Clinical Trial Details
— Status: Not yet recruiting
Administrative data
NCT number |
NCT06278883 |
Other study ID # |
Pro00115007 |
Secondary ID |
R01HG011794 |
Status |
Not yet recruiting |
Phase |
N/A
|
First received |
|
Last updated |
|
Start date |
April 2024 |
Est. completion date |
June 30, 2025 |
Study information
Verified date |
March 2024 |
Source |
Duke University |
Contact |
Alexander S Parker, PhD |
Phone |
(904) 244-9478 |
Email |
alexander.parker[@]jax.ufl.edu |
Is FDA regulated |
No |
Health authority |
|
Study type |
Interventional
|
Clinical Trial Summary
The "Genomic medicine Risk Assessment Care for Everyone" (GRACE)" intervention project will
develop a scalable end-to-end solution for risk assessment and management that meets the
needs of those populations living in low resource settings. The long-term goal is to increase
access to and uptake of risk-informed evidence-based guidelines that will improve population
health through better patient outcomes, higher quality of life, and decreased costs. The
three primary aims are:
Aim 1: Develop a scalable implementation framework that guides each unique clinical setting,
including low resource settings, in deploying GRACE effectively for the needs of their
patients and providers.
Aim 2: Facilitate the potential for genomic medicine to promote population health by
broadening access to and uptake of genomic risk assessment by the general population through
a pragmatic implementation-effectiveness trial of GRACE.
Aim 3: Reduce health disparities related to genomic medicine by allowing individual adaption
of GRACE to suit their level of resources, education, and access within a pragmatic
implementation-effectiveness trial.
Three sets of participants will be engaged: patients (n=750), providers (n=25), and family
members of "probands" (i.e., patients that have a genetic change that increases risk, n~500).
Patient participants will be asked to complete a baseline survey, enter their family health
history information into MeTree (a family health history web-based platform) and complete a
survey about their experience using the platform. Subsequent study procedures will depend on:
1) the results of their MeTree risk evaluation, 2) their acceptance/declination of genetic
testing (for those categorized as needing testing by MeTree), and 3) the results of the test
(for those accepting testing).
Provider participants will be providers who are the primary care physicians treating one or
more patients enrolled in the patient participant group. Providers will be notified on a
patient by patient basis once the patient participant under their care has complete the risk
assessment process and the risk report is available from MeTree. At study completion,
provider participants will be asked to complete a survey about their demographics, practice,
and experiences with the study.
Blood relatives of the probands who are identified by the proband as open to engaging with
the study will be contacted and offered genetic counseling and genetic testing.
Description:
The "Genomic medicine Risk Assessment Care for Everyone" (GRACE)" project will define, deploy
and evaluate a new care delivery model. Specifically, the GRACE project will develop a
scalable end-to-end solution for risk assessment and management that meets the needs of those
populations living in low resource settings. The long-term goal is to increase access to and
uptake of risk-informed evidence-based guidelines that will improve population health through
better patient outcomes, higher quality of life, and decreased costs. The central hypothesis
is that combining a Family Health History (FHH) -driven risk assessment tool (in this case
MeTree), family engagement, and a genetic testing delivery system, will create a solution
that engages and increases the proportion of diverse patients who are identified as at
increased risk, who undergo testing, and, when appropriate, who initiate cascade genetic
testing among relatives. The three primary aims are:
Aim 1: Develop a scalable implementation framework that guides each unique clinical setting,
including low resource settings, in deploying GRACE effectively for the needs of their
patients and providers.
Aim 2: Facilitate the potential for genomic medicine to promote population health by
broadening access to and uptake of genomic risk assessment by the general population through
a pragmatic implementation-effectiveness trial of GRACE.
Aim 3: Reduce health disparities related to genomic medicine by allowing individual adaption
of GRACE to suit their level of resources, education, and access within a pragmatic
implementation-effectiveness trial.
This trial is a cluster step wedge design, meaning that while the trial will ultimately be
implemented in five family medicine clinics at the University of Florida Health System, it
will be implemented in only one clinic at a time.
Briefly, when one clinic has completed enrollment of the target number of patients (n=150)
and providers (n=3-5), then the investigators will advance to enrolling patients and
providers in the next clinic. That is, the investigators will not wait until blood relatives
of the probands are recruited before moving to the next clinic. Finally, in the spirit of
implementation science, the investigators will evaluate the lessons learned, barriers and
facilitators from each clinic and use this knowledge so that the next clinic will benefit
from the experiences of the previous ones.
Three sets of participants will be engaged: patients (n=750), providers (n=25), and family
members of "probands" (i.e., patients that have a genetic change that increases risk, n~500).
Patient participants will be asked to complete a baseline survey, enter their family health
history information into MeTree (a family health history web-based platform) and complete a
survey about their experience using the platform. Once data entry in MeTree is complete, all
participants will be able to view and download a personalized patient report within the
platform outlining their familial and genetic/hereditary risk status that includes medical
conditions according to current evidence-based guidelines. The report will indicate whether
the participant has a) population-level risk (also referred to as not at high risk)
suggesting nothing different needs to be done with their preventive care, b) familial risk
(suggesting a change in care, but no need for genetic testing), or c) hereditary risk
(suggesting a need for genetic testing and that they might also meet criteria for changes in
preventive care).
Subsequent study procedures will depend on: 1) the results of their MeTree risk evaluation,
2) their acceptance/declination of genetic testing (for those categorized as needing testing
by MeTree), and 3) the results of the test (for those accepting testing). Based on these
three factors, patients will fall into one of five groups (see below).
GROUP 1: Not at High Risk, No Testing Recommended (n~400).
GROUP 2: Familial Risk, Genetic Testing not recommended, clinical care recommended (n~100).
