Genetic Testing Intervention for Cancer Risk
Recruiting in Palo Alto (17 mi)
+7 other locations
Age: 18+
Sex: Any
Travel: May Be Covered
Time Reimbursement: Varies
Trial Phase: Academic
Recruiting
Sponsor: Memorial Sloan Kettering Cancer Center
Disqualifiers: No email, No consent, Others
No Placebo Group
Trial Summary
What is the purpose of this trial?The purpose of this study is to examine the impact of new cancer genetic counseling models that aim to increase patient engagement with the genetics team. To do this, the study consists of two trials to evaluate two related interventions. The first trial is the EfFORT Trial, which evaluates a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. The study will look at how often genetic testing occurs when healthcare providers have permission to reach out to family members to recommend genetic testing and to help those who are interested get tested. The study will look at whether this cascade testing intervention is practical and effective. The study would like to see how this approach of healthcare providers reaching out directly to family members compares with the usual approach of patients telling their family members about the recommendation to get genetic testing. The second trial is the STRIVE Trial, which evaluates an intervention designed to help patients who receive an uncertain result from genetic testing (also called a "variant of uncertain significance") stay connected with their genetics care team, and to help patients and their primary care providers stay up-to-date about the meaning of uncertain genetic test results. The study will look at whether an intervention that consists of a study online portal for patients with uncertain genetic test results and their primary care providers will help them to stay up-to-date on the meaning of uncertain genetic test results. The study would like to see how this intervention compares to the usual approach of encouraging patients to re-contact their genetics care team on their own about a year after getting genetic testing."
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. It's best to discuss this with the trial coordinators or your healthcare provider.
What data supports the effectiveness of the treatment Intervention Arm At-risk Relative/ARR Contacts for cancer risk?
Research shows that interventions designed to help families communicate genetic testing results can improve the rate of relatives undergoing genetic testing for cancer risk. Specifically, these interventions have been effective in increasing cascade genetic testing for hereditary breast and ovarian cancer and Lynch syndrome, which can lead to better cancer prevention and early detection.
12345Is genetic testing for cancer risk safe for humans?
The research on genetic testing for cancer risk, including methods like cascade testing, suggests it is generally safe for humans. These studies focus on the process of notifying and testing at-risk relatives, and while they don't specifically address safety concerns, they imply that the testing itself is not harmful.
45678How does the Genetic Testing Intervention for Cancer Risk treatment differ from other treatments?
This treatment is unique because it focuses on improving family communication about genetic risks, encouraging relatives to undergo genetic testing, and facilitating 'cascade' testing, which is not typically emphasized in standard cancer treatments. It uses tools like online platforms and direct counselor contact to enhance outreach and communication, which are novel approaches compared to traditional methods.
125910Eligibility Criteria
This trial is for adults over 25 who are patients at MSK, have recently received genetic counseling there, and understand English. They must have a relative also eligible to join. It's for those with certain gene mutations linked to cancer risk or relatives of such individuals. People can't join if they're unable or unwilling to consent, use the MyMSK patient portal, or don't have an email address.Inclusion Criteria
Self-reported comprehension of written and verbal English language
Has at least one ARR who meets criteria for study enrollment (see below)
Current MSK patient
+4 more
Exclusion Criteria
Is unwilling or unable to create a MyMSK patient portal account (see section 3.0 on MyMSK patient usage at MSK and CGS)
Is unwilling or unable to provide informed consent
I do not have an email address.
Trial Timeline
Screening
Participants are screened for eligibility to participate in the trial
2-4 weeks
EfFORT Trial Intervention
Provider-facilitated cascade genetic testing through telegenetics pre- and post-test counseling and saliva-based at-home testing
12 months
Ongoing virtual engagement
STRIVE Trial Intervention
Digitally-facilitated VUS follow-up with access to MyGene Portal for continuous engagement and updates
12 months
Ongoing virtual engagement
Follow-up
Participants are monitored for safety and effectiveness after treatment
4 weeks
Participant Groups
The study tests a 'cascade' approach where healthcare providers contact family members directly about genetic testing for inherited cancer risks versus the usual method of patients informing their relatives themselves.
5Treatment groups
Experimental Treatment
Active Control
Group I: STRIVE Trial Intervention Arm: Digitally-Facilitated VUS Follow-UpExperimental Treatment1 Intervention
Following standard of care post-test genetic counseling, patients will be provided access to the MyGene Portal. Through this portal, participants will be able to continuously engage with interactive educational materials including information about Variant of uncertain significance/VUS results and recommendations, access tools for participants to communicate with the CGS team, access the interactive pedigree (FamGenix) to provide updates about personal/family medical history, receive notifications about VUS reclassification, and receive reminders to self-schedule a follow-up clinical visit to discuss updates. In this way, participants will have a transparent, ongoing, and structured follow-up plan for their VUS management.
