Hereditary Breast and Ovarian Cancer SyndromeEarly Phase 1NCT03832985

Pediatric Reporting of Adult-Onset Genomic Results

A Early Phase 1 study testing Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result and Adolescents who received adult-onset result in people with Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome, run by Geisinger Clinic at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Any ageHealthy volunteers can take part
Conditions the study is for: Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
What is being tested?: Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result and Adolescents who received adult-onset result
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 162 participants
Where: 1 siteUnited States
Study dates: 25 Nov 2020to 31 Oct 2024
Phase: Early Phase 1
Are there results?: Yes, posted in the registrySummary in the doctors' view

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages Any age
All sexes
Healthy volunteers accepted
Child, Adult, Older adult

Who may be able to join

Any pediatric MyCode participant (ages 0-17) OR
Parent of a pediatric MyCode participant who has given assent to participate in this study.

Who cannot join

Individuals who have already had genetic counseling for any of the actionable target conditions as part of their routine clinical care.
Individuals who have already had genetic counseling for any of the actionable target conditions through their participation in another research study.

Trial locations and contacts

1 site in 1 country.

United States1 site

Geisinger
Danville, Pennsylvania, 17822

Other trials in United States

About this study

Official title: Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents

The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among MyCode adolescent participants and their parents, and health behaviors of children who received an adult- or pediatric-onset genomic result. Data will be gathered via quantitative surveys using validated measures of distress, family functioning, quality of life, body image, perceived cancer/heart disease risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic information; qualitative interviews with adolescents and parents; and electronic health records review of children's initiation of risk reduction behaviors. The investigators will also conduct empirical and theoretical legal research to examine the loss of chance doctrine and its applicability to genomic research.

Read the detailed description

The Investigators propose a longitudinal, observational cohort study using mixed methods to compare change in psychosocial outcomes and health behaviors among three study groups of MyCode adolescents and three groups of their parents:

Group 1 - parents of child(ren) with a pathogenic variant in a gene associated with adult onset of disease
Group 2 - parents of child(ren) with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood
Group 3 - parents of child(ren) who tested negative for the familial genetic variant
Group 4 - adolescents with a pathogenic variant in a gene associated with adult onset of disease
Group 5 - adolescents with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood
Group 6 - adolescents who tested negative for the familial genetic variant

The Investigators will use the current existing MyCode list of actionable genes designated as actionable by the American College of Medical Genetics and Genomics. Parents of pediatric MyCode participants will be offered the opportunity to participate in the study prior to learning to which group they belong. Consistent with Geisinger policy, children ages 7-17 will be asked to give assent to participate. If a child does not want to assent to participate, he or she will not be enrolled into the study (regardless of their parents' preference regarding enrollment). Parents of children who do not give assent will be ineligible to participate. Parents who decline participation when their child is suspected to have a pathogenic adult-onset result will have their child's sample held for clinical confirmation until the child reaches age 18 years. Parents who decline participation when their child is suspected to have a pathogenic pediatric-onset result will proceed to clinical confirmation of the result and, if confirmed, follow the established clinical return procedure. This recruitment approach is consistent with the MyCode philosophy of notifying participants of actionable findings. Parent-participants will be asked to assess psychosocial outcomes for themselves and for their children. Consistent with co-investigator Angela Bradbury's research on the experience of adolescent girls from families at increased risk for breast cancer, pediatric participants ages 11-17 years at enrollment (i.e., adolescents) will also participate in quantitative surveys and qualitative interviews.

Psychosocial variables such as anxiety and depression will be assessed among parents and adolescents at enrollment (T1), after which those suspected of having a pathogenic variant will proceed to clinical confirmation of that variant. Those whose variant is confirmed clinically as pathogenic or likely pathogenic will then be scheduled for a disclosure appointment. These appointments will be conducted by a genetic counselor and psychologist, who will perform psychosocial assessment, conduct therapeutic consults as needed, and conduct periodic psychosocial assessments of adolescent participants with adult-onset results. Participants with suspected pathogenic variants that are not confirmed clinically and participants without a suspected pathogenic variant will be scheduled for a study visit to notify them of their group status and remind them to follow up with their pediatrician if they have significant personal or family history of cancer or heart disease.

