Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 97 of 157 for:    Idiopathic Dilated Cardiomyopathy

A Pilot Project Exploring the Impact of Whole Genome Sequencing in Healthcare

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01736566
Recruitment Status : Active, not recruiting
First Posted : November 29, 2012
Results First Posted : November 7, 2018
Last Update Posted : December 4, 2018
Sponsor:
Collaborators:
National Human Genome Research Institute (NHGRI)
Baylor College of Medicine
Duke University
Information provided by (Responsible Party):
Robert C. Green, MD, MPH, Brigham and Women's Hospital

Study Type Interventional
Study Design Allocation: Randomized;   Intervention Model: Parallel Assignment;   Masking: None (Open Label);   Primary Purpose: Health Services Research
Conditions Healthy Adults (Full Study and Extension Phase)
Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Interventions Other: Family History + Whole Genome Sequencing
Other: Family History Only
Enrollment 213
Recruitment Details Participant recruitment began in 2012 at Brigham and Women’s hospital by letter, email, phone and in person.
Pre-assignment Details  
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.

The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only. Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Period Title: Main Study
Started 51 50 50 52 10
Completed 50 50 49 51 6
Not Completed 1 0 1 1 4
Period Title: Long Term Follow-up
Started 42 0 49 0 1
Completed 0 0 0 0 0
Not Completed 42 0 49 0 1
Reason Not Completed
Still collecting data             42             0             49             0             1
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort Total
Hide Arm/Group Description

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

    • In the main study, participants are randomized between Experimental and Comparator. For the Extension cohort, all participants receive whole genome sequencing.
Total of all reporting groups
Overall Number of Baseline Participants 51 50 50 52 10 213
Hide Baseline Analysis Population Description
Randomized participants who provided information on the baseline survey (main study), or participants who attended disclosure sessions (extension cohort)
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 51 participants 50 participants 50 participants 52 participants 10 participants 213 participants
<=18 years
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
Between 18 and 65 years
49
  96.1%
47
  94.0%
32
  64.0%
36
  69.2%
10
 100.0%
174
  81.7%
>=65 years
2
   3.9%
3
   6.0%
18
  36.0%
16
  30.8%
0
   0.0%
39
  18.3%
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 51 participants 50 participants 50 participants 52 participants 10 participants 213 participants
55.2  (7.0) 54.6  (7.6) 55.9  (16.1) 55.9  (12.2) 51.4  (8.3) 55.4  (11.3)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 51 participants 50 participants 50 participants 52 participants 10 participants 213 participants
Female
29
  56.9%
30
  60.0%
24
  48.0%
19
  36.5%
7
  70.0%
109
  51.2%
Male
22
  43.1%
20
  40.0%
26
  52.0%
33
  63.5%
3
  30.0%
104
  48.8%
Race (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 51 participants 50 participants 50 participants 52 participants 10 participants 213 participants
American Indian or Alaska Native
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
Asian
3
   5.9%
0
   0.0%
1
   2.0%
1
   1.9%
0
   0.0%
5
   2.3%
Native Hawaiian or Other Pacific Islander
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
Black or African American
1
   2.0%
2
   4.0%
3
   6.0%
0
   0.0%
10
 100.0%
16
   7.5%
White
46
  90.2%
43
  86.0%
45
  90.0%
47
  90.4%
0
   0.0%
181
  85.0%
More than one race
0
   0.0%
2
   4.0%
0
   0.0%
1
   1.9%
0
   0.0%
3
   1.4%
Unknown or Not Reported
1
   2.0%
3
   6.0%
1
   2.0%
3
   5.8%
0
   0.0%
8
   3.8%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 51 participants 50 participants 50 participants 52 participants 10 participants 213 participants
51 50 50 52 10 213
1.Primary Outcome
Title Change in Attitudes and Trust
Hide Description Adapted measures (Hall, MA, et al. 2006) assessed participants' attitudes toward genetic information, trust of their physicians and the medical system regarding interpretation and use of genetic information. Higher scores on a 12-60 scale represent more positive attitudes and greater trust.
Time Frame Change at 6-weeks post-results disclosure relative to baseline, administered approx.12.5 months after baseline
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed the baseline survey and 6 week follow-up survey
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Standard of Care Only: Doctors and their patients receive a Family History report only

Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 44 48 46 6
Mean (Standard Deviation)
Unit of Measure: units on a scale
0.0  (5.3) 0.7  (4.5) 3.5  (5.1) 1.8  (3.5) 1.0  (6.3)
2.Primary Outcome
Title Change in Self Efficacy
Hide Description Assessed through a scale developed for the Multiplex Initiative (Kaphingst, K.A., et al. 2012). Higher scores on a 0-24 scale indicate greater confidence in participants' abilities to understand genetic information.
Time Frame Baseline and 6-months post-results disclosure (6 mos. follow-up administered approx. 17 months after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants randomized to the experimental Family History + Whole Genome Sequencing arm who completed both the baseline and the 6-month follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History + Whole Genome Sequencing - Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 49 47 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
0.3  (3.4) 0.5  (4.3) 3.1  (5.7)
3.Primary Outcome
Title Change in Preferences for WGS Information
Hide Description Through nine novel survey items, participants were asked about their preferences for the types of genetic testing results they would like to receive from their whole genome sequence. Scores on an 0-9 scale represent the change in the number of categories of types of genetic testing results out of 9 that participants wanted to learn about from Baseline to 6-weeks follow-up.
Time Frame Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed both the baseline and 6-week follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 48 42 47 44 6
Mean (Standard Deviation)
Unit of Measure: units on a scale
-.1  (1.5) 0.2  (2.1) 0  (2.0) .4  (2.3) 0.0  (1.9)
4.Primary Outcome
Title Change in Perceived Health
Hide Description A single-item measure assessed how participants perceived their own health on a 1-5 scale. Adapted from the SF-12 (DeSalvo KB, Qual Life Res, 2006). Higher scores indicate more positive perceptions of health at follow-up
Time Frame Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (6 mos. follow-up follow-up administered approx. 17 months after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed the item on patient surveys.
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Active Comparator, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Active Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 49 49 51 8
Mean (Standard Deviation)
Unit of Measure: units on a scale
Change at disclosure Number Analyzed 50 participants 49 participants 49 participants 51 participants 8 participants
-0.1  (0.6) 0  (0.6) 0  (0.6) -0.2  (0.7) 0.3  (0.5)
Change at 6 months post-disclosure Number Analyzed 49 participants 44 participants 47 participants 49 participants 7 participants
-0.1  (0.7) -0.1  (0.7) -0.1  (0.8) -0.3  (0.8) 0.1  (0.4)
5.Primary Outcome
Title Change in Shared Decision Making
Hide Description Changes in shared decision making were assessed through a single item adapted from the Control Preferences Scale, a measure designed to ascertain the degree of control an individual wants to assume when decisions are being made about medical treatment. Higher scores on a scale of 1-3 indicate preferences towards more equally shared decision making (Heisler et al 2003). Higher mean changes over time indicate a change in preference towards more equally shared decision making at follow-up.
Time Frame Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who were completed the item on both the baseline and 6-week follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator Arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Placebo Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 46 41 46 45 5
Mean (Standard Deviation)
Unit of Measure: units on a scale
0.1  (0.7) 0  (0.5) 0.2  (0.8) 0.1  (0.7) -0.2  (0.8)
6.Primary Outcome
Title Change in Intolerance of Uncertainty
Hide Description Changes in participants' tolerance for uncertainty were assessed through a short 12-item version of the Intolerance of Uncertainty Scale (Carleton, 2007). Total summed scale range is 12-60, with higher scores indicating increased negative feelings about uncertainty from baseline to follow-up.
Time Frame Baseline and 6-months post-disclosure (6 mos. follow-up administered approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed both the baseline and 6-month follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 49 44 47 49 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
-0.5  (6.3) 0.3  (6.6) -1.3  (5.8) 0  (7.4) 4.9  (14.4)
7.Primary Outcome
Title Change in General Anxiety and Depression
Hide Description The Hospital Anxiety and Depression Scale (HADS) scale was administered through a survey. This is a validated scale designed to assess the participants' level of depression and anxiety through Likert-type questions. Total ranges for each summed subscale, anxiety and depression, is 0-21. Any participant scoring >14 on the anxiety subscale or >16 on the depression subscale were contacted by study staff for evaluation. Higher scores indicate increased anxiety or depression from baseline to follow-up.
Time Frame Baseline, at the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), 6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos and 6 mos follow-up approx 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed the baseline survey and follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 49 49 51 8
Mean (Standard Deviation)
Unit of Measure: units on a scale
Change in Anxiety at disclosure Number Analyzed 50 participants 49 participants 49 participants 51 participants 8 participants
0.1  (2.3) -.2  (2.8) -.4  (1.9) -.3  (2.8) -0.5  (1.5)
Change in Anxiety at 6 Weeks Number Analyzed 50 participants 44 participants 48 participants 46 participants 6 participants
-1.4  (3.2) -.8  (2.3) -1.7  (2.6) -1.0  (2.4) -1.5  (1.5)
Change in Anxiety at 6 Months Number Analyzed 49 participants 44 participants 47 participants 49 participants 7 participants
-.2  (2.6) -.1  (2.6) -.2  (2.4) -.4  (2.4) -0.9  (3.0)
Change in Depression at disclosure Number Analyzed 50 participants 49 participants 49 participants 51 participants 8 participants
0  (2.1) 0.7  (2.6) -0.1  (1.6) 0  (2.0) -0.3  (2.8)
Change in Depression at 6 Weeks Number Analyzed 50 participants 44 participants 48 participants 46 participants 6 participants
-.3  (2.1) 0.4  (2.7) -.8  (1.7) -.2  (1.8) -1.0  (2.8)
Change in Depression at 6 Months Number Analyzed 49 participants 44 participants 47 participants 49 participants 7 participants
-.1  (1.9) 0.5  (2.1) -.1  (1.9) 0  (1.8) 0.9  (3.8)
8.Primary Outcome
Title Change in Health Behaviors
Hide Description Novel items that asked whether participants changed vitamin use, supplement use, medication use, diet, exercise, or "other" health behaviors. Counts and percentages represent participants who reported any health behavior changes.
Time Frame 6-weeks post-disclosure and 6-months post-disclosure (6 wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who attended disclosure sessions and responded to post-disclosure surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Placebo Comparator: Family History Only: Doctors and their patients receive a Family History report only

Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 44 48 49 7
Measure Type: Count of Participants
Unit of Measure: Participants
6 Weeks Post-Disclosure Number Analyzed 50 participants 43 participants 48 participants 46 participants 6 participants
24
  48.0%
16
  37.2%
17
  35.4%
15
  32.6%
4
  66.7%
6 Months Post-Disclosure Number Analyzed 49 participants 44 participants 47 participants 49 participants 7 participants
20
  40.8%
13
  29.5%
26
  55.3%
20
  40.8%
3
  42.9%
9.Primary Outcome
Title Information Sharing
Hide Description Sharing of information was assessed by asking patients if they intended to share results with others (at the end of the disclosure visit) and if they had shared their results with others (6 months after disclosure) adapted from the Health Information National Trends Survey (HINTS).
Time Frame At the disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline) and 6-months post-disclosure (approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who answered information-sharing questions on the post-disclosure or 6-month follow-up questionnaire
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 46 47 43 45 7
Measure Type: Count of Participants
Unit of Measure: Participants
Plans to share at disclosure Number Analyzed 44 participants 47 participants 43 participants 41 participants 7 participants
43
  97.7%
39
  83.0%
42
  97.7%
30
  73.2%
6
  85.7%
Shared, per 6 month survey Number Analyzed 46 participants 39 participants 39 participants 45 participants 5 participants
41
  89.1%
27
  69.2%
38
  97.4%
28
  62.2%
4
  80.0%
10.Primary Outcome
Title Changes in Genomic Literacy
Hide Description Changes in participants' genomic literacy were measured with an 11-item measure adapted from the ClinSeq Study (Kaphingst K.A. et al. 2012) administered at baseline and 6 months post-disclosure. Items are marked as correct (1) or incorrect (0) and summed for a total scale range of 0 to 11, with higher scores indicating higher genomic literacy.
Time Frame Assessing Genomic Literacy at baseline and 6-months post-disclosure (approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who completed the genetic literacy items in the baseline and 6-month follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Placebo Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 45 47 49 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
-.4  (1.8) -.5  (2.3) -.6  (2.1) -.2  (1.2) 0.0  (1.6)
11.Primary Outcome
Title Changes in Health Care Utilization
Hide Description Participants' health care utilization was assessed through a combination of medical record reviews and novel and adapted measures from the Behavioral Risk Factor Surveillance System (BRFSS). Changes are assessed by comparing the number of services and procedures received in 6 months following disclosure against the number of services and procedures received in the 6 months prior to disclosure.
Time Frame 6 months prior to disclosure and 6-months post-disclosure (approx. 17 mos. after baseline) and 5-years post-disclosure
Hide Outcome Measure Data
Hide Analysis Population Description
All randomized participants who received disclosure
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 50 49 51 10
Mean (Standard Deviation)
Unit of Measure: units on a scale
Visits Number Analyzed 50 participants 50 participants 49 participants 51 participants 10 participants
3.9  (7.9) 2.3  (6.8) 1.7  (7.8) 1.7  (7.1) 0.6  (3.7)
Labs Number Analyzed 50 participants 50 participants 49 participants 51 participants 5 participants
1.4  (8.9) -0.3  (7.8) 1.5  (10.6) 1.5  (7.4) 0.5  (1.2)
Imaging tests Number Analyzed 50 participants 50 participants 49 participants 51 participants 10 participants
0  (2.1) -.1  (2.6) 0.9  (2.1) 1.0  (1.7) 0.0  (0.0)
Cardiology tests Number Analyzed 50 participants 50 participants 49 participants 51 participants 6 participants
0.2  (1.0) 0.2  (0.8) 0.8  (2.7) 0.9  (3.0) 0.3  (0.6)
Hospitalizations Number Analyzed 50 participants 50 participants 49 participants 51 participants 10 participants
0  (0.1) 0  (0.2) 0.1  (0.6) 0.1  (0.7) 0.0  (0.0)
12.Primary Outcome
Title Change in Perceived Utility
Hide Description A novel survey item asked participants to rate the usefulness of whole genome sequencing results for managing health on a 1-10 scale. Scores at 6 months were compared to scores at baseline.
