Clinical Trial: Cancer Genetics Hereditary Cancer Panel Testing

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing

Brief Summary: This study is about understanding the use of a genetic test (Myriad Genetics myRisk panel) that analyzes 25 genes related to different hereditary cancer conditions. The investigators hope to learn more about how this type of genetic test is used clinically. The investigators also hope to understand more about the experience of individuals and families who undergoing this test of genetic testing.

Detailed Summary:

If a patient is identified as fulfilling one of the screening criteria, possible participants should be referred to the Cancer Genetics Clinic for further evaluation for possible enrollment into the study. A pre-clinic questionnaire will be sent to the patients prior to their assessment in cancer genetics clinic in order to obtain baseline information that will be used to inform changes during follow-up. Assessments performed exclusively to determine eligibility for this study will be done only after obtaining informed consent. Assessments performed for clinical indications (not exclusively to determine study eligibility) may be used for baseline values even if the studies were done before informed consent was obtained.

All screening procedures must be performed on the day of registration unless otherwise stated. The screening procedures include:

1. Medical history -Complete medical and surgical history, family history including a multi-generation family pedigree, and social history
2. Demographics - Age, gender, race, ethnicity
3. Review subject eligibility criteria
4. Physical exam including vital signs, height and weight
5. Blood draw for correlative studies
6. DNA from whole blood will be isolated

Intervention Procedure:

Approximately 15 ml of blood will be drawn at the time of enrollment (one time blood draw) and sent to Myriad Genetics and Laboratories for analysis of 25 genes using next generation sequencing. This platform will sequence 25 genes in one experimental run and the results will be sent back to the cancer genetics
Sponsor: University of Southern California

Current Primary Outcome: Develop Hereditary Cancer panel repository [ Time Frame: 3 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

• Analyze frequency of genes found on HCP panel in high-risk population [ Time Frame: 3 years ]
  Summarize results of the HCP testing in terms of genes found with mutations and the frequency of mutation. The investigators will review expected versus actual off target or incidental findings from HCP testing. Off target findings will be classified into clinical actionable versus variants of uncertain significance (VUS). Incidence rates of off target mutations will be quantified and types of mutations will be qualitatively described.
• Follow medical management of subjects after multi-gene panel testing [ Time Frame: 5 years ]
  Summarize the medical management of these subjects - prior to testing after results disclosure of testing, and over the subsequent 5 years. The investigators will descriptively report changes to medical management from pre-cancer risk assessment and HCP testing and post-cancer risk assessment and HCP testing. For each patient, the investigators will determine whether the HCP result leads to a change in recommendation in regards to the risk reducing interventions and treatment.
• Descriptive analysis of patient information gained through process [ Time Frame: 5 years ]

  Perform descriptive analyses of information gained, in terms of reported patient experience and understanding of HCP testing. The investigators will measure the time it takes to reach a diagnosis with panel testing as compared to the sum of the average turnaround time (based on measurements supplied by Myriad Genetics) for sequential testing of single candidate genes. Bayesian models will be developed to measure the effect of an HCP actionable mutation result or an HCP VUS results on the final differential diagnosis of the patient. The Bayesian paradigm allows one to update the likelihood or probability of the event under consideration as more information becomes available.

  In addition to the questionnaire that subjects will complete about their intent to undergo risk-reducing interventions (Specific Aim 5), subjects will also complete a questionnaire to measure concerns and psychosocial issues associated with genetic testing.

Original Secondary Outcome:

• Analyze frequency of genes found on HCP panel in high-risk population [ Time Frame: 3 years ]
  Summarize results of the HCP testing in terms of genes found with mutations and the frequency of mutation. The investigators will review expected versus actual off target or incidental findings from HCP testing. Off target findings will be classified into clinical actionable versus variants of uncertain significance. Incidence rates of off target mutations will be quantified and types of mutations will be qualitatively described.
• Follow medical management of subjects after multi-gene panel testing [ Time Frame: 5 years ]
  Summarize the medical management of these subjects - prior to testing after results disclosure of testing, and over the subsequent 5 years. The investigators will descriptively report changes to medical management from pre-cancer risk assessment and HCP testing and post-cancer risk assessment and HCP testing. For each patient, the investigators will determine whether the HCP result leads to a change in recommendation in regards to the risk reducing interventions and treatment.
• Descriptive analysis of patient information gained through process [ Time Frame: 5 years ]

  Perform descriptive analyses of information gained, in terms of reported patient experience and understanding of HCP testing. The investigators will measure the time it takes to reach a diagnosis with panel testing as compared to the sum of the average turnaround time (based on measurements supplied by Myriad Genetics) for sequential testing of single candidate genes. Bayesian models will be developed to measure the effect of an HCP actionable mutation result or an HCP VUS results on the final differential diagnosis of the patient. The Bayesian paradigm allows one to update the likelihood or probability of the event under consideration as more information becomes available.

  In addition to the questionnaire that subjects will complete about their intent to undergo risk-reducing interventions (Specific Aim 5), subjects will also complete a questionnaire to measure concerns and psychosocial issues associated with genetic testing.

Dates:
Date Received: December 14, 2014
Date Started: June 12, 2014
Date Completion:
Last Updated: April 8, 2017
Last Verified: April 2017