Healthy Adults (Full Study and Extension Phase), Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy
Conditions
Keywords
Primary Care, Cardiology, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Whole Genome Sequencing
Brief summary
The MedSeq™ Project seeks to explore the impact of incorporating information from a patient's whole genome sequence into the practice of clinical medicine. In the extension phase of MedSeq we are attempting increase our participant diversity by increasing targeted enrollment of African/African American patient participants.
Detailed description
Whole genome sequencing (WGS) and whole exome sequencing (WES) services are currently available to and are being utilized by physicians and their patients in both research and clinical settings. The widespread availability and use of WGS and WES in the practice of clinical medicine is imminent. In the very near future, sequencing of individual genomes will be inexpensive and ubiquitous, and patients will be looking to the medical establishment for interpretations, insight and advice to improve their health. Developing standards and procedures for the use of WGS information in clinical medicine is an urgent need, but there are numerous obstacles related to integrity and storage of WGS data, interpretation and responsible clinical integration. MedSeq™ seeks to develop a process to integrate WGS into clinical medicine and explore the impact of doing so. We believe that WGS will be used in many ways, including two distinct and complementary situations. In generally healthy patients, physicians will use the results of WGS to derive insight into future health risks and inform prevention and surveillance efforts, a category we refer to as General Genomic Medicine. In patients presenting with a family history or symptoms of a disease, physicians will use the results of WGS to interrogate particular sets of genes known to be associated with the disease in question, a category we refer to as Disease-Specific Genomic Medicine. Beginning in fall 2012, we will enroll 10 primary care physicians and 100 of their healthy middle-aged patients to evaluate the use of General Genomic Medicine, and 10 cardiologists and 100 of their patients presenting with hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) to evaluate the use of Disease-Specific Genomic Medicine. We will randomize physicians and their patients within each of the above models to receive clinically meaningful information derived from WGS versus current standard of care without the use of WGS. MedSeq™ is comprised of three distinct but highly collaborative projects. Project 1 will enroll physicians and patients into the protocol, educate the physicians on basic genomic principles and safely monitor the use of genomic information in clinical practice. Project 2 will use a WGS analysis/interpretation pipeline to generate a genome report on each patient randomized to receive WGS in this protocol. Project 3 will examine preferences and motivations of physicians and patients enrolled, evaluate the flow and utilization of genomic information within the clinical interactions, and assess understanding, behavior, medical consequences and healthcare costs associated with the use of WGS in these models of medical practice. In an extension phase of the study, we will 1) recruit approximately 10-15 patient-participants who self-identify as African or African American, whose physicians deem to be healthy. All will be placed in the whole genome-sequencing arm of the study. They will undergo the same activities as traditional MedSeq participants except for randomization. 2) We will conduct a targeted phenotype assessment on MedSeq Project patient-participants who are identified to have a monogenic finding. We plan to perform additional analysis by reviewing their medical records and looking specifically with their variant in mind to see if features associated with the variants were known prior to the study or were identified by further testing or by their physical during the course of the study. This initiative will significantly accelerate the use of genomics in clinical medicine by creating and safely testing novel methods for integrating information from WGS into physicians' care of patients.
Interventions
OTHERFamily History + Whole Genome Sequencing
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 include highly penetrant disease mutations, carrier status for recessive disease, and pharmacogenetic associations. 2. The Cardiac Risk Supplement, which contain 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 \*In the main study participants are randomized to either the Experimental or Other Arm, in the Extension phase of the study all participants are in the Experimental Arm.
OTHERFamily History Only
Doctors and their patients receive a Family History report.
Sponsors
National Human Genome Research Institute (NHGRI)
Baylor College of Medicine
Duke University
Brigham and Women's Hospital
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 90 Years
Healthy volunteers
Yes
Inclusion criteria
Note for Age Eligibility: * Cardiology patients 18 Years to 90 Years OR * Primary Care Patients 40 Years to 65 Years (Adult, Senior) Inclusion Criteria: Primary Care * Generally healthy (as defined by the primary care provider) adult patients at Brigham and Women's Hospital ages 40-65. All patients must be fluent in English. Cardiology * Patients in the Partners Healthcare System who are 18 years or older with a diagnosis of hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM) and a family history of HCM or DCM who previously had or who are candidates for targeted HCM or DCM genetic testing through routine clinical practice within Partners. All patients must be fluent in English.