Time Frame At baseline and 6-months post-disclosure (approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who received whole genome sequencing and completed the survey items at baseline and at 6 months
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History + Whole Genome Sequencing - Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 48 45 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
-.6  (2.5) -.9  (3.0) -1.0  (2.3)
13.Secondary Outcome
Title Psychological Impact
Hide Description Psychological impact was assessed by a modified version of the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Higher scores indicated more distress related to study results.
Time Frame 6-weeks post-disclosure and 6-months post-disclosure (6wks. follow-up administered approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who answered the psychological impact items on the 6 week or 6 month follow-up questionnaires
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 46 41 45 44 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
6 Weeks Post-Disclosure Number Analyzed 46 participants 37 participants 45 participants 43 participants 6 participants
13.2  (3.8) 15.1  (3.9) 14.2  (4.8) 14.5  (4.3) 11.4  (4.2)
6 Months Post-Disclosure Number Analyzed 42 participants 41 participants 45 participants 44 participants 7 participants
14.9  (3.2) 15.2  (3.7) 16.0  (5.4) 16.5  (5.6) 14.1  (3.5)
14.Secondary Outcome
Title Decisional Regret
Hide Description Participants' satisfaction with their decision to participate in the MedSeq Project through a 5-item validated scale (Brehaut 2003). Average score computed after reversing scores of 2 negatively phrased items and converting score to range from 0-100 by subtracting 1 and multiplying by 25. Higher scores indicate greater regret.
Time Frame At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who answered the decisional regret items on the post-disclosure, 6 week follow-up, or 6 month follow-up surveys
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 49 49 51 9
Mean (Standard Deviation)
Unit of Measure: units on a scale
Post-Disclosure Number Analyzed 50 participants 49 participants 49 participants 51 participants 9 participants
8.9  (16.7) 12.9  (14.0) 6.2  (9.6) 15.8  (22.8) 6.1  (10.8)
6 Weeks Post-Disclosure Number Analyzed 50 participants 44 participants 48 participants 46 participants 7 participants
9.8  (16.6) 17.2  (15.5) 5.8  (9.7) 15.0  (20.6) 6.4  (11.1)
6 Months Post-Disclosure Number Analyzed 50 participants 45 participants 47 participants 49 participants 6 participants
11.5  (18.2) 19.9  (19.3) 7.9  (11.2) 11.3  (15.9) 4.2  (10.2)
15.Secondary Outcome
Title Understanding
Hide Description A novel item assessed participants' subjective understanding of their study results on a 1-5 scale, where higher scores indicate greater subjective understanding.
Time Frame At post-disclosure visit (about 1 hour after results disclosure, avg. 11 mos. after baseline), at 6-weeks post-disclosure, and at 6-months post-disclosure (6 wks follow-up approx. 12.5 mos. and 6 mos. follow-up approx. 17 mos. after baseline)
Hide Outcome Measure Data
Hide Analysis Population Description
Participants who answered the understanding item on the post-disclosure, 6-week follow-up, or 6-month follow-up surveys.
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 50 44 49 49 7
Mean (Standard Deviation)
Unit of Measure: units on a scale
Post-Disclosure Number Analyzed 49 participants 32 participants 49 participants 35 participants 7 participants
4.2  (0.7) 4.5  (0.7) 4.0  (0.7) 4.2  (0.8) 3.9  (0.7)
6 Weeks Post-Disclosure Number Analyzed 50 participants 43 participants 48 participants 46 participants 7 participants
4.2  (0.8) 4.2  (0.9) 4.1  (0.7) 4.2  (0.9) 4.0  (0.6)
6 Months Post-Disclosure Number Analyzed 50 participants 44 participants 47 participants 49 participants 7 participants
4.0  (0.7) 4.3  (0.7) 4.0  (0.8) 4.2  (0.7) 4.0  (0.6)
16.Secondary Outcome
Title Expectations
Hide Description Novel survey items asked participants about whether or not their genetic test results would be useful for specific reasons. Response options were “no,” “probably not”, “probably yes,” and “yes.” Responses of “probably yes” and “yes” were combined to simplify presentation of data.
Time Frame Baseline
Hide Outcome Measure Data
Hide Analysis Population Description
Randomized participants who completed the baseline survey.
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing - Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description:

