Blood Cancer, Blood Cancers, Myeloid Malignancies, Myeloid Malignancy
Conditions
Keywords
Myeloid Malignancy, Myeloid Malignancies, Blood Cancer, Blood Cancers
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.
Interventions
OTHERGenetic Blood Test
Germline genetic testing using skin fibroblasts
Sponsors
Dana-Farber Cancer Institute
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetic Testing Completion Rate | Up 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. |
| Incidence Rate of Positive Genetic Results | Up 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Participant Satisfaction Score on Genetic Testing Satisfaction (GTS) Survey 1 | At 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 Satisfaction Score on GTS Survey 2 | Up 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) Score | Up 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. |
| Participant Knowledge of Genetic Testing Pre-Education | At 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. |
| Detection Rate of Germline Predisposition | Up 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-Making | Up 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 Decisional Regret Score | Up 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. |
| Participant Knowledge of Genetic Testing Post-Education | At 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. |
Outcome results
None listed