Exclusion criteria
Primary Care * Patients who do not meet the above criteria. Patients with cardiac disease or a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \> 11 administered at the baseline study visit.) Cardiology * Patients who do not meet the above criteria. Patients with a progressive debilitating illness. Patients who are pregnant or patients whose spouses/significant others are pregnant. Patients with untreated clinical anxiety or depression (as measured by a Hospital Anxiety and Depression Scale (HADS) score \> 11 administered at the baseline study visit.) Extension Phase - Additional Inclusion Criteria Part 1: * Above inclusion and
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in Perceived Utility | At baseline and 6-months post-disclosure (approx. 17 mos. after baseline) | 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. |
| Change in Health Behaviors | 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) | 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. |
| Information Sharing | 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) | 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). |
| Changes in Genomic Literacy | Assessing Genomic Literacy at baseline and 6-months post-disclosure (approx. 17 mos. after baseline) | 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. |
| Changes in Health Care Utilization | 6 months prior to disclosure and 6-months post-disclosure (approx. 17 mos. after baseline) and 5-years post-disclosure | 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. |
| Change in Attitudes and Trust | Change at 6-weeks post-results disclosure relative to baseline, administered approx.12.5 months after baseline | 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. |
| Change in Self Efficacy | Baseline and 6-months post-results disclosure (6 mos. follow-up administered approx. 17 months after baseline) | 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. |
| Change in Preferences for WGS Information | Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline) | 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. |
| Change in Perceived Health | 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) | 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 |
| Change in Shared Decision Making | Baseline and 6-weeks post-disclosure (6 wks follow-up administered approx. 12.5 mos. after baseline) | 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. |
| Change in Intolerance of Uncertainty | Baseline and 6-months post-disclosure (6 mos. follow-up administered approx. 17 mos. after baseline) | 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. |
| Change in General Anxiety and Depression | 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) | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Decisional Regret | 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) | 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. |
| Understanding | 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) | A novel item assessed participants' subjective understanding of their study results on a 1-5 scale, where higher scores indicate greater subjective understanding. |
| Expectations | Baseline | 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. |
| Psychological Impact | 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) | 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. |
Countries
United States
Participant flow
Recruitment details
Participant recruitment began in 2012 at Brigham and Women's hospital by letter, email, phone and in person.
Participants by arm
| Arm | Count |
|---|---|
| Family History + Whole Genome Sequencing: Primary Care 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. | 51 |
| Family History Only: Primary Care 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 | 50 |
| Family History + Whole Genome Sequencing - Cardiology 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. | 50 |
| Family History Only: Cardiology 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 | 52 |
| Extension Cohort 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. | 10 |
| Total | 213 |
Baseline characteristics
| Characteristic | Family History Only: Primary Care | Family History + Whole Genome Sequencing - Cardiology | Family History Only: Cardiology | Extension Cohort | Family History + Whole Genome Sequencing: Primary Care | Total |
|---|---|---|---|---|---|---|
| Age, Categorical <=18 years | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical >=65 years | 3 Participants | 18 Participants | 16 Participants | 0 Participants | 2 Participants | 39 Participants |