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which containd genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Standard of Care + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.
Overall Number of Participants Analyzed 51 49 50 52 10
Measure Type: Count of Participants
Unit of Measure: Participants
Identify disease risk Number Analyzed 51 participants 48 participants 48 participants 52 participants 10 participants
40
  78.4%
36
  75.0%
41
  85.4%
42
  80.8%
8
  80.0%
Influence treatment Number Analyzed 51 participants 49 participants 50 participants 52 participants 10 participants
43
  84.3%
44
  89.8%
41
  82.0%
44
  84.6%
10
 100.0%
Influence medical care Number Analyzed 51 participants 49 participants 48 participants 52 participants 10 participants
44
  86.3%
46
  93.9%
40
  83.3%
44
  84.6%
9
  90.0%
Influence medications Number Analyzed 50 participants 49 participants 50 participants 52 participants 10 participants
35
  70.0%
41
  83.7%
36
  72.0%
35
  67.3%
10
 100.0%
Influence end-of-life planning Number Analyzed 51 participants 49 participants 49 participants 52 participants 10 participants
27
  52.9%
19
  38.8%
25
  51.0%
22
  42.3%
7
  70.0%
Influence reproductive decisions Number Analyzed 51 participants 48 participants 50 participants 52 participants 10 participants
18
  35.3%
8
  16.7%
24
  48.0%
16
  30.8%
4
  40.0%
Time Frame Baseline to 6 months
Adverse Event Reporting Description

