MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies

This research study is evaluating the feasibility of conducting cancer genetic testing using healthy skin cells among participants with a diagnosis of a blood cancer. Additionally, investigators will evaluate how often participants with blood cancers are found to have risk for cancer based on family genes.

Study Overview

• Status: Withdrawn
• Conditions: Myeloid Malignancy; Blood Cancer; Blood Cancers; Myeloid Malignancies
• Intervention / Treatment: Other: Genetic Blood Test

Detailed Description

The purpose of this prospective, non-randomized, non-therapeutic, single arm study is to determine the feasibility and benefit of performing genetic testing for all participants with a blood cancer diagnosis regardless of clinical suspicion.

Research study procedures include screening for eligibility, in-clinic visits, questionnaires, and skin punch biopsies. Participants will receive germline genetic testing with a comprehensive hereditary cancer gene panel.

It is expected that about 200 individuals with blood cancer will take part in this research study.

• Study Type: Interventional
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Dana-Farber Cancer Institute
    • Boston, Massachusetts, United States, 02215
      • Brigham and Women's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Age of 18 years or older
• Participants must have histologically confirmed myeloid malignancy OR bone marrow failure within the last 6 months prior to screening.
• Ability to understand and provide a signed and completed consent document in English or Spanish.

Exclusion Criteria:

• Patients with who cannot safely undergo skin biopsy as adjudicated by the study team.
• Patients who have previously undergone germline genetic testing for predisposition to myeloid malignancies

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Health Services Research
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Germline Genetic Testing; Participants will be enrolled and will complete study procedures as follows: Baseline visit with educational video and questionnaires.; Skin punch biopsy.; Genetic testing results.; Surveys and questionnaires.; Follow up via medical records for up to 2 years from time of study consent.	Other: Genetic Blood Test; Germline genetic testing using skin fibroblasts; Other Names: Custom Hereditary Cancer Gene Panel

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genetic Testing Completion Rate	Feasibility is defined as a minimum of 75% of consented participants complete germline genetic testing with the return of test results within 10 weeks of study consent.	Up to 63 months
Incidence Rate of Positive Genetic Results	Defined as the proportion of participants with a "positive" result on the germline genetic testing. Positive results equal Variants classified as Pathogenic (P), Likely pathogenic (LP), or Variants of Uncertain Significance (VUS) with supporting pathogenic criteria.	Up to 63 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Participant Knowledge of Genetic Testing Pre-Education	Assessed by the KnowGene6 questionnaire, a 6-question survey assessing participant understanding of inherited genetic risk. Responses will be summarized by question and the number of correct answers will be compared.	At baseline
Participant Knowledge of Genetic Testing Post-Education	Assessed by the KnowGene6 questionnaire, a 6-question survey assessing participant understanding of inherited genetic risk. Responses will be summarized by question and the number of correct answers will be compared.	At baseline, following pre-educational video
Participant Satisfaction Score on Genetic Testing Satisfaction (GTS) Survey 1	Assessed by the Genetic Testing Satisfaction (GTS) 1, a 10-item measure rated on a 5-point scale from 1 "Strongly Disagree" to 5 "Agree Strongly" with a total scores range of 10 to 50. A higher score represents greater participant satisfaction.	At baseline
Participant Satisfaction Score on GTS Survey 2	Assessed by the Genetic Testing Satisfaction (GTS) 2, a 10-item measure rated on a 5-point scale from 1 "Strongly Disagree" to 5 "Agree Strongly" with a total scores range of 10 to 50. A higher score represents greater participant satisfaction.	Up to 130 days from baseline
Multidimensional Impact of Cancer Risk Assessment (MICRA) Score	Assessed by the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire to measure the psychological impact of testing over the past week, and comprised of 25 question which are rated on a 4-point scale from 1 "Never" to 4 "Often" with a total scores range of 25 to 100. A higher score represents greater psychological impact.	Up to 130 days from baseline
Participant Decisional Regret Score	Assessed by the Decisional Regret Survey to measure the degree of participant regret in choosing to undergo germline genetic testing, and comprised of 5 questions rated on a 5-point scale from 1 "Strongly Agree" to 5 "Strongly Disagree" with a total scores range of 5 to 25. A higher score represents greater regret.	Up to 130 days from baseline
Detection Rate of Germline Predisposition	Defined as the number of participants with an identified germline predisposition on genetic testing who would not have met National Comprehensive Cancer Network (NCCN) guideline-based germline genetic testing recommendations.	Up to 63 months
Impact of Genetic Results on Clinical Decision-Making	Assessed by the Primary Clinician Survey, a 5-question survey including 4 questions with graded answers (Strongly Agree, Agree, Neither, Disagree, Strongly Disagree) and 1 free text question for overall study feedback.	Up to 130 days from baseline

Collaborators and Investigators

• Sponsor: Dana-Farber Cancer Institute
• Investigators: Principal Investigator: Christopher Reilly, MD, Dana-Farber Cancer Institute

Study record dates

Study Major Dates

• Study Start (Estimated): July 29, 2024
• Primary Completion (Estimated): July 1, 2028
• Study Completion (Estimated): July 1, 2029

Study Registration Dates

• First Submitted: August 5, 2024
• First Submitted That Met QC Criteria: August 5, 2024
• First Posted (Actual): August 9, 2024

Study Record Updates

• Last Update Posted (Estimated): November 22, 2024
• Last Update Submitted That Met QC Criteria: November 20, 2024
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: Myeloid Malignancies; Blood Cancer; Myeloid Malignancy; Blood Cancers
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Site; Disease Attributes; Hematologic Diseases; Neoplasms; Hematologic Neoplasms; Disease Susceptibility
• Other Study ID Numbers: 24-087

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: The Dana-Farber / Harvard Cancer Center encourages and supports the responsible and ethical sharing of data from clinical trials. De-identified participant data from the final research dataset used in the published manuscript may only be shared under the terms of a Data Use Agreement. Requests may be directed to: [contact information for Sponsor Investigator or designee]. The protocol and statistical analysis plan will be made available on Clinicaltrials.gov only as required by federal regulation or as a condition of awards and agreements supporting the research.
• IPD Sharing Time Frame: Data can be shared no earlier than 1 year following the date of publication
• IPD Sharing Access Criteria: Contact the Belfer Office for Dana-Farber Innovations (BODFI) at innovation@dfci.harvard.edu
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No