| Age, Categorical Between 18 and 65 years | 47 Participants | 32 Participants | 36 Participants | 10 Participants | 49 Participants | 174 Participants |
| Age, Continuous | 54.6 years STANDARD_DEVIATION 7.6 | 55.9 years STANDARD_DEVIATION 16.1 | 55.9 years STANDARD_DEVIATION 12.2 | 51.4 years STANDARD_DEVIATION 8.3 | 55.2 years STANDARD_DEVIATION 7 | 55.4 years STANDARD_DEVIATION 11.3 |
| Race (NIH/OMB) American Indian or Alaska Native | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Asian | 0 Participants | 1 Participants | 1 Participants | 0 Participants | 3 Participants | 5 Participants |
| Race (NIH/OMB) Black or African American | 2 Participants | 3 Participants | 0 Participants | 10 Participants | 1 Participants | 16 Participants |
| Race (NIH/OMB) More than one race | 2 Participants | 0 Participants | 1 Participants | 0 Participants | 0 Participants | 3 Participants |
| Race (NIH/OMB) Native Hawaiian or Other Pacific Islander | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants | 0 Participants |
| Race (NIH/OMB) Unknown or Not Reported | 3 Participants | 1 Participants | 3 Participants | 0 Participants | 1 Participants | 8 Participants |
| Race (NIH/OMB) White | 43 Participants | 45 Participants | 47 Participants | 0 Participants | 46 Participants | 181 Participants |
| Region of Enrollment United States | 50 participants | 50 participants | 52 participants | 10 participants | 51 participants | 213 participants |
| Sex: Female, Male Female | 30 Participants | 24 Participants | 19 Participants | 7 Participants | 29 Participants | 109 Participants |
| Sex: Female, Male Male | 20 Participants | 26 Participants | 33 Participants | 3 Participants | 22 Participants | 104 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk | EG002 affected / at risk | EG003 affected / at risk | EG004 affected / at risk |
|---|---|---|---|---|---|
| deaths Total, all-cause mortality | 0 / 51 | 0 / 50 | 3 / 50 | 1 / 52 | 0 / 10 |
| other Total, other adverse events | 0 / 51 | 3 / 50 | 0 / 50 | 0 / 52 | 0 / 10 |
| serious Total, serious adverse events | 0 / 51 | 0 / 50 | 3 / 50 | 1 / 52 | 0 / 10 |
Outcome results
Primary
Change in Attitudes and Trust
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
Population: Participants who completed the baseline survey and 6 week follow-up survey
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Attitudes and Trust | 0.0 units on a scale | Standard Deviation 5.3 |
| Family History Only: Primary Care | Change in Attitudes and Trust | 0.7 units on a scale | Standard Deviation 4.5 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Attitudes and Trust | 3.5 units on a scale | Standard Deviation 5.1 |
| Family History Only: Cardiology | Change in Attitudes and Trust | 1.8 units on a scale | Standard Deviation 3.5 |
| Extension Cohort | Change in Attitudes and Trust | 1.0 units on a scale | Standard Deviation 6.3 |
Primary
Change in General Anxiety and Depression
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)
Population: Participants who completed the baseline survey and follow-up surveys
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at disclosure | 0.1 units on a scale | Standard Deviation 2.3 |
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at 6 Weeks | -1.4 units on a scale | Standard Deviation 3.2 |
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at 6 Months | -.2 units on a scale | Standard Deviation 2.6 |
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Depression at disclosure | 0 units on a scale | Standard Deviation 2.1 |
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Depression at 6 Weeks | -.3 units on a scale | Standard Deviation 2.1 |
| Family History + Whole Genome Sequencing: Primary Care | Change in General Anxiety and Depression | Change in Depression at 6 Months | -.1 units on a scale | Standard Deviation 1.9 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Depression at 6 Weeks | 0.4 units on a scale | Standard Deviation 2.7 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Depression at 6 Months | 0.5 units on a scale | Standard Deviation 2.1 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at disclosure | -.2 units on a scale | Standard Deviation 2.8 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at 6 Months | -.1 units on a scale | Standard Deviation 2.6 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Depression at disclosure | 0.7 units on a scale | Standard Deviation 2.6 |