Adverse event definitions are consistant with clinicatrials.gov

Adverse events were collected and reported to the IRB

 
Arm/Group Title Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Hide Arm/Group Description

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only.

Doctors and their patients receive a Genome Report and an Annotated Family History Report.

Main Study Experimental: Family History + Whole Genome Sequencing (Genome Report): Doctors and their patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

  1. The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.
  2. The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

Extension Phase: Experimental: Family History + Whole Genome Sequencing (Genome Report)

*In the main study participants are randomized between Experimental and Comparator arms, in the Extension phase of the study all participants are in the Experimental Arm.

Doctors and their patients receive an Annotated Family History Report only.

Active Comparator: Family History Only: Doctors and their patients receive a Family History report only

Family History + Whole Genome Sequencing (Genome Report): Doctors and their African American patients receive a Genome Report and a Family History Report.

There are two sections of the Genome Report:

The General Genome Report, which includes highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations.

The Cardiac Risk Supplement, which contains genetic information found in the genome regarding cardiac diseases or a risk of cardiovascular diseases that can help with the care of the patient.

All-Cause Mortality
Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/51 (0.00%)      0/50 (0.00%)      3/50 (6.00%)      1/52 (1.92%)      0/10 (0.00%)    
Show Serious Adverse Events Hide Serious Adverse Events
Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   0/51 (0.00%)      0/50 (0.00%)      3/50 (6.00%)      1/52 (1.92%)      0/10 (0.00%)    
Cardiac disorders           
Serious * [1]  0/51 (0.00%)  0 0/50 (0.00%)  0 3/50 (6.00%)  3 1/52 (1.92%)  1 0/10 (0.00%)  0
*
Indicates events were collected by non-systematic assessment
[1]
Deceased- Complications of Cardiomyopathy
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Family History + Whole Genome Sequencing: Primary Care Family History Only: Primary Care Family History + Whole Genome Sequencing: Cardiology Family History Only: Cardiology Extension Cohort
Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   0/51 (0.00%)      3/50 (6.00%)      0/50 (0.00%)      0/52 (0.00%)      0/10 (0.00%)    
Psychiatric disorders           
Other * [1]  0/51 (0.00%)  0 3/50 (6.00%)  3 0/50 (0.00%)  0 0/52 (0.00%)  0 0/10 (0.00%)  0
*
Indicates events were collected by non-systematic assessment
[1]
Elevated HADS scale anxiety score
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Carrie Blout, Genetic Counselor Project Manager
Organization: Brigham and Women's Hospital
Phone: 617-264-5837
EMail: carrie.blout@gmail.com
Other Publications:
Green RC, Rehm H, Kohane I. Clinical Genome Sequencing. Genomic and Personalized Medicine 2nd Edition: 102- 122, 2012.
Layout table for additonal information
Responsible Party: Robert C. Green, MD, MPH, Brigham and Women's Hospital
ClinicalTrials.gov Identifier: NCT01736566     History of Changes
Other Study ID Numbers: MedSeq™
U01HG006500 ( U.S. NIH Grant/Contract )
First Submitted: August 17, 2012
First Posted: November 29, 2012
Results First Submitted: July 27, 2018
Results First Posted: November 7, 2018
Last Update Posted: December 4, 2018