Abstract IA27: Remote genetic services to increase access to genetic testing in low resource settings

Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19.

Primary-care physicians’ access to genetic specialists: an impediment to the routine use of genomic medicine?

A plethora of genetic tests for susceptibility to common complex disorders have made their way onto the market. Groceries, clothing, hardware equipment, plane tickets and, now, even genetic tests can be ordered directly over the internet, from the comfort of your own home, without ever seeing a physician. Is this simply a natural progression, following in the footsteps of home pregnancy tests and blood-pressure monitors, which many people would admit do fulfill a certain niche and accomplish a lot of good for health-conscious consumers? After all, genetic testing is at the root of personalized medicine within the context of specific drug responses (pharmacogenetics). There are examples of genetic variants that do have a significant and clinically relevant effect on drug response; therefore, testing for them can lead to more efficient and cost–effective treatments [1]. However, there are many more examples with questionable validity and usefulness, so this begs the question: do direct-to-consumer (DTC) genetic services, which allow consumers to completely bypass the traditional healthcare system, do more harm than good? Direct-to-consumer genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or ordering of genetic tests without the intermediate of a healthcare professional [2]. Although both aspects are equally important and do raise important ethical issues, they differ sufficiently to warrant separate analyses. This editorial will focus solely on DTC access to genetic testing. Other publications have tackled the issue of advertising [3,4]. Over 1100 genetic tests are available clinically and several hundreds are available in research settings. Although most genetic tests are still only available through a healthcare provider, a growing number of tests

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.

10009 Background: Limited access to genetic services in community practices, leaves many childhood cancer survivors who are genetic carriers unidentified and at risk for subsequent malignant neoplasms (SMNs) due to therapy or an inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluated the effectiveness of an in-home, collaborative PCP (primary care provider) model of remote centralized telehealth services to increase uptake of cancer genetic services in survivors compared to usual care. Methods: 414 survivors were randomized to remote services by phone or videoconference (n = 281) or usual care (n = 133). The primary outcome was uptake of genetic counseling or testing at 6 months. In secondary analyses we evaluated baseline characteristics and patient reported outcomes associated with uptake of services. We used Fisher’s Exact tests, Chi-squared tests, and T-tests for analyses. Results: Participants were identified through the NCI-funded Childhood Cancer Survivor Study and included 189 (45.7%) male, 88 (21.1%) nonwhite participants with mean age 52 years (SD 0.65), recruited from over 40 states with a history of CNS tumors (n = 190, 46%), sarcoma (n = 116, 28%), or SMN or a family history of cancer (n = 108, 26%). At 6 months, 40% (n = 113) of survivors in the remote telehealth services arms utilized genetic services as compared to 16% (n = 21) in the usual care arm (p < 0.001). Factors associated with uptake of services included lower baseline genetic knowledge score (31.0, SD 5.8 without uptake versus 29.7, SD 5.1 with uptake, p = 0.025), having more relatives with cancer (1.6, SD 1.5, without uptake versus 2.0, SD 1.8 with uptake, p = 0.019), having a higher perceived risk of cancer on a Likert scale (3.6, SD 1.0 without uptake versus 3.9, SD 0.8 with uptake, p = 0.011), having a history of internet use (35% uptake with use versus 0% without use, p = 0.040), and not having a high deductible plan (30% uptake with high plan versus 42% without, p = 0.025). Having a higher positive attitude toward genetic testing score (e.g. higher perceived value, lower perception of high cost and lower anticipated distress) was associated with uptake of services (29.5, SD 4.3 without uptake versus 31.2, SD 4.4 with uptake, p < 0.001). Conclusions: These data suggest that offering remote centralized telehealth genetic services increases the uptake of genetic services in survivors of childhood cancer across the US using a collaborative PCP model. Although uptake was higher than usual care, barriers to uptake of genetic services remain, including concerns about cost and negative perceptions about genetic testing. Strategies to address multi-level barriers to genetic services are needed to realize the potential of genetic testing in childhood cancer survivors and patients in community practices. Clinical trial information: NCT04455698 .