| Family History Only: Primary Care | Change in General Anxiety and Depression | Change in Anxiety at 6 Weeks | -.8 units on a scale | Standard Deviation 2.3 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Depression at disclosure | -0.1 units on a scale | Standard Deviation 1.6 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Depression at 6 Weeks | -.8 units on a scale | Standard Deviation 1.7 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Anxiety at disclosure | -.4 units on a scale | Standard Deviation 1.9 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Anxiety at 6 Months | -.2 units on a scale | Standard Deviation 2.4 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Anxiety at 6 Weeks | -1.7 units on a scale | Standard Deviation 2.6 |
| Family History + Whole Genome Sequencing - Cardiology | Change in General Anxiety and Depression | Change in Depression at 6 Months | -.1 units on a scale | Standard Deviation 1.9 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Depression at disclosure | 0 units on a scale | Standard Deviation 2 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Anxiety at 6 Weeks | -1.0 units on a scale | Standard Deviation 2.4 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Anxiety at 6 Months | -.4 units on a scale | Standard Deviation 2.4 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Depression at 6 Months | 0 units on a scale | Standard Deviation 1.8 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Depression at 6 Weeks | -.2 units on a scale | Standard Deviation 1.8 |
| Family History Only: Cardiology | Change in General Anxiety and Depression | Change in Anxiety at disclosure | -.3 units on a scale | Standard Deviation 2.8 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Depression at 6 Weeks | -1.0 units on a scale | Standard Deviation 2.8 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Anxiety at 6 Months | -0.9 units on a scale | Standard Deviation 3 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Anxiety at 6 Weeks | -1.5 units on a scale | Standard Deviation 1.5 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Depression at 6 Months | 0.9 units on a scale | Standard Deviation 3.8 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Depression at disclosure | -0.3 units on a scale | Standard Deviation 2.8 |
| Extension Cohort | Change in General Anxiety and Depression | Change in Anxiety at disclosure | -0.5 units on a scale | Standard Deviation 1.5 |
Primary
Change in Health Behaviors
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)
Population: Participants who attended disclosure sessions and responded to post-disclosure surveys
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Health Behaviors | 6 Weeks Post-Disclosure | 24 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Change in Health Behaviors | 6 Months Post-Disclosure | 20 Participants |
| Family History Only: Primary Care | Change in Health Behaviors | 6 Weeks Post-Disclosure | 16 Participants |
| Family History Only: Primary Care | Change in Health Behaviors | 6 Months Post-Disclosure | 13 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Change in Health Behaviors | 6 Weeks Post-Disclosure | 17 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Change in Health Behaviors | 6 Months Post-Disclosure | 26 Participants |
| Family History Only: Cardiology | Change in Health Behaviors | 6 Months Post-Disclosure | 20 Participants |
| Family History Only: Cardiology | Change in Health Behaviors | 6 Weeks Post-Disclosure | 15 Participants |
| Extension Cohort | Change in Health Behaviors | 6 Weeks Post-Disclosure | 4 Participants |
| Extension Cohort | Change in Health Behaviors | 6 Months Post-Disclosure | 3 Participants |
Primary
Change in Intolerance of Uncertainty
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)
Population: Participants who completed both the baseline and 6-month follow-up surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Intolerance of Uncertainty | -0.5 units on a scale | Standard Deviation 6.3 |
| Family History Only: Primary Care | Change in Intolerance of Uncertainty | 0.3 units on a scale | Standard Deviation 6.6 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Intolerance of Uncertainty | -1.3 units on a scale | Standard Deviation 5.8 |
| Family History Only: Cardiology | Change in Intolerance of Uncertainty | 0 units on a scale | Standard Deviation 7.4 |
| Extension Cohort | Change in Intolerance of Uncertainty | 4.9 units on a scale | Standard Deviation 14.4 |
Primary
Change in Perceived Health
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)
Population: Participants who completed the item on patient surveys.
