Pediatric Reporting of Adult-Onset Genomic Results

NCT03832985 | Completed Early Phase 1 Results DMC

• 2 other identifiers: 2018-04191R01HG009671-01A1
• Study Type: interventional
• Target: 162
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Lynch Syndrome; Familial Hypercholesterolemia; Hereditary Breast and Ovarian Cancer Syndrome

Keywords

adult-onset; pediatric; genomic; genetic

Outcome Measures

Primary Outcomes (32)

• 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).

  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).

  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)

  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.

  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.

  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).

  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).

  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).

  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).

  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).

  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).

  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)

  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)

  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)

  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.

  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.

  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.

  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).

  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).

  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).

  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).

  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).

  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).

  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).

  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).

  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)

  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)

  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)

  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)

  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.

  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.

  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.

  12-month (T3)

Secondary Outcomes (2)

• Decision Regret Scale

  1- month post-disclosure

• Decision Regret Scale

  12- month post-disclosure

Study Arms (6)

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.

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.

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

Genetic: Control - Negative Result

Group 4 - Adolescents with adult-onset variant

EXPERIMENTAL

Adolescents with adult-onset genetic variant

Genetic: Adolescents who received adult-onset result

Group 5 - Adolescents with pediatric-onset variant

EXPERIMENTAL

Adolescents with pediatric-onset genetic variant

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

Genetic: Adolescent controls - negative for familial variant

Interventions

Child(ren) receive an adult-onset result GENETIC

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an adult-onset genomic result.

Group 1 - Parents of child(ren) who receive an adult-onset result

Control - Negative Result GENETIC

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) tested negative for the familial genetic variant.

Group 3 - Parents of child(ren) negative for familial variant

Adolescents who received adult-onset result GENETIC

Psychological outcomes among adolescents who received an adult-onset result

Group 4 - Adolescents with adult-onset variant

Adolescent controls - negative for familial variant GENETIC

Psychological outcomes among adolescents who tested negative for the familial genetic variant

Group 6 - Adolescents negative for familial variant

Child(ren) received a pediatric-onset result GENETIC

Assess the psychosocial outcomes and the lived experience of MyCode parents whose child(ren) have received an pediatric-onset genomic result.

Group 2 - Parents of child(ren) who receive a pediatric-onset result

Adolescents who received a pediatric-onset result GENETIC

Psychological outcomes among adolescents who received a pediatric-onset result

Group 5 - Adolescents with pediatric-onset variant

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Geisinger Clinic: lead
• National Human Genome Research Institute (NHGRI): collaborator

Study Sites (1)

Geisinger

Danville, Pennsylvania, 17822, United States

Location

Related Publications (26)

• 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.

  PMID: 6880820 BACKGROUND

• 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.

  PMID: 11832252 BACKGROUND

• 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.

  PMID: 25385473 BACKGROUND

• Moos R, Moos B. Family Environment Scale Manual: Development, Applications, Research. 3rd ed. Palo Alto, CA: Consulting Psychologist Press; 1994

  BACKGROUND

• Rosenberg M. Society and the adolescent self-image. Princeton, NJ: Princeton University Press; 1965

  BACKGROUND

• Brehaut 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.

  PMID: 12926578 BACKGROUND

• DeMarco 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.

  PMID: 19736695 BACKGROUND

• Bond 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.

  PMID: 22035996 BACKGROUND

• Patenaude 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.

  PMID: 16446344 BACKGROUND

• Gray 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.

  PMID: 24625446 BACKGROUND

• DuBenske 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.

  PMID: 19687109 BACKGROUND

• Bradbury 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.

  PMID: 27551110 BACKGROUND

• Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL; MedSeq Project team. Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. Per Med. 2016 Jan 1;13(1):13-20. doi: 10.2217/pme.15.45. Epub 2016 Jan 8.

  PMID: 27019659 BACKGROUND

• Schwartz MD, Kaufman E, Peshkin BN, Isaacs C, Hughes C, DeMarco T, Finch C, Lerman C. Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing. J Clin Oncol. 2003 Nov 1;21(21):4034-41. doi: 10.1200/JCO.2003.01.088.

  PMID: 14581427 BACKGROUND

• Chew LD, Bradley KA, Boyko EJ. Brief questions to identify patients with inadequate health literacy. Fam Med. 2004 Sep;36(8):588-94.