Introduction: The field of genetics is rapidly expanding and people are increasingly utilizing genetic testing and counseling services. However, the current literature on genetic health topics and Filipinos remains limited, as many minority populations are not adequately studied. This study describes Filipino Americans’ attitudes and knowledge of genetic disease, genetic testing, and genetic counseling. To address these knowledge gaps and reduce the burden of health disparities, the informational needs of Filipino Americans regarding genetic disease and genetic services must be understood in order to better tailor these services and outreach methods. Methods: Fifteen semi-structured, qualitative interviews were held with individuals who self-identified as Filipino American between November 2022 and January 2023. Interviews were transcribed and coded using an iterative process. Results: Most participants were familiar with genetic disease and believed that factors such as biology, as well as cultural factors such as upbringing and food, contributed to its development. The majority of participants had previously heard of genetic testing; however, most participants either did not know much or were only familiar with ancestry direct-to-consumer genetic testing (DTC-GT). Most participants had not heard of genetic counseling and those that had heard of genetic counseling before did not understand its purpose. Overall, most participants had a positive attitude toward genetic testing and counseling. Participants identified the benefits of these services including genetic disease prevention, management, and treatment. Participants stressed the importance of educating the Filipino community and shared their ideas for how to implement outreach efforts. Discussion/Conclusion: This study found that Filipino Americans generally had a positive outlook on genetic testing and genetic counseling. We propose participant-generated ideas for outreach and education that may help inform future public health efforts that aim to educate this population about genetic disease, testing and counseling.

Access to cancer genetics services in Jordan is limited due to limited genetic counseling workforce, genetic testing options, and absence of formal genetic counseling training programs. As such, non-genetic counseling healthcare providers (NGCHP) are required to fill this gap and are the primary providers of genetic counseling services. Understanding their perspectives and experiences is crucial to bridge the accessibility gap of genetic counseling services in Jordan. This study assessed NGCHP’s perceived utility, comfort, and familiarity with genetic testing and counseling as well as their past genetics training and preferences for continuing education regarding genetic counseling/testing. An online questionnaire was created based on similar studies and input from the study team. Questions included: provider demographics, experience, knowledge, perceptions/attitudes, comfort, education regarding genetic counseling and testing, and hypothetical cancer genetic testing scenarios per National Comprehensive Cancer Network Guidelines. Oncology healthcare providers in Jordan were recruited through the King Hussein Cancer Center, the Jordan Oncology Society, the Jordanian Hematology Association, and LinkedIn. Knowledge was assessed by scoring the responses to questions about hypothetical patient scenarios based on National Comprehensive Cancer Network guidelines. Comparative (linear regression, Pearson, and Spearman correlation) and descriptive analysis were performed using Excel and Stata. There were 33 participants: 88% were male (n = 29,) and 61 % were physicians (n = 20) with 5 years or more of experience. Majority (n=29, 88%) of participants strongly or somewhat agreed that genetic testing is relevant to their current practice and 32 (97%) strongly or somewhat agreed that it would be increasingly useful in the future. Most participants were either very or somewhat comfortable with aspects of genetic counseling. However, there was no statistically significant correlation between level of comfortability and either years of experience (Spearman’s rho= 0.096) or age (P=0.886). The fewest participants were very comfortable with interpreting test results (n=18, 54%) or choosing the correct test (n=18, 54%). When asked specific questions related to patients’ eligibility for germline genetic testing, participants scored 76% or below in the knowledge section. Breast cancer knowledge scores were lowest for questions related to male breast cancer (40%) and triple-negative disease (60%), emphasizing the need for education and training to improve the identification and counseling of eligible patients for genetic testing. Despite minimal formal training NGCHPs are familiar with aspects of the genetic test process. However, there remains a gap in knowledge and how often they are offering or ordering genetic tests suggesting the need for dedicated genetic counseling services in resource-restricted countries. Citation Format: Lulwa El Saket, Allison L. Cirino, Eugene Wong, Sarah Spinette, Perman Gochyev, Bayan Altalla, Sarah Abdel Razeq, Hikmat Abdel Razeq. Perceptions, Attitudes, and Education of Oncology Health Care Providers Regarding Genetic Testing and Counseling in a Resource-Restricted Country [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P3-04-11.