Group II: EfFORT Trial Intervention Arm: Provider-Facilitated Cascade Genetic TestingExperimental Treatment1 Intervention
Intervention arm-: Behavioral: Probands will give contact info for their ARR in the eDGP and indicate a date by which they will discuss the familial pathogenic variant with their ARR (can request a delay/halt to outreach). After this date the team will contact the ARR to invite them to review education and e-consent to the study. The study team will facilitate ARR cascade testing through telegenetics pre- and post-test counseling and saliva-based at home testing through MSK or a reference laboratory.
Group III: STRIVE Trial Control Arm: Patient-Led VUS Follow-UpActive Control1 Intervention
Patients will receive standard of care post-test genetic counseling and discussion of implications for relatives, if any. Consistent with standard practice, most patients will likely be recommended against telling their relatives to seek genetic testing for the Variant of uncertain significance/VUS because it is not clinically useful. All participants with a VUS will be recommended to re-contact the MSK CGS in 1-2 years for updated information related to the VUS result
Group IV: EfFORT Trial De-Identified Non-Randomized Control ArmActive Control1 Intervention
This control arm is comparable to true standard of care.
Group V: Proband-Mediated Cascade Genetic TestingActive Control2 Interventions
Control arm- Behavioral: As per standard of care, probands will be given a Family Letter by their genetic counselor that they will be instructed to share with their at-risk relatives (ARR). In addition to the recommendation that ARR undergo genetic counseling and a list of local genetics clinics, this letter will include a link to the eDGP through which control ARR can enroll onto the present study. For these ARR, the eDGP will only be used to obtain study e-consent and to administer study surveys.
Find a Clinic Near You
Research Locations NearbySelect from list below to view details:
Memorial Sloan Kettering Nassau (Limited Protocol Activity)Uniondale, NY
Memorial Sloan Kettering Monmouth (Limited Protocol Activities)Middletown, NJ
Memorial Sloan Kettering Suffolk - Commack (Limited Protocol Activities)Commack, NY
Memorial Sloan Kettering Bergen (Limited Protocol Activity)Montvale, NJ
More Trial Locations
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Who Is Running the Clinical Trial?
Memorial Sloan Kettering Cancer CenterLead Sponsor
References
Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis. [2021]Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC (n = 5); both HBOC and LS (n = 4); LS (n = 3); or ovarian cancer (n = 2). All protocols (n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids (n = 4), building communication skills (n = 4), or motivational interviewing (n = 1). The overall effect size for family communication was small (g = 0.085) and not significant (p = 0.344), while for cascade testing, it was small (g = 0.169) but significant (p = 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review. [2023]Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to increase disclosure of genetic risk to at-risk relatives. MEDLINE, Embase, CINAHL, PubMed and PsycINFO were searched for publications between 1990-2020. The quality of studies was assessed. From 5605 records reviewed, 9 studies (4 randomised control trials and 5 cohort studies) were included involving families with BRCA1, BRCA2 and Lynch syndrome. Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4-60.0% contacted a genetics clinic and 22.8-76.2% had genetic testing after they were counselled at a genetics clinic. Significant differences between intervention and control group were reported on all three outcomes by one study, and with relatives contacting a genetics clinic by another study. The studies suggest but do not conclusively show, that tailored genetic counselling with additional follow-up can increase both the proportion of informed relatives and relatives who contact the genetics clinic. With the increase in germline testing, interventions are required to consider the family communication process and address post-disclosure variables (e.g., relative's perceptions, emotional reactions) through engagement with probands and relatives to maximise the public health benefit of identifying inherited cancer risk in families.
Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. [2023]Evidence-based guidelines recommend cascade genetic counseling and testing for hereditary cancer syndromes, providing relatives the opportunity for early detection and prevention of cancer. The current standard is for patients to contact and encourage relatives (patient-mediated contact) to undergo counseling and testing. Direct relative contact by the medical team or testing laboratory has shown promise but is complicated by privacy laws and lack of infrastructure. We sought to compare outcomes associated with patient-mediated and direct relative contact for hereditary cancer cascade genetic counseling and testing in the first meta-analysis on this topic.
