eHealth Genetic Testing for Cancer
(eReach2 Trial)
Recruiting in Palo Alto (17 mi)
Age: 18+
Sex: Any
Travel: May Be Covered
Time Reimbursement: Varies
Trial Phase: Academic
Recruiting
Sponsor: Abramson Cancer Center at Penn Medicine
Disqualifiers: Hearing impairment, Vision impairment, Psychiatric condition, others
No Placebo Group
Approved in 1 Jurisdiction
Trial Summary
What is the purpose of this trial?This randomized non-inferiority study will use a 2x2 design where traditional standard-of-care pre-test (visit 1) and post-test (visit 2: disclosure) counseling delivered by a genetic counselor are replaced with a self-directed web-based eHealth intervention to provide critical data to inform optimal ways to deliver clinical genetic testing in eligible individuals, while maintaining quality of care and favorable cognitive, affective and behavioral outcomes.
Do I need to stop my current medications for this trial?
The trial information does not specify whether you need to stop taking your current medications.
What data supports the effectiveness of the treatment eHealth Delivery Alternative, Web-Based Genetic Counseling, Online Genetic Testing Platform for cancer?
Research shows that online genetic counseling and digital tools for genetic services can improve patient satisfaction, knowledge, and engagement, while also making the process more efficient for healthcare providers. These tools have been successfully used in various genetic counseling settings, suggesting they could be effective for cancer-related genetic testing as well.
12345Is eHealth Genetic Testing for Cancer safe for humans?
The research suggests that digital and web-based genetic counseling tools, like eHealth Genetic Testing, are generally safe for humans. They focus on making complex information easy to understand and ensuring user privacy, but more studies are needed to fully understand their psychosocial and behavioral impacts.
36789How is the eHealth Delivery Alternative treatment for cancer genetic testing different from other treatments?
The eHealth Delivery Alternative treatment is unique because it uses an online platform for genetic counseling and testing, which can improve access for patients who face barriers like geographic distance or limited availability of genetic counselors. This approach can be more convenient and efficient compared to traditional in-person genetic counseling sessions.
110111213Eligibility Criteria
This trial is for adults who speak English and meet the guidelines for genetic testing due to cancer risk, but haven't had germline genetic testing before. It's not suitable for those with uncontrolled mental conditions or severe physical impairments that affect communication or understanding of the study.Inclusion Criteria
I am 18 years old or older.
I qualify for genetic testing based on national cancer guidelines.
I am either male or female.
+2 more
Exclusion Criteria
Communication difficulties such as uncorrected or uncompensated speech defects
I do not have severe mental, physical, or cognitive issues that prevent me from understanding this study.
Communication difficulties such as uncorrected or uncompensated hearing and/or vision impairment
Trial Timeline
Screening
Participants are screened for eligibility to participate in the trial
2-4 weeks
Pre-Test Counseling
Participants receive either standard-of-care pre-test counseling with a genetic counselor or a self-directed web-based eHealth pre-test session
1 session
1 visit (in-person or virtual)
Post-Test Counseling
Participants receive either standard-of-care post-test counseling with a genetic counselor or a self-directed web-based eHealth result disclosure session
1 session
1 visit (in-person or virtual)
Follow-up
Participants are monitored for cognitive, affective, and behavioral outcomes after the intervention
1 year
Participant Groups
The study tests if web-based eHealth interventions can replace traditional in-person counseling by a genetic counselor without compromising care quality. Participants are randomly assigned to either standard care or self-directed online sessions before and after genetic testing.
4Treatment groups
Experimental Treatment
Group I: ARM DExperimental Treatment2 Interventions
Visit 1/Pre-Test Session - Self-directed web-based eHealth pre-test session intervention.
Visit 2/Disclosure Session - Self-directed web-based eHealth result disclosure intervention.
Group II: ARM CExperimental Treatment2 Interventions
Visit 1/Pre-Test Session - Self-directed web-based eHealth pre-test session intervention.