The present study examined caregivers' utilization of and experience with genetic counseling services for their children diagnosed with autism spectrum disorder (ASD). We surveyed 1063 caregivers from the Simons Foundation Powering Autism Research for Knowledge (SPARK). A logistic regression analysis was conducted in SPSS 29.0 to examine the factors associated with caregivers' utilization of genetic counseling for ASD. Caregivers' self-reported experience with the counseling services they received were analyzed using NVivo 14.0. Only 7.4% of the caregivers reported having received the genetic counseling services from genetic counselors, and most of the caregivers had limited awareness of genetic counseling services and knowledge of genetic testing. Caregivers' utilization of genetic counseling services was associated with several factors, including whether they had pursued genetic testing, the caregivers' awareness of genetic counseling services, their knowledge of genetic testing, and the presence of co-occurring intellectual disabilities. These findings underscore the critical role of improving awareness and access to genetic counseling services for families of children with ASD. Additionally, there is a critical need to support caregivers with clear, accessible information about genetic services for ASD. Healthcare providers - particularly pediatricians, developmental specialists, and genetic professionals are encouraged to take a more proactive role in initiating conversations with families about genetic counseling and testing, helping families make informed decisions. Enhancing communication and support around genetic services can better prepare caregivers to navigate the complexities of genetic testing.

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

Genetic Counseling and Testing for Pulmonary Arterial Hypertension in the United States

Background: Given the increasing demand for genetic services and limited genetic workforce, many patients do not receive recommended pre- and post-test genetic counseling. Telemedicine has been used to expand specialized medical services to low access populations. The feasibility and outcomes of telemedicine in clinical genetics are not well described. Methods: Patients at 3 community sites without genetic counseling services received real-time pre-test (V1) and post-test (V2) counseling for cancer susceptibility with a genetic counselor (GC) at a center of expertise via community sites’ and host institution’s computers equipped with web cameras and videoconferencing software. Mixed-methods surveys assessed patient knowledge, satisfaction, psychosocial responses and experiences at baseline (BL), post-V1 and post-V2. We used paired T-tests to assess change between time points and linear regressions. Results: Of 100 patients approached, 83% consented to telegenetic services. To date, 57 have completed BL and V1, and 70% proceeded with genetic testing, 31 patients have received results, including 3 carriers (BRCA2, MSH2, PMS2). Patient characteristics did not differ between those who agreed to and declined telegenetics. 4% of sessions were aborted due to technology failures. 30% experienced disconnections but were completed. Nearly all (94%) were satisfied with their telegenetic experience. Knowledge and satisfaction with telegenetic services significantly increased and general anxiety and depression significantly decreased. Event related (state) anxiety did not change significantly. Table 1.OutcomeBL Mean (sd)Post-V1 Mean(sd)Post-V2 Mean(sd)pKnowledge (6-28)20.9(2.8)22.0 (3.0) 0.007 20.8 (3.3)21.8(3.2)21.5(3.1)NSSGeneral Anxiety (0-21)7.4(4.1)6.6(4.1) 0,02 6.6 ((4.0)5.7 (3.8)5.7 (3.5)0.06Genarla Depression(0-21)3.9 (3.9)3.5 (3.4) 0,05 3.6 (3.7)3.4(3.5)2.9 (3.5)0.07State Anxiety(20-80)36.0(15.2)35.7(13.7) NSS 34.6(15.0)34.5(13.1)32.1(12.5)NSSSatisfaction with Genetic Services 39.5(3.( 39.8(4.0)42.2(3.6)0.002Satisfaction with Telemedicine 51.3(5.6) 51.5(5.7)53.0(5.3)0.008 Patients reported several advantages to telegenetics (e.g. decreased travel burden) and few disadvantages (e.g. audio challenges and technical glitches).Conclusions: Telemedicine delivery of cancer genetic services is feasible, identifies genetic mutation carriers, increases knowledge, decreases anxiety and depression and is associated with high satisfaction, suggesting an innovative model for delivery of genetic services for patients and community practices without access to local genetic providers. Citation Format: Linda Patrick-Miller, Diana Harris, Evelyn Stevens, Brian Egleston, Linda Fleisher, Rebbeca Mueller, Amanda Brandt, Jill Stopfer, Susan Domchek, Angela Bradbury. Telemedicine: Expanding access to cancer genetic services to underserved populations [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P1-11-02.

