Genetic Predisposition to Disease, Myeloid Hematological Malignancies, Myeloid Malignancy
Conditions
Keywords
Myeloid Malignancies, Genetic Predisposition to Disease
Brief summary
The goal of this research study is to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants diagnosed with myeloid malignancies.
Detailed description
This prospective, single arm study aims to evaluate the feasibility of germline genetic testing using the investigational MyeloGen Gene Panel in adult participants diagnosed with myeloid malignancies. Investigators hope to learn how to best incorporate routine genetic testing in clinical care for participants with blood cancers, regardless of personal or family history of blood cancer. The research study procedures include screening for eligibility, in-clinic visits, questionnaires, and punch skin biopsies. It is expected that about 200 people will take part in this research study. The laboratory sponsor of this protocol is Broad Clinical Laboratory.
Interventions
DEVICEMyeloGen Gene Panel
The MyeloGen Gene Panel is investigational Germline genetic testing using skin fibroblasts.
Sponsors
Christopher Reilly
Broad Institute of MIT and Harvard
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
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.
Exclusion criteria
* Participants who cannot safely undergo clinically indicated skin biopsy as adjudicated by the study team. * Participants who have previously undergone germline genetic testing for predisposition to myeloid malignancies
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Successful Completion Rate | Up to 10 weeks | Successful completion rate of germline genetic testing will be defined as the proportion of participants who return genetic test results within 10 weeks of study consent, which would require there be no excessive delays in obtaining a skin biopsy. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants with Positive Results | Up to 12 weeks | A "positive" result indicating a pathogenic or likely pathogenic variant was detected. This will also include Variants of Unknown Significance (VUSs) with supporting pathogenic criteria per American College of Medical Genetics guidelines (ACMG). |
| Patient Reported Outcome of Germline Genetic Testing based on GST Survey | Up to 60 days | Participants will complete the GST survey 1 (after the educational video and skin biopsy) and GST survey 2 between 45-60 days after disclosure of genetic test results. GST survey answers will be converted to a 5-point scale: 1- Disagree strongly, 2-Disagree, 3-Neither Agree or Disagree, 4-Agree, 5- Agree strongly. |
| Number of Participants with an Identified Germline Predisposition on Generic Testing Who Haven't Met NCNN Guideline-based Germline Genetic Testing Recommendations | Up to 12 weeks | NCCN guideline-based eligibility for germline genetic testing will be assessed using the following criteria and manual review of participants' medical record, 1) Participants with Myelodysplastic Syndrome (MDS) or Acute Myeloid Leukemia (AML) less than age 50, 2) Hypoplastic MDS regardless of age; 3) History of aplastic anemia, 4) Documented suspicion of a possible germline predisposition to myeloid malignancies. |
Countries
United States
Contacts
CONTACTChristopher R Reilly, MD
PRINCIPAL_INVESTIGATORChristopher R Reilly, MD
Dana-Farber Cancer Institute
Outcome results
None listed