Visit 2/Disclosure Session - Standard-of-Care Post-Test Counseling with a genetic counselor.
Group III: ARM BExperimental Treatment2 Interventions
Visit 1/Pre-Test Session - Standard-of-Care Pre-Test Counseling with a genetic counselor.
Visit 2/Disclosure Session - Self-directed web-based eHealth result disclosure intervention.
Group IV: ARM AExperimental Treatment1 Intervention
Visit 1/Pre-Test Session - Standard-of-Care Pre-Test Counseling with a genetic counselor.
Visit 2/Disclosure Session - Standard-of-Care Post-Test Counseling with a genetic counselor.
eHealth Delivery Alternative is already approved in United States for the following indications:
🇺🇸 Approved in United States as eHealth Delivery Alternative for:
- Genetic testing for hereditary cancer risk in individuals with breast, ovarian, pancreatic, and prostate cancer
Find a Clinic Near You
Research Locations NearbySelect from list below to view details:
Abramson Cancer Center at the University of PennsylvaniaPhiladelphia, PA
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Who Is Running the Clinical Trial?
Abramson Cancer Center at Penn MedicineLead Sponsor
Abramson Cancer Center of the University of PennsylvaniaLead Sponsor
National Cancer Institute (NCI)Collaborator
Fox Chase Cancer CenterCollaborator
References
Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors. [2021]To examine the benefit of telehealth over current delivery options in oncology practices without genetic counselors.
Telegenetics use in presymptomatic genetic counselling: patient evaluations on satisfaction and quality of care. [2018]In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large travelling distances, generally showing positive patient outcomes. We think online counselling--including the use of supportive tools that are also available during in-person counseling--of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions. We performed a single-centre pilot study of online genetic counselling for 57 patients who were presymptomatic cardiogenetic (n=17), presymptomatic oncogenetic (n=34) and prenatal (3 couples). One-third of presymptomatic patients we approached consented to online counselling. Patient evaluations of practical aspects, satisfaction and psychological outcomes were assessed and compared with a matched control group. Patients managed to fulfil the preparations, were significantly more satisfied with their counsellor and counselling session than controls and were satisfied with the online counselling more than they expected to be beforehand. Psychological outcomes (decreased anxiety and increased control) did not differ with control patients. Technical problems occurred in almost half of online sessions. Nonetheless, online counselling in patients' homes proved to be feasible and was appreciated by a substantial part of presymptomatic patients at our genetics centre in the Netherlands. Based on these outcomes, we conclude online counselling can be a valuable addition to existing counselling options in regular patient care.
Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review . [2018]Genetic counseling is vital in helping people at high risk for hereditary breast and ovarian cancer (HBOC) make informed decisions to undergo BRCA testing. Many people, particularly those in rural locations, lack access to these services. This review examines evidence to determine if remotely delivered genetic counseling via telephone or telemedicine is an effective alternative to in-person counseling for people who are at high risk for HBOC. .
Patient-facing digital tools for delivering genetic services: a systematic review. [2023]This study systematically reviewed the literature on the impact of digital genetics tools on patient care and system efficiencies. MEDLINE and Embase were searched for articles published between January 2010 and March 2021. Studies evaluating the use of patient-facing digital tools in the context of genetic service delivery were included. Two reviewers screened and extracted patient-reported and system-focused outcomes from each study. Data were synthesised using a descriptive approach. Of 3226 unique studies identified, 87 were included. A total of 70 unique digital tools were identified. As a result of using digital tools, 84% of studies reported a positive outcome in at least one of the following patient outcomes: knowledge, psychosocial well-being, behavioural/management changes, family communication, decision-making or level of engagement. Digital tools improved workflow and efficiency for providers and reduced the amount of time they needed to spend with patients. However, we identified a misalignment between study purpose and patient-reported outcomes measured and a lack of tools that encompass the entire genetic counselling and testing trajectory. Given increased demand for genetic services and the shift towards virtual care, this review provides evidence that digital tools can be used to efficiently deliver patient-centred care. Future research should prioritise development, evaluation and implementation of digital tools that can support the entire patient trajectory across a range of clinical settings. PROSPERO registration numberCRD42020202862.
Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service. [2018]Although telegenetics as a telehealth tool for online genetic counseling was primarily initiated to improve access to genetics care in remote areas, the increasing demand for genetic services with personalized genomic medicine, shortage of clinical geneticists, and the expertise of established genetic centers make telegenetics an attractive alternative to traditional in-person genetic counseling. We review the scope of current telegenetics practice, user experience of patients and clinicians, quality of care in comparison to traditional counseling, and the advantages and disadvantages of information and communication technology in telegenetics. We found that live videoconference consultations are generally well accepted by both clients and clinicians, and these have been successfully used in several genetic counseling settings in practice. Future use of telegenetics could increase patients' access to specialized care and help in meeting the increasing demand for genetic services.
Paradigmatic Approach to Support Personalized Counseling With Digital Health (iKNOW). [2023]iKNOW is the first evidence-based digital tool to support personalized counseling for women in Germany with a hereditary cancer risk. The counseling tool is designed for carriers of pathogenic gBRCA (germline breast cancer gene) variants that increase the lifetime risk of breast and ovarian cancer. Carriers of pathogenic variants are confronted with complex, individualized risk information, and physicians must be able to convey this information in a comprehensible way to enable preference-sensitive health decisions. In this paper, we elaborate on the clinical, regulatory, and practical premises of personalized counseling in Germany. By operationalizing these premises, we formulate 5 design principles that, we suggest, are specific enough to develop a digital tool (eg, iKNOW), yet wide-ranging enough to inform the development of counseling tools for personalized medicine more generally: (1) digital counseling tools should implement the current standard of care (eg, based on guidelines); (2) digital counseling tools should help to both standardize and personalize the counseling process (eg, by enabling the preference-sensitive selection of counseling contents from a common information base); (3) digital counseling tools should make complex information easy to access both cognitively (eg, by using evidenced-based risk communication formats) and technically (eg, by means of responsive design for various devices); (4) digital counseling tools should respect the counselee's data privacy rights (eg, through strict pseudonymization and opt-in consent); and (5) digital counseling tools should be systematically and iteratively evaluated with the users in mind (eg, using formative prototype testing to ensure a user-centric design and a summative multicenter, randomized controlled trial). On the basis of these paradigmatic design principles, we hope that iKNOW can serve as a blueprint for the development of more digital innovations to support personalized counseling approaches in cancer medicine.
Controversies in communication of genetic risk for hereditary breast cancer. [2022]Increased availability and heightened consumer awareness of "cancer genes" has increased consumer interest in, and demand for breast cancer risk assessment, and thus a pressing need for providers to identify effective, efficient methods of communicating complicated genetic information to consumers and their potentially at-risk relatives. With increasing direct-to-consumer and -physician marketing of predictive genetic tests, there has been considerable growth in web- and telephone-based genetic services. There is urgent need to further evaluate the psychosocial and behavioral outcomes (i.e., risks and benefits) of telephone and web-based methods of delivery before they become fully incorporated into clinical care models. Given the implications of genetic test results for family members, and the inherent conflicts in health care providers' dual responsibilities to protect patient privacy and to "warn" those at-risk, new models for communicating risk to at-risk relatives are emerging. Additional controversies arise when the at-risk relative is a minor. Research evaluating the impact of communicating genetic risk to offspring is necessary to inform optimal communication of genetic risk for breast cancer across the lifespan. Better understanding the risks and benefits associated with each of these controversial areas in cancer risk communication are crucial to optimizing adherence to recommended breast cancer risk management strategies and ensuring psycho-social well-being in the clinical delivery of genetic services for breast cancer susceptibility.
Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer. [2020]The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations.