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Perceived Health | Change at disclosure | -0.1 units on a scale | Standard Deviation 0.6 |
| Family History + Whole Genome Sequencing: Primary Care | Change in Perceived Health | Change at 6 months post-disclosure | -0.1 units on a scale | Standard Deviation 0.7 |
| Family History Only: Primary Care | Change in Perceived Health | Change at disclosure | 0 units on a scale | Standard Deviation 0.6 |
| Family History Only: Primary Care | Change in Perceived Health | Change at 6 months post-disclosure | -0.1 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Perceived Health | Change at disclosure | 0 units on a scale | Standard Deviation 0.6 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Perceived Health | Change at 6 months post-disclosure | -0.1 units on a scale | Standard Deviation 0.8 |
| Family History Only: Cardiology | Change in Perceived Health | Change at 6 months post-disclosure | -0.3 units on a scale | Standard Deviation 0.8 |
| Family History Only: Cardiology | Change in Perceived Health | Change at disclosure | -0.2 units on a scale | Standard Deviation 0.7 |
| Extension Cohort | Change in Perceived Health | Change at disclosure | 0.3 units on a scale | Standard Deviation 0.5 |
| Extension Cohort | Change in Perceived Health | Change at 6 months post-disclosure | 0.1 units on a scale | Standard Deviation 0.4 |
Primary
Change in Perceived Utility
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)
Population: Participants who received whole genome sequencing and completed the survey items at baseline and at 6 months
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Perceived Utility | -.6 units on a scale | Standard Deviation 2.5 |
| Family History Only: Primary Care | Change in Perceived Utility | -.9 units on a scale | Standard Deviation 3 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Perceived Utility | -1.0 units on a scale | Standard Deviation 2.3 |
Primary
Change in Preferences for WGS Information
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)
Population: Participants who completed both the baseline and 6-week follow-up surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Preferences for WGS Information | -.1 units on a scale | Standard Deviation 1.5 |
| Family History Only: Primary Care | Change in Preferences for WGS Information | 0.2 units on a scale | Standard Deviation 2.1 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Preferences for WGS Information | 0 units on a scale | Standard Deviation 2 |
| Family History Only: Cardiology | Change in Preferences for WGS Information | .4 units on a scale | Standard Deviation 2.3 |
| Extension Cohort | Change in Preferences for WGS Information | 0.0 units on a scale | Standard Deviation 1.9 |
Primary
Change in Self Efficacy
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)
Population: Participants randomized to the experimental Family History + Whole Genome Sequencing arm who completed both the baseline and the 6-month follow-up surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Self Efficacy | 0.3 units on a scale | Standard Deviation 3.4 |
| Family History Only: Primary Care | Change in Self Efficacy | 0.5 units on a scale | Standard Deviation 4.3 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Self Efficacy | 3.1 units on a scale | Standard Deviation 5.7 |
Primary
Change in Shared Decision Making
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)
Population: Participants who were completed the item on both the baseline and 6-week follow-up surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Change in Shared Decision Making | 0.1 units on a scale | Standard Deviation 0.7 |
| Family History Only: Primary Care | Change in Shared Decision Making | 0 units on a scale | Standard Deviation 0.5 |
| Family History + Whole Genome Sequencing - Cardiology | Change in Shared Decision Making | 0.2 units on a scale | Standard Deviation 0.8 |
| Family History Only: Cardiology | Change in Shared Decision Making | 0.1 units on a scale | Standard Deviation 0.7 |
| Extension Cohort | Change in Shared Decision Making | -0.2 units on a scale | Standard Deviation 0.8 |
Primary
Changes in Genomic Literacy
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)
Population: Participants who completed the genetic literacy items in the baseline and 6-month follow-up surveys
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Changes in Genomic Literacy | -.4 units on a scale | Standard Deviation 1.8 |
| Family History Only: Primary Care | Changes in Genomic Literacy | -.5 units on a scale | Standard Deviation 2.3 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Genomic Literacy | -.6 units on a scale | Standard Deviation 2.1 |
