Genetic Predisposition, Genetic Predisposition to Disease
Conditions
Keywords
Genetic Predisposition to Disease, Genetic Predisposition, Genetic Testing, Cancer Risk Syndromes, VUS, Variant of Uncertain Significance, Pathogenic Variant
Brief summary
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS). The name of the intervention used in this research study is: Nest portal (electronic platform for patients and clinicians)
Detailed description
The goal of the electronic platform Nest is to help patients understand and manage genetic test results and recommended care and to help clinicians with access to results and recommendations, facilitating orders, and documentation. The portal has two parts, one for participants and one for clinicians. For the first phase of the study, participants will give their feedback on the Nest portal's content and processes that will guide refinement of the portal. The Pilot phase will test the feasibility and acceptability of the intervention. The research study procedures include a baseline survey, using the portal after receiving a brief orientation from the study team, a follow-up survey, and then a 30-minute interview. Participants will be in this research study for up to 2 hours. It is expected that about 40 people will take part in this research study. The electronic platform is being developed by Nest Genomics.
Interventions
BEHAVIORALNest Platform
Patient- and clinician-facing portal via secure link
Sponsors
Dana-Farber Cancer Institute
Nest Genomics
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 39 Years
Healthy volunteers
Yes
Inclusion criteria
AIM 1: * YA Patients: * Ages 18-39 years, inclusive. * Has had previous cancer genetic testing, with a finding of a pathogenic variant or VUS; patient has previously received results from the clinical team. * English-speaking and -reading. * Receiving care at DFCI. * Not undergoing active cancer therapy at the time of approach. * Clinicians: * Cancer risk physicians (oncologists, gastroenterologists, geneticists), oncologists, nurse practitioners, physician assistants, or genetic counselors. * English-speaking and -reading. * Cares for YAs aged 18-39 with cancer risk syndromes. Inclusion Criteria AIM 2: * YA Patients: * Ages 18-39 years, inclusive. * Has had previous cancer genetic testing, with a finding of a pathogenic variant or VUS; patient has previously received results from the clinical team. * English-speaking and -reading. * Receiving care at Dana-Farber Cancer Institute. * Did not participate in a stakeholder interview (Aim 1). * Not undergoing active cancer therapy at the time of approach. * Clinicians: * Oncologists, nurse practitioners, cancer risk physicians, or genetic counselors. * English-speaking and -reading. * Caring for a participating YA.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of Participant Utilization (Feasibility) | 2 hours | Defined as \> 70% of consenting participants who use the intervention. |
| Proportion of Clinician Utilization (Feasibility) | 2 hours | Defined as \> 70% of consenting clinicians who use the intervention. |
| Proportion of Clinicians with FIM (Feasibility of Intervention Measure) Score > 4 | At post-visit survey, up to 2 hours | Defined as \>70% of clinicians consider the intervention feasible as assessed by the post-visit survey. |
| Proportion of Participants with AIM (Acceptability of Intervention Measure) Score > 4 | At post-visit survey, up to 30 days | Defined as \> 70% of young adult participants consider the intervention successful as measured by a post-visit AIM score \>4 |
| Proportion of Clinicians with AIM Score > 4 | at post-visit survey, up to 2 hours | Defined as \> 70% of clinicians consider the intervention successful as measured by a post-visit AIM score \>4 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in knowledge of cancer risk | Baseline and post visit up to 2 hours | Change in cancer knowledge will be assessed by participant survey at baseline and post visit. |
| Change in Recommended screening | Baseline and post visit up to 2 hours | Change in Recommended screening will be assessed by participant survey at baseline and post visit. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORJennifer Mack, MD
Dana-Farber Cancer Institute
Outcome results
None listed