Next-generation universal hereditary cancer screening: implementation of an automated hereditary cancer screening program for patients with advanced cancer undergoing tumor sequencing in a large HMO. [2023]Variants in hereditary cancer risk genes are frequently identified following tumor-based DNA sequencing and represent an opportunity to diagnose hereditary cancer. We implemented an automated hereditary cancer screening program in a large HMO for all patients who underwent tumor-based DNA sequencing to identify patients with hereditary cancer and determine if this approach augmented existing genetic counseling approaches driven by personal/family history criteria. Regular automated searches of a centralized tumor DNA variant database were performed for ATM, BRCA1, BRCA2, MLH1, MSH2, MSH6, PALB2, and/or PMS2 variants, and germline hereditary cancer gene panel testing was offered to patients with tumor variants who had never undergone germline testing. Patients completing germline testing due to their tumor DNA test results were considered part of the tumor DNA safety net. Patients previously completing germline testing via traditional genetic counseling and tumor DNA safety net were compared for demographics, tumor type, presence of germline pathogenic/likely pathogenic (P/LP) variant, and whether NCCN criteria were met for hereditary cancer genetic testing. Germline P/LP variants were common in both groups. Patients who received germline testing through traditional genetic counseling were more likely to have cardinal hereditary tumors than the tumor DNA safety net group. Patients identified with hereditary cancer through traditional genetic counseling were more likely to meet NCCN personal/family history criteria for germline testing than the tumor DNA safety net group (99% versus 34%). A universal tumor DNA safety net screen is an important diagnostic strategy which augments traditional genetic counseling approaches based on personal/family history.
Interactive e-counselling for genetics pre-test decisions: where are we now? [2022]In-person genetic counselling (GC) is the model typically used to provide patients with information regarding their genetic testing options. Current and emerging demand for genetic testing may overburden the health care system and exceed the available numbers of genetic counsellors. Furthermore, GC is not always available at times and places convenient for patients. There is little evidence that the in-person model alone is always optimal and alternatives to in-person GC have been studied in genetics and other areas of health care. This review summarizes the published evidence between 1994 and March 2014 for interactive e-learning and decisional support e-tools that could be used in pre-test GC. A total of 21 papers from 15 heterogeneous studies of interactive e-learning tools, with or without decision aids, were reviewed. Study populations, designs, and outcomes varied widely but most used an e-tool as an adjunct to conventional GC. Knowledge acquisition and decisional comfort were achieved and the e-tools were generally well-accepted by users. In a time when health care budgets are constrained and availability of GC is limited, research is needed to determine the specific circumstances in which e-tools might replace or supplement some of the functions of genetic counsellors.
Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction. [2022]Genetic counselling (GC) is an integral component in the care of individuals at risk for hereditary cancer predisposition syndromes (CPS). In many jurisdictions, access to timely counselling and testing is limited by financial constraints, by the shortage of genetics professionals and by labor-intensive traditional models of individual pre and post-test counselling. There is a need for further research regarding alternate methods of GC service delivery and implementation. This quality improvement project was initiated to determine if pretest group GC followed immediately by a 'mini' individual session, would be acceptable to patients at risk for hereditary breast and colon cancer.
Genetic Counseling and Testing in a Community Setting: Quality, Access, and Efficiency. [2019]There is an increasing need for genetic counseling and testing for individuals diagnosed with cancer, as treatment may be affected by the results. In addition, the identification of individuals before a diagnosis of cancer allows for optimal surveillance and early detection and prevention of cancer. With the recognition that as much as 10% of all cancers are hereditary, there is a growing need to improve access to genetic counseling and genetic testing, both before and at the time of diagnosis. This article focuses on models of identifying at-risk patients, including underserved communities; providing genetic counseling and testing in community practices; using telehealth; and collaborating with nongenetics health care providers and technological solutions to maximize efficiency and access.
Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. [2022]The growing demand for cancer genetic services underscores the need to consider approaches that enhance access and efficiency of genetic counseling. Telephone delivery of cancer genetic services may improve access to these services for individuals experiencing geographic (rural areas) and structural (travel time, transportation, childcare) barriers to access.