surgeons (n = 5). Interviews were audiotaped, transcribed and independently coded by two individuals using a content analysis approach. Seven themes emerged relevant to providers' perceptions of African American women's use of BRCA1/2 genetic services: access factors, cultural beliefs and preferences, effects of testing, patient motivators for genetic counseling and testing, patient-provider communication, reasons for provider referral, and reasons for patient refusal. Providers identified individual- and system-level barriers to African American women's use of genetic services, including lack of follow-up after referrals to genetic specialists and challenges to obtaining financial coverage for under- and uninsured high-risk women. Results have implications for physician and patient education regarding appropriate referrals to and uptake of genetic services in at-risk African American women.

Ethnic, Racial and Cultural Identity and Perceived Benefits and Barriers Related to Genetic Testing for Breast Cancer among At-Risk Women of African Descent in New York City

Background: Due to disparities in the use of genetic services, there has been growing interest in examining beliefs and attitudes related to genetic testing for breast and/or ovarian cancer risk among women of African descent. However, to date, few studies have addressed critical cultural variations among this minority group and their influence on such beliefs and attitudes. Methods: We assessed ethnic, racial and cultural identity and examined their relationships with perceived benefits and barriers related to genetic testing for cancer risk in a sample of 160 women of African descent (49% self-identified African American, 39% Black-West Indian/Caribbean, 12% Black-Other) who met genetic risk criteria and were participating in a larger longitudinal study including the opportunity for free genetic counseling and testing in New York City. All participants completed the following previously validated measures: (a) the multi-group ethnic identity measure (including ethnic search and affirmation subscales) and other-group orientation for ethnic identity, (b) centrality to assess racial identity, and (c) Africentrism to measure cultural identity. Perceived benefits and barriers related to genetic testing included: (1) pros/advantages (including family-related pros), (2) cons/disadvantages (including family-related cons, stigma and confidentiality concerns), and (3) concerns about abuses of genetic testing. Results: In multivariate analyses, several ethnic identity elements showed significant, largely positive relationships to perceived benefits about genetic testing for breast and/or ovarian cancer risk, the exception being ethnic search, which was positively associated with cons/disadvantages, in general, and family-related cons/disadvantages. Racial identity (centrality) showed a significant association with confidentiality concerns. Cultural identity (Africentrism) was not related to perceived benefits and/or barriers. Conclusions: Ethnic and racial identity may influence perceived benefits and barriers related to genetic testing for breast and/or ovarian cancer risk among at-risk women of African descent. Genetic counseling services may want to take into account these factors in the creation of culturally-appropriate services which best meet the needs of this heterogenous population.

Moral landscapes and everyday life in families with Huntington’s disease: Aligning ethnographic description and bioethics

This article is concerned with understanding moral aspects of everyday life in families with Huntington’s Disease (HD). It draws on findings from an empirical research project in Denmark in 1998–2002 involving multi-sited ethnography to argue that medical genetics provides a particular framework for conducting life in an HD family. A framework that implies that being informed and making use of genetic services expresses greater moral responsibility than conducting life without drawing on these resources. The moral imperative of engagement in medical genetics is challenged here by two pieces of ethnographic analysis. The first concerns a person who, as described by a family member, does not engage with medical genetics but who brings to the fore other culturally legitimate concerns, priorities and areas of responsibility. The second figures a genetic counselling session where neither the knowledge nor the imagined solutions of medical genetics are as unproblematic and straightforward as might be thought. To assist our understanding of the moral aspects of living with severe familial disease, the ethnographic analysis is aligned with bioethical reflections that place the concrete concerns of those personally involved centre stage in the development of theoretical stances that aim to assist reflections in practice.

The influence of acculturation and breast cancer‐specific distress on perceived barriers to genetic testing for breast cancer among women of African descent

Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent. Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing. In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=<0.0001), confidentiality concerns (beta=0.02; SE=0.01; p=0.02), and family-related guilt (beta=0.02; SE=0.01; p=0.0009) associated with genetic testing. Results suggest an influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.

Too Many Referrals of Low-Risk Women for BRCA1/2 Genetic Services by Family Physicians

The increasing availability and public awareness of BRCA1/2 genetic testing will increase women's self-referrals to genetic services. The objective of this study was to examine whether patient characteristics influence the referral decisions of family physicians when a patient requests BRCA1/2 genetic testing. Family physicians (n = 284) completed a Web-based survey in 2006 to assess their attitudes and practices related to the use of genetics in their clinical practice. Using a 2 x 2 x 2 factorial design, we tested the effects of a hypothetical patient's race, level of worry, and insurance status on the decisions of family physicians to refer her for BRCA1/2 testing. The patient was not appropriate for referral based on U.S. Preventive Services Task Force guidelines. No patient characteristics were associated with the family physicians' referral decisions. Although referral was not indicated, only 8% did not refer to genetic services; 92% referred for genetic services, and 50% referred to genetic counseling. Family physicians regarded it unlikely that the patient carried a mutation, but 65% of family physicians believed that if they refused to refer for genetic services it would harm their relationship with the patient. Despite scarce and costly genetic services, family physicians were likely to inappropriately refer a low-risk patient who requested BRCA1/2 testing. The implications of this inappropriate referral on women's screening behavior, genetic services, and health care costs are unknown. Clinicians and patients could benefit from education about the appropriate use of genetic services so that both are more comfortable with a decision against referral.