UChicago Testing Statement of Work SOW.pdf

Statement of Work (SOW)

1. Project Title

NHLBI Clinical Division Genetic Testing and Next Generation Sequencing Services for Active Clinical Protocols- bone marrow failure syndromes, aplastic anemia, myeloid neoplasms, clonal hematopoiesis, and related hematologic disorders

2. Introduction and Background

The Division of Intramural Research (DIR) of the National Heart, Lung, and Blood Institute (NHLBI) possess a strong clinical research program whose mission is to advance the detection, diagnosis, and treatment of cardiovascular, pulmonary, and hematologic-related diseases in humans. This mission entails administration of clinical trials that can later be translated into broad clinical practice, thus enabling advances in basic science to impact public health. The DIR takes full advantage of its basic and translational research environment in which patients can be studied intensively to gain valuable pathophysiologic insights coupled with basic, bench research to uncover fundamental mechanisms and functions.

The DIR’s clinical protocol portfolio is comprised of more than 160 active Phase 0/I/II/III interventional therapy, observational/natural history, and cardiovascular imaging protocols.

Approximately 30% of these protocols involve Investigational New Drug (IND) or Investigational Device Exceptions (IDE), the majority of which are held within the DIR.

Accurate identification of inherited genetic mutations is essential to patient diagnosis, clinical management, family counseling, risk stratification, and ongoing research efforts. Therefore, the Clinical Division requires access to specialized clinical laboratory testing services capable of performing comprehensive germline genetic analysis on patient specimens collected under NHLBI-approved clinical research protocols.

3. Statement of Need and Objectives

The NHLBI Clinical Division requires contractor support to perform comprehensive germline genetic testing using validated Next Generation Sequencing methodologies for the detection and characterization of inherited genetic variants associated with bone marrow failure syndromes, aplastic anemia, myeloid neoplasms, clonal hematopoiesis, and related hematologic disorders.

The objective of this requirement is to provide Clinical Division investigators with access to a clinically validated sequencing panel that evaluates genes known to be associated with inherited bone marrow failure and hematologic disease predisposition syndromes.

Testing services shall support patient care, clinical research, genetic diagnosis, and translational investigations conducted throughout the NHLBI Clinical Division.

4. Product Specifications/Features/Salient Characteristics

The Contractor shall provide a validated Next Generation Sequencing assay capable of analyzing approximately 111 genes known to be associated with hematologic malignancies, inherited bone marrow failure syndromes, and related disorders.

At a minimum, the assay shall include:

• Complete sequence analysis of coding regions of genes included in the testing panel.

• Analysis of the 5' untranslated regions (UTRs) of ANKRD26, DKC1, TERC, and TERT.

• Analysis of clinically relevant pathogenic variants in GATA2 and other genes included within the validated panel.

• Coverage of all coding exons and applicable flanking intronic sequences necessary for variant detection.

• Target enrichment utilizing validated capture technologies and custom probes, as required.

• DNA sequencing performed using Illumina or equivalent next-generation sequencing technology with paired-end sequencing capability.

• Alignment and analysis using validated bioinformatics pipelines and reference genome standards.

• Supplemental Sanger sequencing or equivalent orthogonal confirmation methods to resolve regions of poor coverage and to confirm pathogenic and likely pathogenic variants.

• Generation of clinical reports identifying pathogenic, likely pathogenic, and other clinically significant variants in accordance with accepted clinical laboratory standards.

The Contractor's laboratory shall maintain all applicable clinical laboratory certifications and accreditations required to perform clinical genetic testing services.

5. General Contractor Responsibilities

The Contractor shall:

1. Provide specimen collection kits, shipping materials, packaging instructions, and associated documentation necessary for specimen submission.

2. Provide prepaid shipping materials or instructions for shipment of blood, bone marrow, or other approved specimens from NHLBI-designated locations.

3. Receive, accession, process, and analyze submitted specimens.

4. Perform germline genetic testing using validated Next Generation Sequencing methodologies.

5. Conduct all required quality control and quality assurance procedures.

6. Confirm clinically significant findings using validated orthogonal testing methods when required by laboratory procedures.

7. Generate and maintain test reports for each submitted specimen.

8. Provide secure electronic access to finalized reports through a password-protected web portal or equivalent secure reporting system.

9. Provide technical consultation regarding test methodology, interpretation, and reporting when requested by authorized NHLBI personnel.

10. Maintain specimen and patient information confidentiality in accordance with all applicable federal laws, regulations, and laboratory standards.

6. Delivery or Performance Location

Results will be delivered to the requesting NHLBI laboratory. Contact information will be provided by the COR at the time of request.

Work shall be performed at the University of Chicago Genetics Services Laboratory located at:

5841 S. Maryland Ave., Rm. G701, MC 0077 Chicago, Illinois 60637

7. Delivery Date

The service will be performed at the University of Chicago Genetics Services Laboratory with a period of performance of a one (1) year Base Year with four (4) one year Option Years.

8. Inspection and Acceptance

Inspection and acceptance shall be performed by the requesting NHLBI lab following completion of the required testing services and review of the accompanying report.

9. Point of Contact

To be provided upon award.

10. Security

The Contractor shall comply with all applicable federal, state, and local requirements governing protection of patient information and clinical laboratory records.

The Contractor shall maintain appropriate administrative, technical, and physical safeguards to protect sensitive information and ensure confidentiality of all patient-related data.

11. Government Furnished Property (GFP) and Government Furnished Information (GFI)

Government will provide blood and bone marrow samples for testing.