Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Women's Studies |
| Therapuetic Areas: | Other, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/6/2019 |
| Start Date: | March 1, 2018 |
| End Date: | December 2019 |
| Contact: | Deanna Brockman |
| Email: | deanna.brockman@mgh.harvard.edu |
| Phone: | 617-724-2725 |
The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in
Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of
whole genome sequencing as a potential first line genetic test for patients for which a
genetic diagnosis is suspected. This is an internally funded research study.
The investigators will enroll 500 participants who are being seen in one of the various
genetics clinics within the Partners HealthCare system for a suspected genetic disorder for
which standard-of-care genetic testing is ordered. At the time of their standard-of-care
genetic testing, an extra blood sample will be collected, and genome sequencing may be
performed. Within 3-4 months, patients learn if they received genome sequencing or not, and
any results are returned and explained. Investigators are also studying the experiences of
both participants and their providers to better understand how to implement genome sequencing
into clinical care.
Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of
whole genome sequencing as a potential first line genetic test for patients for which a
genetic diagnosis is suspected. This is an internally funded research study.
The investigators will enroll 500 participants who are being seen in one of the various
genetics clinics within the Partners HealthCare system for a suspected genetic disorder for
which standard-of-care genetic testing is ordered. At the time of their standard-of-care
genetic testing, an extra blood sample will be collected, and genome sequencing may be
performed. Within 3-4 months, patients learn if they received genome sequencing or not, and
any results are returned and explained. Investigators are also studying the experiences of
both participants and their providers to better understand how to implement genome sequencing
into clinical care.
The goal of this research protocol is to conduct a randomized clinical trial to assess the
benefits and risks of incorporating whole genome sequencing (WGS) as a first line diagnostic
test in various genetic and sub-specialty clinics within a large, tertiary medical center.
The investigators will enroll 500 participants within the Partners HealthCare system (e.g.
Massachusetts General Hospital, Massachusetts Eye and Ear, etc.). The study will be enrolling
from multiple genetics and sub-specialty clinics, including but not limited to: cardiology,
GI cancer genetics, medical genetics, ataxia, endocrine genetics. Participants are eligible
if their provider orders genetic testing for diagnosis of symptoms suspicious for a genetic
disorder. Participants must not have had a genetic workup in the past.
At the time of enrollment, a small blood sample will be obtained at the time of the
participant's blood draw for standard-of-care testing. All participants will be subject to
1:1 randomization, in which 250 will receive a WGS report, and 250 will be randomized to the
arm that receives standard of care testing only. Any WGS report that is generated will be
incorporated into the patient's electronic medical record.
For pediatric patients, the study team will attempt to collect blood samples from both
biological parents when possible for trio analysis (WGS performed on the proband and both
biological parents). The purpose of trio analysis is primarily for the purpose of
interpreting the proband/child's results. For non-pediatric patients, saliva samples may be
requested from living parents for confirmation purposes. No genetic testing reports will be
generated for parents. The exception to this is if a parent of a pediatric patient (part of
trio) opts to receive results from the ACMG 59 list.
The participants are blinded to the arm in which they are assigned until 3-4 months from the
time of consent. At that time, a study genetic counselor will call the participant to
disclose the randomization assignment. If the participant was randomized to receive a WGS
report, a plan will be made to review the WGS either by phone, video conferencing, or in
person. After reviewing the results, the research team will write a letter to the participant
summarizing the results and any relevant medical management recommendations. This letter will
also include a copy of their WGS report.
All participants (or their parents) will be surveyed at three points during their enrollment:
baseline (at time of consent), immediately post-disclosure, and 6 months post-disclosure. The
medical providers who offered the standard of care testing will also be surveyed.
benefits and risks of incorporating whole genome sequencing (WGS) as a first line diagnostic
test in various genetic and sub-specialty clinics within a large, tertiary medical center.
The investigators will enroll 500 participants within the Partners HealthCare system (e.g.
Massachusetts General Hospital, Massachusetts Eye and Ear, etc.). The study will be enrolling
from multiple genetics and sub-specialty clinics, including but not limited to: cardiology,
GI cancer genetics, medical genetics, ataxia, endocrine genetics. Participants are eligible
if their provider orders genetic testing for diagnosis of symptoms suspicious for a genetic
disorder. Participants must not have had a genetic workup in the past.
At the time of enrollment, a small blood sample will be obtained at the time of the
participant's blood draw for standard-of-care testing. All participants will be subject to
1:1 randomization, in which 250 will receive a WGS report, and 250 will be randomized to the
arm that receives standard of care testing only. Any WGS report that is generated will be
incorporated into the patient's electronic medical record.
For pediatric patients, the study team will attempt to collect blood samples from both
biological parents when possible for trio analysis (WGS performed on the proband and both
biological parents). The purpose of trio analysis is primarily for the purpose of
interpreting the proband/child's results. For non-pediatric patients, saliva samples may be
requested from living parents for confirmation purposes. No genetic testing reports will be
generated for parents. The exception to this is if a parent of a pediatric patient (part of
trio) opts to receive results from the ACMG 59 list.
The participants are blinded to the arm in which they are assigned until 3-4 months from the
time of consent. At that time, a study genetic counselor will call the participant to
disclose the randomization assignment. If the participant was randomized to receive a WGS
report, a plan will be made to review the WGS either by phone, video conferencing, or in
person. After reviewing the results, the research team will write a letter to the participant
summarizing the results and any relevant medical management recommendations. This letter will
also include a copy of their WGS report.
All participants (or their parents) will be surveyed at three points during their enrollment:
baseline (at time of consent), immediately post-disclosure, and 6 months post-disclosure. The
medical providers who offered the standard of care testing will also be surveyed.
Inclusion Criteria:
1. Participants of any gender over the age of 3 months.
2. Participants (ages 7+) must be proficient in English. If the participant is under the
age of 7 or is over the age of 7 and non-verbal, these criteria apply to their parent
who is providing consent.
3. Participant is being evaluated clinically at an Partners HealthCare genetics clinic,
and not had a prior genetic work up for their referral indication.
4. Have a suspected genetic disorder in which the genetic cause is unknown, as confirmed
by review of the subject's medical records.
5. Genetic testing has been ordered for the participant by their clinical genetics
provider as part of a diagnostic workup.
6. Willing and able to provide a blood sample. The amount of blood drawn from a patient
will be 2 teaspoons or less.
7. Ability to provide informed consent or assent to participate in this protocol.
Children who have not attained the legal age of consent must provide assent (those who
do not have the capacity to assent must not object to taking part), along with
permission from the child's parent(s) or guardian. Adults who are unable to consent
must be able to provide assent or must not object to taking part, along with
permission from their legal authorized representative (LAR).
Exclusion Criteria:
1. Participants who live outside of the United States.
2. Non-English-speaking participants.
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Principal Investigator: Sekar Kathiresan, MD, PHD
Phone: 617-724-2725
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