SOW NIAID CSP-Childrens Mercy Long Read 20250501_Final.pdf

STATEMENT OF WORK (SOW)

TITLE: Clinical Long Read Genomics services for the NIAID Centralized Sequencing Program

1) BACKGROUND INFORMATION

The National Institute of Allergy and Infectious Diseases (NIAID) Division of Intramural Research (DIR) scientists study all aspects of infectious diseases, including the causative agent, vectors, and pathogenesis in human and animal hosts. Clinical research is an integral part of this mission, enabling key lab discoveries to be rapidly translated into methods to prevent, diagnose, or treat disease. DIR researchers annually conduct more than 200 clinical trials at the NIH Clinical Center on the Bethesda, Maryland, campus and at collaborating U.S.

and international sites.

In support of clinical research, the NIAID Centralized Sequencing Program (CSP) is comprehensive program that obtains genetic testing, harmonizes phenotypic and genomic data, performs variant interpretation, and provides clinically validated results for participants enrolled in a diverse set of protocols at the NIH Clinical

Center. The goal of the NIAID CSP is both to contribute to the understanding of underlying genetic etiology of disease and to address the clinical need for genomic evaluations.

2) PURPOSE AND OBJECTIVES OF THE ACQUISITION

The purpose of this acquisition is to support the mission of DIR to obtain genetic testing for the NIAID CSP.

The objective is to purchase both symptom-driven long read sequencing analysis and targeted long read sequencing. The results of this testing will have direct implications for the care of NIH patients and for the discovery of disease mechanisms.

Period of Performance: One 12-month period

3) SCOPE:

The scope of this effort includes the services and industry knowledge necessary to provide long read sequencing as specified in this SOW.

4) CONTRACTOR REQUIREMENTS:

Targeted Long Read Sequencing– report generation and delivery (N = 12)

Long Read Symptom-Driven Analysis testing (N = 6)

Contractor skills, capacity, and expertise:

1. Contractor displays demonstrated expertise in genetics and genomics and capacity to complete long read genome sequencing.

2. Strong communication and project management skills

5) CONTRACTOR DESIRED DELIVERABLES

Desired Deliverables for Targeted Clinical Long Read Sequencing:

1. Demonstrated consistent recent high-quality data

2. Data transfer through secure method

3. Provision of QC information regarding data quality. Specifically, measures of read quality, median coverage, etc.

4. Provision of sample data upon request, e.g., NA12878, to aid in assessment of control data quality

Desired deliverables for Long Read Symptom-Driven Analysis testing:

1. Analysis and reporting of:

a. SNVs (Single Nucleotide Variants) and CNVs (Copy Number Variations)

b. Pseudogene clarification

c. Methylation analysis

d. Repeat expansion analysis

2. Demonstrated consistent recent high-quality data

3. Data transfer through secure method

4. Provision of QC information regarding data quality. Specifically, measures of read quality, median coverage, etc.

5. Provision of sample data upon request, e.g., NA12878, to aid in assessment of control data quality

6) CONTRACTOR SUPPLIED MATERIALS

The Contractor shall provide all consumable reagents necessary for sequencing except those mentioned below.

7) GOVERNMENT FURNISHED MATERIALS

If genomic DNA samples are used, NIAID will deliver them.

8) REPORTING REQUIREMENTS AND DELIVERABLES FOR CLINICAL TARGETED LONG

READ SEQUENCING:

Upon start of award, contractor and government team will be required to hold an orientation briefing/kick-off meeting during which specific workflows for sample quantity, volume, concentration range, and quality be reviewed. All controlled vocabulary regarding sample and individual information be covered, as well as processes for submitting orders, tracking order progress, communication about samples, and downloading clinical reports and possibly data. Timely follow up for questions related to contract is to be completed via targeted meetings and/or email communication.

Contractor reviews and confirms manifests sent with samples and receipt of samples. Issues with samples due to quality and/or quantity, identity issues, mismatch with manifests, and other issues preventing samples from moving forward in sequencing pipeline be communicated to NIH within 48 hours. Known process issues within contractor lab can be resolved without prior approval from NIH.

9) INSPECTION AND ACCEPTANCE

All deliverables will be inspected by the project manager, a Government employee of the Division of Intramural

Research. Acceptance will occur when results are successfully transferred to NIH per the specifications and format outline in the requirements above.