Validated surveys will be used to measure outcomes in each study group at 1 month (T3), 6 months (T4) and 12 months (T5) post-disclosure visit. The investigators will conduct qualitative interviews with a subset of at least 45 participants in each of the two study groups who receive a genomic result to better understand the lived experience of adolescents with an actionable genomic finding and their parents. Data collection will continue after the grant funding ends because of Geisinger Research Division's commitment to following the study cohort. To address the legal specific aim, Dr. Wagner will lead the study team's legal experts in examining and monitoring the loss of chance doctrine in medical malpractice cases in federal and state courts across the United States and in monitoring legislative developments relating to the loss of chance doctrine as it applies to returning adult-onset genomic results to children.

Conditions: Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
Being tested: Child(ren) receive an adult-onset result, Child(ren) received a pediatric-onset result, Control - Negative Result, Adolescents who received adult-onset result, Adolescents who received a pediatric-onset result
Keywords: adult-onset, pediatric, genomic, genetic
Medical subject headings: Hereditary Breast and Ovarian Cancer Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Hyperlipoproteinemia Type II

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Child(ren) receive an adult-onset resultGenetic
Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an adult-onset genomic result.
Child(ren) received a pediatric-onset resultGenetic
Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an pediatric-onset genomic result.
Control - Negative ResultGenetic
Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) tested negative for the familial genetic variant.
Adolescents who received adult-onset resultGenetic
Psychological outcomes among adolescents who received an adult-onset result
Adolescents who received a pediatric-onset resultGenetic
Psychological outcomes among adolescents who received a pediatric-onset result
Adolescent controls - negative for familial variantGenetic
Psychological outcomes among adolescents who tested negative for the familial genetic variant

Study groups in NCT03832985
Study group	Role	What they receive
Group 1 - Parents of child(ren) who receive an adult-onset result	Experimental	Compare change in psychosocial outcomes of parents of child(ren) with a pathogenic variant in a gene associated with adult onset of disease. Receives: Genetic: Child(ren) receive an adult-onset result
Group 2 - Parents of child(ren) who receive a pediatric-onset result	Experimental	Compare change in psychosocial outcomes among parents of child(ren) with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood. Receives: Genetic: Child(ren) received a pediatric-onset result
Group 3 - Parents of child(ren) negative for familial variant	Active comparator	Parents of child(ren) who tested negative for the familial genetic variant Receives: Genetic: Control - Negative Result
Group 4 - Adolescents with adult-onset variant	Experimental	Adolescents with adult-onset genetic variant Receives: Genetic: Adolescents who received adult-onset result
Group 5 - Adolescents with pediatric-onset variant	Experimental	Adolescents with pediatric-onset genetic variant Receives: Genetic: Adolescents who received a pediatric-onset result
Group 6 - Adolescents negative for familial variant	Active comparator	Adolescents who tested negative for familial genetic variant Receives: Genetic: Adolescent controls - negative for familial variant

What is being measured

The primary outcome is the main question the study is designed to answer.

