UNIVERSAL GENETIC TESTING OF PATIENTS WITH HEMATOLOGICAL MALIGNANCIES (UGT)

We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study.

Study Overview

• Status: Not yet recruiting
• Conditions: Hematologic Disease
• Intervention / Treatment: Genetic: Genetic Testing for hematological malignancies

Detailed Description

Genetic data is transforming the understanding and management of cancers of all types.

The detection of pathogenic germline genetic variants (mutations) underlying the formation of cancer is important because the genetic information can inform optimal treatment for individuals with cancer and can be used to modify cancer risk in family members who are carriers for the variant but who have not developed cancer. Germline next generation sequencing (NGS) has only recently begun to be used to assess for hereditary risk in hematological malignancies (HM), and in particular beyond myeloid HMs. NGS detects small genetics changes such single base substitutions and small deletions, whereas a new technique called optical genome mapping (OGM) is able to detect large structural genetic changes in tumor DNA. OGM is well established here in Molecular Pathology but has only recently been applied to the study of HMs.

We propose to perform NGS and OGM with DNA extracted from bone marrow (BM; site of cancer) and NGS on skin fibroblast DNA (proxy for germline) on all patients with hematologic malignancies (HM) who undergo a standard-of-care BM biopsy at Georgia Cancer Center/Wellstar MCG Health. Simultaneous 4 mm punch skin biopsy for fibroblast culture will be obtained at the planned puncture site of the BM biopsy. The bone marrow biopsy and aspirate are already part of the patient's scheduled medical evaluation and the punch biopsy of the skin is the only additional procedure involved in the study. We will compare BM and germline variants in order to determine their rate and concordance, examine the percent of germline variants that are likely to be the cause of the HM, assess the impact of the germline finding on treatment choices, and determine the impact of germline findings on family members. New data from OGM will be compared to NGS

• Study Type: Interventional
• Enrollment (Estimated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: James T Sonnenberg, BS; Phone Number: 9106192597; Email: jsonnenberg@augusta.edu
• Study Contact Backup: Name: Eleanor Reeves, BS; Phone Number: 7067210730; Email: EREEVES@augusta.edu

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

- a. Age ≥ 18 years of age. b. A new diagnosis of HM. c. Diagnostic bone marrow to be performed at Wellstar MCG Health/Georgia Cancer Center.

d. Ability and willingness to provide informed consent in English to undergo skin biopsy for fibroblast culture and NGS for comparison with the BM NGS.

Exclusion Criteria:

• There are no exclusion criteria.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• 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: genetic testing for hematological malignancies; Single arm study for patients with hematological malignancies who agree to genetic testing.	Genetic: Genetic Testing for hematological malignancies; combined skin punch biopsy/BM aspiration technique, followed by NGS and OGM.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of all patients with hematological malignancies who agree to undergo genetic testing	The primary endpoint will be the percentage of all patients with newly diagnosed HMs who undergo BM/fibroblast DNA NGS testing.	5 years

Collaborators and Investigators

• Sponsor: Augusta University
• Investigators: Principal Investigator: John Henson, MD, Medical College of Georgia at Augusta University

Study record dates

Study Major Dates

• Study Start (Estimated): February 1, 2025
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): February 1, 2029

Study Registration Dates

• First Submitted: February 20, 2025
• First Submitted That Met QC Criteria: February 20, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 20, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Keywords: hematological malignancies; Genetic testing
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Hematologic Neoplasms; Hematologic Diseases
• Other Study ID Numbers: 2218223

Drug and device information, study documents

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