| Family History Only: Cardiology | Changes in Genomic Literacy | -.2 units on a scale | Standard Deviation 1.2 |
| Extension Cohort | Changes in Genomic Literacy | 0.0 units on a scale | Standard Deviation 1.6 |
Primary
Changes in Health Care Utilization
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
Population: All randomized participants who received disclosure
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Changes in Health Care Utilization | Cardiology tests | 0.2 units on a scale | Standard Deviation 1 |
| Family History + Whole Genome Sequencing: Primary Care | Changes in Health Care Utilization | Visits | 3.9 units on a scale | Standard Deviation 7.9 |
| Family History + Whole Genome Sequencing: Primary Care | Changes in Health Care Utilization | Hospitalizations | 0 units on a scale | Standard Deviation 0.1 |
| Family History + Whole Genome Sequencing: Primary Care | Changes in Health Care Utilization | Labs | 1.4 units on a scale | Standard Deviation 8.9 |
| Family History + Whole Genome Sequencing: Primary Care | Changes in Health Care Utilization | Imaging tests | 0 units on a scale | Standard Deviation 2.1 |
| Family History Only: Primary Care | Changes in Health Care Utilization | Cardiology tests | 0.2 units on a scale | Standard Deviation 0.8 |
| Family History Only: Primary Care | Changes in Health Care Utilization | Imaging tests | -.1 units on a scale | Standard Deviation 2.6 |
| Family History Only: Primary Care | Changes in Health Care Utilization | Labs | -0.3 units on a scale | Standard Deviation 7.8 |
| Family History Only: Primary Care | Changes in Health Care Utilization | Hospitalizations | 0 units on a scale | Standard Deviation 0.2 |
| Family History Only: Primary Care | Changes in Health Care Utilization | Visits | 2.3 units on a scale | Standard Deviation 6.8 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Health Care Utilization | Imaging tests | 0.9 units on a scale | Standard Deviation 2.1 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Health Care Utilization | Visits | 1.7 units on a scale | Standard Deviation 7.8 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Health Care Utilization | Labs | 1.5 units on a scale | Standard Deviation 10.6 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Health Care Utilization | Cardiology tests | 0.8 units on a scale | Standard Deviation 2.7 |
| Family History + Whole Genome Sequencing - Cardiology | Changes in Health Care Utilization | Hospitalizations | 0.1 units on a scale | Standard Deviation 0.6 |
| Family History Only: Cardiology | Changes in Health Care Utilization | Hospitalizations | 0.1 units on a scale | Standard Deviation 0.7 |
| Family History Only: Cardiology | Changes in Health Care Utilization | Visits | 1.7 units on a scale | Standard Deviation 7.1 |
| Family History Only: Cardiology | Changes in Health Care Utilization | Cardiology tests | 0.9 units on a scale | Standard Deviation 3 |
| Family History Only: Cardiology | Changes in Health Care Utilization | Imaging tests | 1.0 units on a scale | Standard Deviation 1.7 |
| Family History Only: Cardiology | Changes in Health Care Utilization | Labs | 1.5 units on a scale | Standard Deviation 7.4 |
| Extension Cohort | Changes in Health Care Utilization | Imaging tests | 0.0 units on a scale | Standard Deviation 0 |
| Extension Cohort | Changes in Health Care Utilization | Cardiology tests | 0.3 units on a scale | Standard Deviation 0.6 |
| Extension Cohort | Changes in Health Care Utilization | Visits | 0.6 units on a scale | Standard Deviation 3.7 |
| Extension Cohort | Changes in Health Care Utilization | Hospitalizations | 0.0 units on a scale | Standard Deviation 0 |
| Extension Cohort | Changes in Health Care Utilization | Labs | 0.5 units on a scale | Standard Deviation 1.2 |
Primary
Information Sharing
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)
Population: Participants who answered information-sharing questions on the post-disclosure or 6-month follow-up questionnaire
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Information Sharing | Plans to share at disclosure | 43 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Information Sharing | Shared, per 6 month survey | 41 Participants |
| Family History Only: Primary Care | Information Sharing | Plans to share at disclosure | 39 Participants |
| Family History Only: Primary Care | Information Sharing | Shared, per 6 month survey | 27 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Information Sharing | Plans to share at disclosure | 42 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Information Sharing | Shared, per 6 month survey | 38 Participants |