The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
Measured: Baseline
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
Measured: Baseline
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: Baseline
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: Baseline
Initiation of Risk Reduction Behavior
Initiation of risk reduction behavior (yes/no) among children with familial gene variant. Not that this is among children of all ages (not just adolescents). Counts are of participants who initiated a risk reduction behavior. Data were collected via chart review for pre-selected risk reduction procedures specific to each genetic condition. Time in months from results disclosure date to date of risk reduction behavior was tracked.
Measured: 6+ months post-disclosure to pediatric proband
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases.Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
Measured: 1-month post-disclosure
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
Measured: 6-month post-disclosure
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
Measured: 12-month post-disclosure
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
Measured: 1-month post-disclosure
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
Measured: 6-month post-disclosure
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
Measured: 12-month post
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 1-month post
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 6-month post
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 12-month post
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 1-month post
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 6-month post
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 12-month post
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Measured: baseline
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Measured: 1-month (T2)
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Measured: 6-month (T3)
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Measured: 12-month (T4)
Revised Children's Anxiety and Depression Scale - Depression Subscale
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Measured: Baseline
Revised Children's Anxiety and Depression Scale - Depression Subscale
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Measured: 1-month (T2)
Revised Children's Anxiety and Depression Scale - Depression Subscale
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Measured: 6-month (T3)
Revised Children's Anxiety and Depression Scale - Depression Subscale
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Measured: 12-month (T4)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: baseline
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 1-month (T2)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 6-month (T2)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Measured: 12-month (T2)
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 1-month (T2)
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 6-month (T3)
Health-Related Quality of Life (HRQOL)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Measured: 12-month (T3)

Secondary outcomes (2)

Decision Regret Scale
The Decision Regret Scale is made up of 5 items that address the notion of regret in a variety of ways. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items. The total score is taken from the mean of the 5 items, and then converted to a 0-100 scale by subtracting 1 from each item then multiply by 25. A score of 0 means no regret; a score of 100 means high regret.
Measured: 1- month post-disclosure
Decision Regret Scale
The Decision Regret Scale is made up of 5 items that address the notion of regret in a variety of ways. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items. The total score is taken from the mean of the 5 items, and then converted to a 0-100 scale by subtracting 1 from each item then multiply by 25. A score of 0 means no regret; a score of 100 means high regret.
Measured: 12- month post-disclosure

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

25 Nov 202031 Oct 2024

First posted6 Feb 2019
Study start25 Nov 2020
Primary completion31 Oct 2024
Study completion31 Oct 2024

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
Publications (26)Papers the sponsor has linked to this study.
Other trials for Hereditary Breast and Ovarian Cancer SyndromeStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Early Phase 1
Primary purpose: Health services research
Allocation: Non-randomised
Intervention model: Parallel groups
Model description: The study sample will be drawn from all pediatric MyCode participants (ages 0-17 years). At least one parent will be enrolled for each pediatric participant. Parents of children ages 0-10 years at enrollment will participate in data collection; parents of children ages 11-17 years at enrollment and their children will participate in data collection. Group 3 participants will be frequency matched to Groups 1 and 2 participants on age and sex. Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings. Quantitative data collection will be on 705 (530 parents and 175 adolescents).
Masking: None (open label)
Enrolment: 162 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT03832985
Sponsor's protocol ID: 2018-0419
Other IDs: 1R01HG009671-01A1
Status last verified: Mar 2026
First submitted: 4 Feb 2019
Last updated: 9 Apr 2026
Results posted: Yes, on ClinicalTrials.gov
Data monitoring committee: Yes
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: Yes: As part of his/her responsibilities for the proposed study, the Geisinger Data Broker will work under the guidance of Dr. Kirchner to prepare a cleaned, de-identified copy of each quantitative data set used to support each publication that derives from the study. Data will be stripped of identifiers according to the Safe Harbor method of de-identification (https://www.hhs.gov/hipaa/for-professionals/privacy/special-topics/de-identification/index.html). These data and related information (participant flow, baseline characteristics, outcome measures and statistical analyses) will then be uploaded to ClinicalTrials.gov within four weeks of acceptance of the corresponding publication. If applicable, the Data Broker will work with the project manager to upload data on adverse events to ClinicalTrials.gov on the same time schedule.