Understanding Black women’s experiences with genetic services for ovarian cancer: A qualitative study (435)

The number of disorders for which genetic testing is available has increased nearly 500% in the past 15years. Access to genetic tests and services often hinges on physicians' ability to identify patients at risk for genetic disease and provide appropriate testing and counseling or refer to genetic specialists. Recent research demonstrates the need for referrals to genetic specialists by showing that many physicians lack skills required to perform appropriate genetic services, such as making proper risk assessments, providing genetic counseling, ordering genetic testing and interpreting results. However, little research exists on physicians' awareness and utilization of genetic services. In this study, an electronic survey evaluating practicing physicians' awareness of, utilization of and perceived barriers to genetic services in Texas, and interest in learning more about genetics and genetic services was distributed via state physician organizations. Of the 157 participants, approximately half reported they were moderately or very aware of genetic testing and services in their area. Very few reported awareness of telemedicine services. Over two-thirds reported never or rarely referring to genetic counselors or other genetic specialists, despite 75% reporting they had noticed an increased impact of genetics on their field and 61% reporting they had discussed genetics more in their day-to-day practice in the last 5-10years. Only 20% reported genetics was very integral to their specialty. Over three-fourths of all participants indicated interest in learning more about genetics, genetic testing, and genetic services. Among the most frequently chosen barriers to genetic counselors were awareness-related barriers such as not knowing how to refer to a genetic counselor. Responses to many items varied significantly by medical specialty. The results identify a need to increase awareness of genetic services and referral logistics. Specific findings can help direct outreach efforts to educate clinicians, such as developing clinically meaningful, specialty-specific educational objectives.

Background: The availability and variety of cancer genetic testing services have grown tremendously in past years; testing services now offer panels that analyze more than 75 cancer susceptibility genes with results available in just weeks. Engaging the high-risk population in conversations regarding the importance of hereditary cancer screening is a prerequisite to initiating genetic testing and appropriate cancer surveillance. It has been shown that population awareness of cancer genetic testing has increased, but few studies have explored factors that contribute to actual uptake of these services. Methods: A 36-question research survey was adapted from Cycle 3 of the 2014 Health Information National Trends Survey by NCI and distributed online to patients who received genetic counseling at the Ruth Paul Hereditary Cancer Program at the George Washington University Medical Faculty Associates. All patients who presented to the clinic, including those with and without cancer diagnoses, were invited to complete the survey. The survey was divided into four sections: (1) how the patient usually seeks health information, (2) how the patient has used media and the internet to understand cancer genetics, (3) how often the patient visits health professionals, and (4) why the patient pursued testing at the high-risk clinic. Results: Forty-five out of 68 consented individuals completed the online survey. Most patients searched the internet regarding genetic testing in the past (64% vs. 36% who did not) but felt that they learned the most about cancer genetic testing through their health care provider and their family members/friends (49% and 35%, respectively). Though most patients access social networking sites (78%), only 4% shared information and 11% received information regarding cancer genetic testing through one of these sites. Most patients (65%) felt that information obtained from social media regarding cancer genetic testing had no impact on their decision to make an appointment. One-third of respondents (33%) felt that Angelina Jolie's decision to have prophylactic surgery for her known mutation encouraged them to make an appointment while 53% felt it had no impact on their decision. Most patients received a referral from their healthcare providers (91%) to have genetic testing, though 48% of those patients had to ask their doctor about genetic testing before receiving the referral. Conclusions: Many patients use social media and internet resources for education regarding cancer genetic testing. However, most individuals sought genetic counseling services in our Hereditary Cancer Program after discussion with their health care providers. Half of those patients were only referred after raising the topic with their provider. While online resources can raise awareness and educate about cancer genetic counseling, improving uptake and utilization of these critical resources will require education of health care providers. Citation Format: Toltzis S, McHenry A, Stark E, Biagi T, Kaltman R. Social media's impact on patient utilization of high-risk clinics for genetic counseling and testing services [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P3-08-09.

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