| Family History Only: Cardiology | Information Sharing | Shared, per 6 month survey | 28 Participants |
| Family History Only: Cardiology | Information Sharing | Plans to share at disclosure | 30 Participants |
| Extension Cohort | Information Sharing | Plans to share at disclosure | 6 Participants |
| Extension Cohort | Information Sharing | Shared, per 6 month survey | 4 Participants |
Secondary
Decisional Regret
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)
Population: Participants who answered the decisional regret items on the post-disclosure, 6 week follow-up, or 6 month follow-up surveys
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Decisional Regret | Post-Disclosure | 8.9 units on a scale | Standard Deviation 16.7 |
| Family History + Whole Genome Sequencing: Primary Care | Decisional Regret | 6 Months Post-Disclosure | 11.5 units on a scale | Standard Deviation 18.2 |
| Family History + Whole Genome Sequencing: Primary Care | Decisional Regret | 6 Weeks Post-Disclosure | 9.8 units on a scale | Standard Deviation 16.6 |
| Family History Only: Primary Care | Decisional Regret | 6 Weeks Post-Disclosure | 17.2 units on a scale | Standard Deviation 15.5 |
| Family History Only: Primary Care | Decisional Regret | Post-Disclosure | 12.9 units on a scale | Standard Deviation 14 |
| Family History Only: Primary Care | Decisional Regret | 6 Months Post-Disclosure | 19.9 units on a scale | Standard Deviation 19.3 |
| Family History + Whole Genome Sequencing - Cardiology | Decisional Regret | 6 Weeks Post-Disclosure | 5.8 units on a scale | Standard Deviation 9.7 |
| Family History + Whole Genome Sequencing - Cardiology | Decisional Regret | Post-Disclosure | 6.2 units on a scale | Standard Deviation 9.6 |
| Family History + Whole Genome Sequencing - Cardiology | Decisional Regret | 6 Months Post-Disclosure | 7.9 units on a scale | Standard Deviation 11.2 |
| Family History Only: Cardiology | Decisional Regret | Post-Disclosure | 15.8 units on a scale | Standard Deviation 22.8 |
| Family History Only: Cardiology | Decisional Regret | 6 Months Post-Disclosure | 11.3 units on a scale | Standard Deviation 15.9 |
| Family History Only: Cardiology | Decisional Regret | 6 Weeks Post-Disclosure | 15.0 units on a scale | Standard Deviation 20.6 |
| Extension Cohort | Decisional Regret | 6 Weeks Post-Disclosure | 6.4 units on a scale | Standard Deviation 11.1 |
| Extension Cohort | Decisional Regret | Post-Disclosure | 6.1 units on a scale | Standard Deviation 10.8 |
| Extension Cohort | Decisional Regret | 6 Months Post-Disclosure | 4.2 units on a scale | Standard Deviation 10.2 |
Secondary
Expectations
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
Population: Randomized participants who completed the baseline survey.
| Arm | Measure | Group | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Identify disease risk | 40 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Influence treatment | 43 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Influence medical care | 44 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Influence medications | 35 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Influence end-of-life planning | 27 Participants |
| Family History + Whole Genome Sequencing: Primary Care | Expectations | Influence reproductive decisions | 18 Participants |
| Family History Only: Primary Care | Expectations | Influence end-of-life planning | 19 Participants |
| Family History Only: Primary Care | Expectations | Influence reproductive decisions | 8 Participants |
| Family History Only: Primary Care | Expectations | Identify disease risk | 36 Participants |
| Family History Only: Primary Care | Expectations | Influence medical care | 46 Participants |
| Family History Only: Primary Care | Expectations | Influence medications | 41 Participants |
| Family History Only: Primary Care | Expectations | Influence treatment | 44 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Influence medications | 36 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Influence end-of-life planning | 25 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Identify disease risk | 41 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Influence medical care | 40 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Influence treatment | 41 Participants |
| Family History + Whole Genome Sequencing - Cardiology | Expectations | Influence reproductive decisions | 24 Participants |
