2  HHM Clinics at VUMC

Hereditary Hematologic Malignancies clinic at Vanderbilt University Medical Center

Published

August 19, 2026

2.1 Overview

This chapter documents the operational planning for the Hereditary Hematologic Malignancies (HHM) clinic at Vanderbilt University Medical Center (VUMC). It captures the people involved, germline testing options and panel content, genetic counseling resources, tissue-sourcing considerations, external clinics used as models, and the proposed clinic-establishment framework.

NoteWorking document

This is a living planning reference and is updated each quarter. Details (panel selection, scheduling, vendor choice) are being finalized and may change.

2.2 People Involved

  • Kate Fedorov — Division of Hematology and Oncology, VUMC
  • Ashwin Kishtagari — Division of Hematology and Oncology, VUMC

2.3 Genetic Counselors

  • Meredith A. Gerhart — Genetic Counselor, VUMC
  • Katie Lang — Genetic Counselor, VUMC

There is also a tele-medicine genetic counseling group that can be engaged for remote counseling capacity (Dr. DiNardo to send contact details).

TipBilling nuance

Genetic counselors typically conduct telehealth (TH) visits and cannot bill independently under current arrangements. The clinic model below pairs the counselor with a physician segment so the encounter is billable (see Section 2.7).

2.4 Panels for Testing

Several germline panels are under consideration. The PreventionGenetics Hereditary MDS/AML panel is a 12-gene next-generation sequencing test with copy number analysis, with a 2-3 week turnaround and flexibility in accepted specimen types.

Table 2.1: Candidate germline testing panels under consideration for the HHM clinic.
Vendor Panel Method Turnaround Notes
PreventionGenetics Hereditary MDS / AML Panel (12 genes) NGS with CNV (exome or genome platform) 2-3 weeks (6-12 days STAT) Accepts blood, DNA, buccal, saliva, tissue (exome platform); now an Exact Sciences subsidiary
University of Chicago Hereditary Hematologic Malignancies (UCM HHM) Panel NGS + array CGH Varies Academic reference laboratory; CAP-certified, CLIA-licensed
Invitae Hematology / hereditary cancer panels NGS Varies Now operating under Labcorp following 2024 acquisition
AiLife Diagnostics Genetic testing menu (GTR lab profile) NGS (CAP/CLIA lab) Varies Texas-based lab (Pearland, TX); director Yaping Yang, PhD, FACMG; CLIA 45D2157396

2.4.1 PreventionGenetics MDS/AML panel - gene content

The panel covers 12 genes associated with hereditary myelodysplastic syndrome and acute myeloid leukemia predisposition.

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Figure 2.1: The 12 genes on the PreventionGenetics Hereditary MDS/AML panel, grouped by functional theme.

Full gene list: ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SAMD9, SAMD9L, SRP72, TERC, TERT, TP53.

NoteRUNX1-FPD

RUNX1 familial platelet disorder with predisposition to myeloid malignancy (RUNX1-FPD) is a key syndrome for this clinic and is captured on each candidate panel. Detailed surveillance and management are addressed in the disease-specific chapters.

2.5 Tissue for Germline Testing

Choosing the right specimen is essential for accurate germline results, particularly in patients with a hematologic malignancy where blood- or saliva-derived DNA may be contaminated by the malignant clone.

  • Preferred: DNA extracted from cultured skin fibroblasts obtained via skin biopsy. This avoids hematopoietic contamination.
  • Challenging specimens: hair follicles and nail clippings - the majority of vendors do not process these, which limits their practical use.
  • Vendor note: per Dr. DiNardo, Invitae has historically been the strongest vendor for fibroblast-based germline testing (note the post-acquisition Labcorp transition when planning).
Table 2.2: Germline specimen sources and practical considerations.
Specimen Preference Consideration
Cultured skin fibroblasts Preferred Avoids hematopoietic clone contamination; requires skin biopsy + culture
Peripheral blood / saliva Use with caution Risk of contamination by malignant clone in hematologic malignancy
Hair follicles Limited Most vendors do not process
Nail clippings Limited Most vendors do not process

2.6 Modeling Clinics Outside VUMC

To inform clinic design, we are drawing on established programs elsewhere.

  • Courtney DiNardo (MD Anderson) - consulted August 11, 2025. Source of guidance on tele-genetic-counseling resources and fibroblast-based germline testing vendors.

2.7 Clinic Establishment Framework

The proposed operational model balances clinic capacity, counselor and physician time, and billing requirements.

  • Cadence & slots: Tuesday afternoons, 4-5 one-hour slots, every 2 weeks.
  • Visit structure: 45 minutes with the genetic counselor + 15 minutes with the physician, structured so the encounter is a billable visit (counselors generally perform telehealth visits and cannot bill independently).
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Figure 2.2: Proposed one-hour visit structure: genetic counselor segment followed by a physician segment to support billing.

2.7.1 Capacity at a glance

At 4-5 slots per session and two sessions per month, the clinic can see roughly 9 patients per month (~108 per year) at full utilization, before accounting for cancellations or follow-up load.

2.8 Open Items

  • Finalize panel/vendor selection (PreventionGenetics vs. University of Chicago vs. Invitae/Labcorp), weighing gene content, fibroblast handling, turnaround, and cost.
  • Obtain tele-genetic-counseling group contact (pending from Dr. DiNardo).
  • Confirm billing structure for the counselor + physician visit model.
  • Define cascade (family) testing workflow for adult and pediatric relatives.
  • Establish surveillance protocols for asymptomatic carriers.