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MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies

Not Applicable
Withdrawn
Conditions
Myeloid Malignancy
Myeloid Malignancies
Blood Cancers
Blood Cancer
Interventions
Other: Genetic Blood Test
Registration Number
NCT06543511
Lead Sponsor
Dana-Farber Cancer Institute
Brief Summary

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.

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.

Recruitment & Eligibility

Status
WITHDRAWN
Sex
All
Target Recruitment
200
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 & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Germline Genetic TestingGenetic Blood TestParticipants 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.
Primary Outcome Measures
NameTimeMethod
Incidence Rate of Positive Genetic ResultsUp to 63 months

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.

Genetic Testing Completion RateUp to 63 months

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.

Secondary Outcome Measures
NameTimeMethod
Participant Satisfaction Score on GTS Survey 2Up to 130 days from baseline

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.

Multidimensional Impact of Cancer Risk Assessment (MICRA) ScoreUp to 130 days from baseline

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.

Detection Rate of Germline PredispositionUp to 63 months

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.

Impact of Genetic Results on Clinical Decision-MakingUp to 130 days from baseline

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.

Participant Knowledge of Genetic Testing Post-EducationAt baseline, following pre-educational video

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.

Participant Satisfaction Score on Genetic Testing Satisfaction (GTS) Survey 1At baseline

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.

Participant Knowledge of Genetic Testing Pre-EducationAt baseline

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.

Participant Decisional Regret ScoreUp to 130 days from baseline

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.

Trial Locations

Locations (2)

Dana-Farber Cancer Institute

🇺🇸

Boston, Massachusetts, United States

Brigham and Women's Hospital

🇺🇸

Boston, Massachusetts, United States

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