MyeloGen: Germline Testing for Predisposition to Myeloid Malignancies

Dana-Farber Cancer Institute

Overview

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.

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

Allocation

Purpose

HEALTH_SERVICES_RESEARCH

Masking

NONE

Conditions

Myeloid Malignancy Myeloid Malignancies Blood Cancer Blood Cancers

Interventions

Genetic Blood TestOTHER

Germline genetic testing using skin fibroblasts

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: Up to 63 months

Secondary Outcomes

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.

Time frame: At baseline

Participant Knowledge of Genetic Testing Post-Education

Time frame: 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.

Time frame: At baseline

Participant Satisfaction Score on GTS Survey 2

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.