IMProving care After inherited Cancer Testing (IMPACT) study: protocol of a randomized trial evaluating the efficacy of two interventions designed to improve cancer risk management and family communication of genetic test results. [2023]Implementing genetic testing for inherited cancer predisposition into routine clinical care offers a tremendous opportunity for cancer prevention and early detection. However, genetic testing itself does not improve outcomes; rather, outcomes depend on implemented follow-up care. The IMPACT study is a hybrid type I randomized effectiveness-implementation trial to simultaneously evaluate the effectiveness of two interventions for individuals with inherited cancer predisposition focused on: 1) increasing family communication (FC) of genetic test results; and 2) improving engagement with guideline-based cancer risk management (CRM).
Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome. [2022]Identifying at-risk relatives of individuals with genetic conditions facilitates 'cascade' genetic testing and cancer prevention. Although current standards of care give mutation-positive (index) patients the responsibility of sharing genetic risk information with relatives, the communication is suboptimal, limited largely to close relatives. We developed FamilyCONNECT, a provider-mediated, patient-navigated online tool to facilitate family outreach, and assessed its feasibility, usability and acceptability.
Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation. [2022]Genetic testing for pathogenic variants associated with hereditary breast and ovarian cancer risk can improve cancer outcomes through enhanced preventive care in both people with known variants and their biologic relatives. Cascade screening-the process of case-finding in relatives by notifying and inviting them to consider testing-currently relies on the patient to notify their own at-risk relatives. However, many of these relatives never learn they might be at risk. We developed and implemented a new health system-led familial genetic risk notification process where the care team offers to contact at-risk relatives directly. This protocol describes a study to assess the feasibility, acceptability, and limited efficacy of this intervention.
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. [2020]In cascade testing, genetic testing for an identified familial pathogenic variant extends to disease-free relatives to allow genetically targeted disease prevention. We evaluated the results of an online initiative in which carriers of 1 of 30 cancer-associated genes, or their first-degree relatives, could offer low-cost testing to at-risk first-degree relatives. In the first year, 1101 applicants invited 2280 first-degree relatives to undergo genetic testing. Of invited relatives, 47.5% (95% confidence interval [CI] = 45.5 to 49.6%) underwent genetic testing, and 12.0% (95% CI = 9.2 to 14.8%) who tested positive continued the cascade by inviting additional relatives to test. Of tested relatives, 4.9% (95% CI = 3.8 to 6.1%) had a pathogenic variant in a different gene from the known familial one, and 16.8% (95% CI = 14.7 to 18.8%) had a variant of uncertain significance. These results suggest that an online, low-cost program is an effective approach to implementing cascade testing, and that up to 5% of the general population may carry a pathogenic variant in 1 of 30 cancer-associated genes.
Facilitated cascade testing (FaCT): a randomized controlled trial. [2022]Identifying mutation-carrying relatives of patients with hereditary cancer syndromes via cascade testing is an underused first step in primary cancer prevention. A feasibility study of facilitated genetic testing of at-risk relatives of patients with a known pathogenic mutation demonstrated encouraging uptake of cascade testing.
Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas. [2017]The prevalence of BRCA1 and BRCA2 mutations among unselected breast cancer patients in the Bahamas is 23%. It is beneficial to advise relatives of mutation carriers that they are candidates for genetic testing. Women who test positive are then eligible for preventive interventions, such as oophorectomy. It is not clear how often relatives of women with a mutation in the Bahamas wish to undergo genetic testing for the family mutation. Furthermore, it is not clear how best to communicate this sensitive information to relatives in order to maximize patient compliance. We offered genetic testing to 202 first-degree relatives of 58 mutation carriers. Of 159 women who were contacted by the proband or other family member, only 14 made an appointment for genetic testing (9%). In contrast, among 32 relatives who were contacted directly by the genetic counselor, 27 came for an appointment (84%). This study suggests that for recruitment of relatives in the Bahamas, direct contact by counselor is preferable to using the proband as an intermediary.
Your Family Connects: A Theory-Based Intervention to Encourage Communication About Possible Inherited Cancer Risk among Ovarian Cancer Survivors and Close Relatives. [2023]Encouraging family communication about possible genetic risk has become among the most important avenues for achieving the full potential of genomic discovery for primary and secondary prevention. Yet, effective family-wide risk communication (i.e., conveying genetic risk status and its meaning for other family members) remains a critical gap in the field. We aim to describe the iterative process of developing a scalable population-based communication outreach intervention, Your Family Connects, to reach ovarian cancer survivors and close relatives to communicate the potential for inherited risk and to consider genetic counseling.