Publications

Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983 Jun;67(6):361-70. doi: 10.1111/j.1600-0447.1983.tb09716.x.
PubMed 6880820
Bjelland I, Dahl AA, Haug TT, Neckelmann D. The validity of the Hospital Anxiety and Depression Scale. An updated literature review. J Psychosom Res. 2002 Feb;52(2):69-77. doi: 10.1016/s0022-3999(01)00296-3.
PubMed 11832252
Boterhoven de Haan KL, Hafekost J, Lawrence D, Sawyer MG, Zubrick SR. Reliability and validity of a short version of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 2015 Mar;54(1):116-23. doi: 10.1111/famp.12113. Epub 2014 Nov 11.
PubMed 25385473
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Study at a glance

From the registry record, last updated by the sponsor on 9 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents
ClinicalTrials.gov ID: NCT03832985
Acronym / sponsor ID: 2018-0419
Conditions: Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome, Familial Hypercholesterolemia
Keywords: adult-onset, pediatric, genomic, genetic
Phase: Early Phase 1
Study type: Interventional
Recruitment status: Completed
Enrolment: 162 participants (actual)
Lead sponsor: Geisinger ClinicUniversity, hospital or other
Collaborators: National Human Genome Research Institute (NHGRI)
Study start: 25 Nov 2020 (actual)
Primary completion: 31 Oct 2024 (actual)
Study completion: 31 Oct 2024 (actual)
First posted: 6 Feb 2019 (actual)
Results: Posted 9 Apr 2026

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

Group 1 - parents of child(ren) with a pathogenic variant in a gene associated with adult onset of disease
Group 2 - parents of child(ren) with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood
Group 3 - parents of child(ren) who tested negative for the familial genetic variant
Group 4 - adolescents with a pathogenic variant in a gene associated with adult onset of disease
Group 5 - adolescents with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood
Group 6 - adolescents who tested negative for the familial genetic variant

Study design

Primary purpose: Health services research
Allocation: Non-randomised
Intervention model: Parallel groups
Masking: None (open label)
Number of arms: 6
Model description: The study sample will be drawn from all pediatric MyCode participants (ages 0-17 years). At least one parent will be enrolled for each pediatric participant. Parents of children ages 0-10 years at enrollment will participate in data collection; parents of children ages 11-17 years at enrollment and their children will participate in data collection. Group 3 participants will be frequency matched to Groups 1 and 2 participants on age and sex. Individuals who have already had genetic counseling for any of the MyCode target conditions as part of their routine clinical care will be excluded to avoid confounding study findings. Quantitative data collection will be on 705 (530 parents and 175 adolescents).

Arm	Type	Receives
Group 1 - Parents of child(ren) who receive an adult-onset result	Experimental	Genetic: Child(ren) receive an adult-onset resultCompare change in psychosocial outcomes of parents of child(ren) with a pathogenic variant in a gene associated with adult onset of disease.
Group 2 - Parents of child(ren) who receive a pediatric-onset result	Experimental	Genetic: Child(ren) received a pediatric-onset resultCompare change in psychosocial outcomes among parents of child(ren) with a pathogenic variant in a gene associated with pediatric onset of disease or with risk reduction interventions that begin in childhood.
Group 3 - Parents of child(ren) negative for familial variant	Active comparator	Genetic: Control - Negative ResultParents of child(ren) who tested negative for the familial genetic variant
Group 4 - Adolescents with adult-onset variant	Experimental	Genetic: Adolescents who received adult-onset resultAdolescents with adult-onset genetic variant
Group 5 - Adolescents with pediatric-onset variant	Experimental	Genetic: Adolescents who received a pediatric-onset resultAdolescents with pediatric-onset genetic variant
Group 6 - Adolescents negative for familial variant	Active comparator	Genetic: Adolescent controls - negative for familial variantAdolescents who tested negative for familial genetic variant

Who may qualify

Sex: All
Healthy volunteers: Accepted
Age groups: Child, Adult, Older adult

Key inclusion criteria (2 listed)

Any pediatric MyCode participant (ages 0-17) OR
Parent of a pediatric MyCode participant who has given assent to participate in this study.