GROUP 3: Genetic Risk, Testing Recommended, Testing Declined, (n~60)
GROUP 4: Genetic Risk, Testing Recommended, Testing Accepted, Negative Test Result (n~140)
GROUP 5: Genetic Risk, Testing Recommended, Testing Accepted, Positive Test Result (n~50)
Participants in Groups 1 and 2 will be asked to complete a survey to assess their reflections
on their risk assessments. After completing this survey, they will have completed all study
activities.
Study procedures for participants in Groups 3-5 (those identified as having a hereditary
risk) will be determined by the number of diseases they are at risk for according the MeTree
risk assessment.
- Patient participants identified to be at genetic risk of multiple diseases under study
(i.e. certain cancers and/or cardiovascular and/or liver diseases) will be contacted a
genetic counselor who will provide clinical pre-test genetic counseling, which is part
of normal clinical care for genetic counseling. The genetic counselor will offer these
patient participants genetic testing, which they can decline. Of note, their
acceptance/declination and the results of the test (for those who accept testing) will
determine if they are in Group 3, 4 or 5).
- Patient participants identified to be at genetic risk for a single disease under study
(i.e. certain cancer, cardiovascular, or liver diseases) will be provided with access a
virtual Genetic Information Assistant (GIA) chatbot that is specific to their risk
category. They will also be invited to view a short video describing the purpose of the
chatbot. Once in the chatbot, participants will be offered genetic counseling through
GIA or the option to obtain clinical genetic counseling through a study genetic
counselor. If the participant does not access the GIA chatbot within 2 weeks after
having access, a team member will contact the participant to offer support for GIA or
genetic counseling with a study genetic counselor.
- Patient participants who decline to undergo genetic counseling or testing (Group 3) will
be asked why they elected not to receive genetic counseling or genetic testing. They
will also be asked to complete a survey about their experience with the study. After
completing this survey, participants in Group 3 will have completed the study.
- Patient participants who agree to undergo genetic counseling and genetic testing will
receive a saliva collection test kit for genetic testing to mail to Invitae, the company
that will assist with genetic testing. A mobile phlebotomy unit will also be available
and can be deployed to collect blood for genetic testing, if preferred/needed.
- For patient participants whose genetic test result is negative (Group 4),
suggesting no evidence of a genetic change that increases risk of diseases under
study, results will be returned by GIA if they had pre-test counseling by GIA or by
a study genetic counselor if they had pre-test counseling by a study genetic
counselor. After the genetic test results are returned, participants in this group
will be asked to complete a survey about their experience with genetic counseling.
After completing this survey, participants in Group 4 will have completed the
study.
- For patient participants whose genetic test result is positive (Group 5),
suggesting evidence of a genetic change that increases risk of one or more of the
diseases under study, a study genetic counselor will return their results and
encourage them to share their results with blood-related family members, as is
standard practice during routine return of result counseling for those with a
positive finding. The study genetic counselor will give the patient participant a
standard family member letter to help facilitate sharing of information and cascade
screening. Participants will be asked to complete a post genetic counseling/genetic
testing survey, which includes questions regarding whether they shared information
with blood-related family members, with whom, and contact information for adult
blood-related family members who have indicated they are receptive to direct
contact by the study team about cascade screening. After completing this survey,
these participants will have completed the study.
Blood relatives of the probands who are identified by the proband as open to engaging with
the study will be contacted. If they are a resident in North Carolina, Florida, South
Carolina, West Virginia, New York, Maine, Texas, Mississippi, Missouri, Kansas, Colorado,
Arizona, or Alaska, they will be offered genetic counseling with study genetic counselor.
GRACE study genetic counselors are licensed in both Florida and North Carolina. The other
states listed do not require in-state licensure for genetic counseling. If the blood relative
is not a resident in one of these states, a study team member will provide recommendations
for genetic counseling and testing, including through a) University of Pennsylvania's eREACH
2.0 study where participants can receive free genetic counseling and family variant testing
regardless of state of residence, b) Genome Medical (a company associated with Invitae who
will do the proband's genetic testing), who offers pre- and post-test genetic counseling
sessions for $199. The family variant testing itself is free through Invitae, and c) the
National Society of Genetic Counselors "Find a Genetic Counselor" resource. Approximately 3
months after consenting to participate in the study, blood relatives will receive a survey
about their perceptions and experience with the direct contact process, what the patient
participant shared with them prior to contact by the study team member, if they have been
given the family member letter, what information they found helpful, if they had any concerns
about the process, what information helped them decide whether to get counseling, what their
decision was, what information was helpful in making this decision, and what factors informed
their decision to get testing or not. After completing the survey, blood relatives will have
completed the study.
Provider participants will be providers who are the primary care physicians treating one or
more patients enrolled in the patient participant group. Providers will be notified on a
patient by patient basis once the patient participant under their care has complete the risk
assessment process and the risk report is available from MeTree. Providers will be notified
via EPIC messaging or an alert that their patient has a MeTree clinical decision support
report available in the patient's electronic medical record. Whether the provider reviews the
risk assessment or changes patient care based on risk assessment recommendations is part of
standard clinical care and will be evaluated as a study outcome. Notification will also occur
when a patient declines genetic counseling, declines genetic testing, or has completed
genetic testing return of results. Eligibility for genetic counseling will be noted in the
medical record if a patient declines. If the patient undergoes genetic counseling, as is
standard of care, genetic counseling recommendations for testing, and testing outcomes will
also be documented in the medical record. When all patient participants in a clinic have
completed all study procedures, provider participants will be asked to complete a survey,
which will include questions about their demographics, practice, and experiences with the
study. After completing the survey, provider participants will have completed the study.