1. Basic SOW Prevention Genetics v. July 2024.doc

OUTLINE FOR DEVELOPING A STATEMENT OF WORK (SOW)

STATEMENT OF WORK FOR PREVENTION GENETICS

1.

Introduction and Overview

Prevention Genetics is a CLIA-accredited laboratory that is uniquely able to provide genetic analysis and genetic sequencing of the tenascin X gene. It is the only US laboratory providing this service for this gene. It is also the only US laboratory offering screening for the chimera deletion 1.1 Background

In support of a clinical research project, we need to perform genetic analysis related to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Patients are being seen under the Natural History Study of Patients with Excess Androgens, Protocol # 06-CH-0011. A major goal of this study is to evaluate genetic causes associated with certain clinical conditions. We need to provide results to patients, thus we need to use a Clinical Laboratory Improvement Amendments (CLIA) certified lab. This requires sending blood to a CLIA certified commercial laboratory. Prevention Genetics is a CLIA-certified laboratory that offers genetic analysis and genetic sequencing of a gene of interest to our study and associated with CAH: the tenascin-X gene which lies next to the CAH gene. No other CLIA certified laboratory offers tenascin-X genetic analysis. We are interested in screening some patients for a contiguous gene deletion that involves both the CAH gene and the tenascin-X gene. This is referred to as a chimera deletion. Prevention Genetics offers screening for this genetic mutation and sequencing of the tenascin-X gene.

1.2

Scope of Work

The purpose of the work is to identify mutations that affect the tenascin-X gene. NIH will be responsible for obtaining blood specimens from patients under an IRB approved protocol and will be responsible for interpreting clinical implications of results.

1.3 Objectives

To evaluate genetic causes associated with certain clinical conditions.

1.4 Period of Performance

July 5, 2024- July 4, 2025

1.5 Projected Cost

$250 to $1990, depending on the analysis performed (targeting analysis vs. sequencing; clinical sequencing vs. research analysis). An estimate for up to 50 samples per year will be $40,000/year.

2.

References

All applicable documents referenced in this SOW are listed below. Where appropriate, a brief annotation should be provided to indicate the relevance of the document. Reference any specific requirements with regard to the use of these documents in performing the work under this SOW.

3.

Requirements

The laboratory CLIA certification is sufficient to ensure quality work and high standards. Blood and/or DNA will be shipped from NIH to Prevention Genetics according to the NIH regulations and via courier- per company standards. The laboratory must be CLIA certified 3.1 Tasks

The tasks to be performed under this contract shall be described in discrete functional areas, or subtasks, with each work area described clearly and completely. The Tasks description must provide sufficient detail that any BITS II Prime can understand the requirements, the methodology, and the outcomes and deliverables under the task.

The contractor shall conduct the following tasks:

3.2 End Results/Deliverables

Laboratory must provide a written report of the genetic analysis performed.

3.2.1 List of Deliverables by Task For large efforts, deliverables may be divided by subtask. The following table provides a complete listing of the required deliverables by task. The table includes, Task No. and Name, End Result/Deliverable, Tool for creating it, Acceptance Criteria, and Intended Use, as applicable.

The vendor contains long term storage of persons DNA that provides with sequencing and deletion/duplication test for all clinical relevant genes. The test for the specific protocol utilizes an interactive strategy via Sanger Sequencing to perform comprehensive evaluation to detect rate of pathogenic CYP21A2 variants.

3.3 Schedules/Milestones The contractor shall maintain a single project schedule from which various project reports shall be produced. The following reports shall be provided:

N/A

3.3.1 Who Does What When Report

The "Who does what when" report shall be provided by the contractor with the initial submission, and again following negotiations. This report will be used by the Government to assess the adequacy of the resources proposed by the contractor to accomplish the SOW.

Pediatrics sends samples to the vendor and within 4-6 weeks result are sent back to PEDS.

3.4 Other Considerations

Include here any other relevant information for the performance of the SOW that does not fit elsewhere.

· Program Management and Control Requirements

· The laboratory must be CLIA certified.

· Inspection and Acceptance Requirements

· The laboratory CLIA certification is sufficient to ensure quality work and high standards. Blood and/or DNA will be shipped from NIH to Prevention Genetics according to the NIH regulations and via courier- per company standards

4.

Progress/Compliance The Government requires the following from contractors in order to monitor progress and ensure compliance:

· Continual dialogue with vendor with results within 4-6 weeks followed by questions if applicable 5.

Transmittal/Delivery/Accessibility

The contractor shall provide [x] hard copies of each deliverable and one electronic version.

6.

Notes

If for reasons of clarity or brevity previous sections need further amplification, use this section for that purpose and for all other information that does not logically fit into previous sections. The information designed to assist in determining the applicability of the specification and the selection of appropriate type, grade, or class of the product or service.

Sole Source Justification: Prevention Genetics

Prevention Genetics is a CLIA-accredited laboratory that is uniquely able to provide genetic analysis and genetic sequencing of the tenascin X gene. It is the only US laboratory providing this service for this gene. It is also the only US laboratory offering screening for the chimera deletion.