Key exclusion criteria (2 listed)

Individuals who have already had genetic counseling for any of the actionable target conditions as part of their routine clinical care.
Individuals who have already had genetic counseling for any of the actionable target conditions through their participation in another research study.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
Child(ren) receive an adult-onset resultAssess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an adult-onset genomic result.	Genetic	Group 1 - Parents of child(ren) who receive an adult-onset result
Child(ren) received a pediatric-onset resultAssess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an pediatric-onset genomic result.	Genetic	Group 2 - Parents of child(ren) who receive a pediatric-onset result
Control - Negative ResultAssess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) tested negative for the familial genetic variant.	Genetic	Group 3 - Parents of child(ren) negative for familial variant
Adolescents who received adult-onset resultPsychological outcomes among adolescents who received an adult-onset result	Genetic	Group 4 - Adolescents with adult-onset variant
Adolescents who received a pediatric-onset resultPsychological outcomes among adolescents who received a pediatric-onset result	Genetic	Group 5 - Adolescents with pediatric-onset variant
Adolescent controls - negative for familial variantPsychological outcomes among adolescents who tested negative for the familial genetic variant	Genetic	Group 6 - Adolescents negative for familial variant

Primary outcome

The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
Time frame: Baseline
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
Time frame: Baseline
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
Time frame: Baseline
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Health-Related Quality of Life (HRQOL)
Time frame: Baseline
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Initiation of Risk Reduction Behavior
Time frame: 6+ months post-disclosure to pediatric proband
Initiation of risk reduction behavior (yes/no) among children with familial gene variant. Not that this is among children of all ages (not just adolescents). Counts are of participants who initiated a risk reduction behavior. Data were collected via chart review for pre-selected risk reduction procedures specific to each genetic condition. Time in months from results disclosure date to date of risk reduction behavior was tracked.
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
Time frame: 1-month post-disclosure
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases.Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
Time frame: 6-month post-disclosure
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale
Time frame: 12-month post-disclosure
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest anxiety) - 21 (most severe anxiety).
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
Time frame: 1-month post-disclosure
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
Time frame: 6-month post-disclosure
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale
Time frame: 12-month post
The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. Total range is 0 (lowest) - 21 (most severe).
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
Time frame: 1-month post
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
Time frame: 6-month post
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)
Time frame: 12-month post
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Health-Related Quality of Life (HRQOL)
Time frame: 1-month post
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Health-Related Quality of Life (HRQOL)
Time frame: 6-month post
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Health-Related Quality of Life (HRQOL)
Time frame: 12-month post
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Time frame: baseline
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Time frame: 1-month (T2)
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Time frame: 6-month (T3)
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Revised Children's Anxiety and Depression Scale - Anxiety Subscale
Time frame: 12-month (T4)
Anxiety subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher anxiety).
Revised Children's Anxiety and Depression Scale - Depression Subscale
Time frame: Baseline
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Revised Children's Anxiety and Depression Scale - Depression Subscale
Time frame: 1-month (T2)
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Revised Children's Anxiety and Depression Scale - Depression Subscale
Time frame: 6-month (T3)
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
Revised Children's Anxiety and Depression Scale - Depression Subscale
Time frame: 12-month (T4)
Depression subscale of the brief (25-item) version of Revised Children's Anxiety and Depression Scale. Items are scored from 0 (never) to 3 (always) and cumulative scores are converted to T scores per measure guidelines based on participants' school grade and sex. RCADS raw scores were converted to age- and sex-normed T-scores, where a T-score of 48 represents the population mean and the standard deviation is 14 at baseline. T score of greater than or equal to 70 exceeds the clinical threshold (i.e., higher T score = higher depression).
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
Time frame: baseline
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
Time frame: 1-month (T2)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
Time frame: 6-month (T2)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
General Functioning 12-item Subscale (GF12) of the McMaster Family Assessment Device (FAD)
Time frame: 12-month (T2)
The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed. The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning)
Health-Related Quality of Life (HRQOL)
Time frame: 1-month (T2)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Health-Related Quality of Life (HRQOL)
Time frame: 6-month (T3)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.
Health-Related Quality of Life (HRQOL)
Time frame: 12-month (T3)
Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days. Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. Here we report the number and % of participants who reported fair or poor HRQoL.