| Family History Only: Cardiology | Expectations | Influence medications | 35 Participants |
| Family History Only: Cardiology | Expectations | Influence treatment | 44 Participants |
| Family History Only: Cardiology | Expectations | Influence medical care | 44 Participants |
| Family History Only: Cardiology | Expectations | Influence reproductive decisions | 16 Participants |
| Family History Only: Cardiology | Expectations | Influence end-of-life planning | 22 Participants |
| Family History Only: Cardiology | Expectations | Identify disease risk | 42 Participants |
| Extension Cohort | Expectations | Influence end-of-life planning | 7 Participants |
| Extension Cohort | Expectations | Influence medical care | 9 Participants |
| Extension Cohort | Expectations | Influence treatment | 10 Participants |
| Extension Cohort | Expectations | Influence reproductive decisions | 4 Participants |
| Extension Cohort | Expectations | Influence medications | 10 Participants |
| Extension Cohort | Expectations | Identify disease risk | 8 Participants |
Secondary
Psychological Impact
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)
Population: Participants who answered the psychological impact items on the 6 week or 6 month follow-up questionnaires
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Psychological Impact | 6 Weeks Post-Disclosure | 13.2 units on a scale | Standard Deviation 3.8 |
| Family History + Whole Genome Sequencing: Primary Care | Psychological Impact | 6 Months Post-Disclosure | 14.9 units on a scale | Standard Deviation 3.2 |
| Family History Only: Primary Care | Psychological Impact | 6 Weeks Post-Disclosure | 15.1 units on a scale | Standard Deviation 3.9 |
| Family History Only: Primary Care | Psychological Impact | 6 Months Post-Disclosure | 15.2 units on a scale | Standard Deviation 3.7 |
| Family History + Whole Genome Sequencing - Cardiology | Psychological Impact | 6 Weeks Post-Disclosure | 14.2 units on a scale | Standard Deviation 4.8 |
| Family History + Whole Genome Sequencing - Cardiology | Psychological Impact | 6 Months Post-Disclosure | 16.0 units on a scale | Standard Deviation 5.4 |
| Family History Only: Cardiology | Psychological Impact | 6 Months Post-Disclosure | 16.5 units on a scale | Standard Deviation 5.6 |
| Family History Only: Cardiology | Psychological Impact | 6 Weeks Post-Disclosure | 14.5 units on a scale | Standard Deviation 4.3 |
| Extension Cohort | Psychological Impact | 6 Weeks Post-Disclosure | 11.4 units on a scale | Standard Deviation 4.2 |
| Extension Cohort | Psychological Impact | 6 Months Post-Disclosure | 14.1 units on a scale | Standard Deviation 3.5 |
Secondary
Understanding
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)
Population: Participants who answered the understanding item on the post-disclosure, 6-week follow-up, or 6-month follow-up surveys.
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Family History + Whole Genome Sequencing: Primary Care | Understanding | Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing: Primary Care | Understanding | 6 Months Post-Disclosure | 4.0 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing: Primary Care | Understanding | 6 Weeks Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.8 |
| Family History Only: Primary Care | Understanding | 6 Weeks Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.9 |
| Family History Only: Primary Care | Understanding | Post-Disclosure | 4.5 units on a scale | Standard Deviation 0.7 |
| Family History Only: Primary Care | Understanding | 6 Months Post-Disclosure | 4.3 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing - Cardiology | Understanding | 6 Weeks Post-Disclosure | 4.1 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing - Cardiology | Understanding | Post-Disclosure | 4.0 units on a scale | Standard Deviation 0.7 |
| Family History + Whole Genome Sequencing - Cardiology | Understanding | 6 Months Post-Disclosure | 4.0 units on a scale | Standard Deviation 0.8 |
| Family History Only: Cardiology | Understanding | Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.8 |
| Family History Only: Cardiology | Understanding | 6 Months Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.7 |
| Family History Only: Cardiology | Understanding | 6 Weeks Post-Disclosure | 4.2 units on a scale | Standard Deviation 0.9 |
| Extension Cohort | Understanding | 6 Weeks Post-Disclosure | 4.0 units on a scale | Standard Deviation 0.6 |
| Extension Cohort | Understanding | Post-Disclosure | 3.9 units on a scale | Standard Deviation 0.7 |
| Extension Cohort | Understanding | 6 Months Post-Disclosure | 4.0 units on a scale | Standard Deviation 0.6 |