  PMID: 15343421 BACKGROUND

• Kaphingst KA, Facio FM, Cheng MR, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet. 2012 Nov;82(5):408-15. doi: 10.1111/j.1399-0004.2012.01909.x. Epub 2012 Aug 7.

  PMID: 22694298 BACKGROUND

• Buchanan AH, Voils CI, Schildkraut JM, Fine C, Horick NK, Marcom PK, Wiggins K, Skinner CS. Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation. J Genet Couns. 2017 Feb;26(1):79-92. doi: 10.1007/s10897-016-9981-6. Epub 2016 Jun 6.

  PMID: 27265406 BACKGROUND

• Giannopoulou I, Smith P, Ecker C, Strouthos M, Dikaiakou A, Yule W. Factor structure Children's Revised Impact of Events (CRIES) Scale with children exposed to earthquake Pers Individ Diff. 2006;40(5):1027-1037

  BACKGROUND

• Read CY, Perry DJ, Duffy ME. Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale. J Nurs Scholarsh. 2005;37(3):203-8. doi: 10.1111/j.1547-5069.2005.00036.x.

  PMID: 16235859 BACKGROUND

• Osborne RH, Elsworth GR, Whitfield K. The Health Education Impact Questionnaire (heiQ): an outcomes and evaluation measure for patient education and self-management interventions for people with chronic conditions. Patient Educ Couns. 2007 May;66(2):192-201. doi: 10.1016/j.pec.2006.12.002. Epub 2007 Feb 22.

  PMID: 17320338 BACKGROUND

• McDermott E, Moloney J, Rafter N, Keegan D, Byrne K, Doherty GA, Cullen G, Malone K, Mulcahy HE. The body image scale: a simple and valid tool for assessing body image dissatisfaction in inflammatory bowel disease. Inflamm Bowel Dis. 2014 Feb;20(2):286-90. doi: 10.1097/01.MIB.0000438246.68476.c4.

  PMID: 24374873 BACKGROUND

• Greco LA, Lambert W, Baer RA. Psychological inflexibility in childhood and adolescence: development and evaluation of the Avoidance and Fusion Questionnaire for Youth. Psychol Assess. 2008 Jun;20(2):93-102. doi: 10.1037/1040-3590.20.2.93.

  PMID: 18557686 BACKGROUND

• CDC. Office of Public Health Genomics - Genomic Tests and Family History by Levels of Evidence.2014; http://www.cdc.gov/genomics/gtesting/tier.htm.

  BACKGROUND

• Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011 Feb 10;470(7333):204-13. doi: 10.1038/nature09764.

  PMID: 21307933 BACKGROUND

• Savatt JM, Urban GM, Floyd AE, Leitzel T, Murray JAC, Hu Y, Williams MS, Buchanan AH. Performance of recommended management among pediatric patients identified through genomic screening. Transl Behav Med. 2025 Jan 16;15(1):ibaf065. doi: 10.1093/tbm/ibaf065.

  PMID: 41193187 DERIVED

• Savatt JM, Wagner JK, Joffe S, Rahm AK, Williams MS, Bradbury AR, Davis FD, Hergenrather J, Hu Y, Kelly MA, Kirchner HL, Meyer MN, Mozersky J, O'Dell SM, Pervola J, Seeley A, Sturm AC, Buchanan AH. Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents. BMC Pediatr. 2020 May 15;20(1):222. doi: 10.1186/s12887-020-02070-4.

  PMID: 32414353 DERIVED

MeSH Terms

Conditions

Hereditary Breast and Ovarian Cancer Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Breast Neoplasms; Neoplasms by Site; Neoplasms; Ovarian Neoplasms; Endocrine Gland Neoplasms; Neoplastic Syndromes, Hereditary; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases; Gonadal Disorders; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders

Results Point of Contact

• Title: Adam Buchanan
• Organization: Geisinger

ahbuchanan@geisinger.edu

570-214-4747

Study Officials

• Adam H Buchanan, MS, MPH, CGC

  Geisinger - Department of Genomic Health

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Masking Details: No one is prevented from having knowledge of this project.
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor and Chair

Model Details: 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).

Study Record Dates

• First Submitted: February 4, 2019
• First Posted: February 6, 2019
• Study Start: November 25, 2020
• Primary Completion: October 31, 2024
• Study Completion: October 31, 2024
• Last Updated: April 9, 2026
• Results First Posted: April 9, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, ANALYTIC CODE
• Time Frame: Within four weeks of acceptance of the corresponding publication.

Locations

US (1)