2 secondary outcomes

Decision Regret Scale
Time frame: 1- month post-disclosure
Decision Regret Scale
Time frame: 12- month post-disclosure

Results and safety

Results posted to the registry on 9 Apr 2026, as reported by the sponsor. Figures are copied from the record, not re-analysed. Full results on ClinicalTrials.gov.

Participant flow

Group	Started	Completed
Group 1 (Parents of Child(Ren) With Adult-onset Result)	21	13
Group 2 (Parents of Child(Ren) With Pediatric-onset Result)	36	18
Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant)	35	20
Group 4 (Adolescent With Adult-onset Result)	15	4
Group 5 (Adolescents With Pediatric-onset Result)	20	13
Group 6 (Adolescents Who Tested Negative for Familial Variant)	35	23

Primary outcome: The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale

Time frame: Baseline. Mean (Standard Deviation). Unit: units on scale

Measure	Group 1 (Parents of Child(Ren) With Adult-onset Result) n = 21	Group 2 (Parents of Child(Ren) With Pediatric-onset Result) n = 36	Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant n = 35
Value	10.32 (3.68)	8.26 (3.33)	8.96 (3.10)

Population analysed: Participants who have completed the survey at each follow-up time.

Primary outcome: The Hospital Anxiety and Depression Scale (HADS) - Depression Subscale

Time frame: Baseline. Mean (Standard Deviation). Unit: units on scale

Measure	Group 1 (Parents of Child(Ren) With Adult-onset Result) n = 21	Group 2 (Parents of Child(Ren) With Pediatric-onset Result) n = 36	Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant n = 35
Value	6.79 (2.4)	6.61 (2.65)	6.33 (2.4)

Population analysed: Participants who have completed the survey at each follow-up time.

Primary outcome: The General Functioning 12-item Subscale (GF12) of The McMaster Family Assessment Device (FAD)

Time frame: Baseline. Mean (Standard Deviation). Unit: units of scale

Measure	Group 1 (Parents of Child(Ren) With Adult-onset Result) n = 16	Group 2 (Parents of Child(Ren) With Pediatric-onset Result) n = 25	Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant n = 30
Value	1.7 (0.4)	1.5 (0.5)	1.7 (0.6)

Population analysed: Participants who have completed the survey at each follow-up time.

Primary outcome: Health-Related Quality of Life (HRQOL)

Time frame: Baseline. Count of participants. Unit: Participants

Measure	Group 1 (Parents of Child(Ren) With Adult-onset Result) n = 21	Group 2 (Parents of Child(Ren) With Pediatric-onset Result) n = 36	Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant n = 35
Value	3	8	6

Population analysed: Collapse score 4-5 to 'Fair to Poor'

2 secondary outcomes are reported in the full results.

Adverse events

Time frame: Through final data collection (12-month follow-up survey), which was completed on 10/31/2024. Other adverse events reported at 0% frequency or more

Group	Serious adverse events	Other adverse events	Deaths
Group 1 (Parents of Child(Ren) With Adult-onset Result)	0 of 21 (0%)	0 of 21 (0%)	0 of 21
Group 2 (Parents of Child(Ren) With Pediatric-onset Result)	0 of 36 (0%)	0 of 36 (0%)	0 of 36
Group 3 (Parents of Child(Ren) Who Tested Negative for Familial Variant)	0 of 35 (0%)	0 of 35 (0%)	0 of 35
Group 4 (Adolescents With Adult-onset Result)	0 of 15 (0%)	0 of 15 (0%)	0 of 15
Group 5 (Adolescents With Pediatric-onset Result)	0 of 20 (0%)	0 of 20 (0%)	0 of 20
Group 6 (Adolescents Who Tested Negative for Familial Variant)	0 of 35 (0%)	0 of 35 (0%)	0 of 35

Loading the posted results from ClinicalTrials.gov…

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 9 Apr 2026.
Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Background: PubMed 6880820Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983 Jun;67(6):361-70. doi: 10.1111/j.1600-0447.1983.tb09716.x.
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Background: PubMed 25385473Boterhoven de Haan KL, Hafekost J, Lawrence D, Sawyer MG, Zubrick SR. Reliability and validity of a short version of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 2015 Mar;54(1):116-23. doi: 10.1111/famp.12113. Epub 2014 Nov 11.
BackgroundMoos R, Moos B. Family Environment Scale Manual: Development, Applications, Research. 3rd ed. Palo Alto, CA: Consulting Psychologist Press; 1994
BackgroundRosenberg M. Society and the adolescent self-image. Princeton, NJ: Princeton University Press; 1965
Background: PubMed 12926578Brehaut JC, O'Connor AM, Wood TJ, Hack TF, Siminoff L, Gordon E, Feldman-Stewart D. Validation of a decision regret scale. Med Decis Making. 2003 Jul-Aug;23(4):281-92. doi: 10.1177/0272989X03256005.
Background: PubMed 19736695DeMarco TA, Peshkin BN, Mars BD, Tercyak KP. Patient satisfaction with cancer genetic counseling: a psychometric analysis of the Genetic Counseling Satisfaction Scale. J Genet Couns. 2004 Aug;13(4):293-304. doi: 10.1023/b:jogc.0000035523.96133.bc.
Background: PubMed 22035996Bond FW, Hayes SC, Baer RA, Carpenter KM, Guenole N, Orcutt HK, Waltz T, Zettle RD. Preliminary psychometric properties of the Acceptance and Action Questionnaire-II: a revised measure of psychological inflexibility and experiential avoidance. Behav Ther. 2011 Dec;42(4):676-88. doi: 10.1016/j.beth.2011.03.007. Epub 2011 May 25.
Background: PubMed 16446344Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE. Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol. 2006 Feb 1;24(4):700-6. doi: 10.1200/JCO.2005.01.7541.
Background: PubMed 24625446Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Epub 2014 Mar 13.
Background: PubMed 19687109DuBenske LL, Burke Beckjord E, Hawkins RP, Gustafson DH. Psychometric evaluation of the Health Information Orientation Scale: a brief measure for assessing health information engagement and apprehension. J Health Psychol. 2009 Sep;14(6):721-30. doi: 10.1177/1359105309338892.
Background: PubMed 27551110Bradbury AR, Patrick-Miller L, Schwartz LA, Egleston BL, Henry-Moss D, Domchek SM, Daly MB, Tuchman L, Moore C, Rauch PK, Shorter R, Karpink K, Sands CB. Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History. J Clin Oncol. 2016 Oct 1;34(28):3409-16. doi: 10.1200/JCO.2015.66.3450. Epub 2016 Aug 22.
Individual participant dataSharing planned: Yes. As part of his/her responsibilities for the proposed study, the Geisinger Data Broker will work under the guidance of Dr. Kirchner to prepare a cleaned, de-identified copy of each quantitative data set used to support each publication that derives from the study. Data will be stripped of identifiers according to the Safe Harbor method of de-identification (https://www.hhs.gov/hipaa/for-professionals/privacy/special-topics/de-identification/index.html). These data and related information (participant flow, baseline characteristics, outcome measures and statistical analyses) will then be uploaded to ClinicalTrials.gov within four weeks of acceptance of the corresponding publication. If applicable, the Data Broker will work with the project manager to upload data on adverse events to ClinicalTrials.gov on the same time schedule.

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Adam H Buchanan, MS, MPH, CGC principal investigator

Geisinger - Department of Genomic Health

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 9 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this phase mean?

Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

Yes. Results are posted in the registry (first posted 9 Apr 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

The Hospital Anxiety and Depression Scale (HADS) - Anxiety Subscale (time frame: Baseline). The study lists 32 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03832985, which also lists 26 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Apr 2026.