SOLICITATION NOTICE
70 -- Human Genome Mutation Database (HGMD) Professional
- Notice Date
- 8/22/2014
- Notice Type
- Presolicitation
- NAICS
- 541519
— Other Computer Related Services
- Contracting Office
- Department of Health and Human Services, National Institutes of Health, National Heart, Lung and Blood Institute, Rockledge Dr. Bethesda, MD, Office of Acquisitions, 6701 Rockledge Dr RKL2/6100 MSC 7902, Bethesda, Maryland, 20892-7902
- ZIP Code
- 20892-7902
- Solicitation Number
- HHS-NIH-NHLBI-CSB-(HG)-2014-236-DLM
- Archive Date
- 9/17/2014
- Point of Contact
- Dorothy Maxwell, Phone: 301-435-0352
- E-Mail Address
-
maxwelld@mail.nih.gov
(maxwelld@mail.nih.gov)
- Small Business Set-Aside
- N/A
- Description
- INTRODUCTION: THIS IS A PRE-SOLICITATION NON-COMPETITIVE (NOTICE OF INTENT) SYNOPSIS TO AWARD A PURCHASE ORDER WITHOUT PROVIDING FOR FULL OR OPEN COMPETITION (INCLUDING BRAND-NAME). The National Heart, Lung, and Blood Institute (NHLBI) Office of Acquisition (OA) on behalf of the National Human Genome Research Institute, (NHGRI), intends to negotiate and award a purchase order on a noncompetitive sole source basis without providing for full and open competition to Biobase Corporation, 100 Cummings Center, Suote 107A, Beverly, MA 01915 to to provide: License Renewal--Human Gene Mutation Database (HGMD) Professional. (Brand Name: BioBase Corporation) ISSO and 508 Compliance has already been obtained on base contract for UPD Database Design. Procurement: 1. Human Gene Mutation Database (HGMD®) Professional MySQL data download - single IP, up to 4 users within the UDP Translational Lab; and 2. Human Gene Mutation Database (HGMD®) Professional MySQL data download - addition of second IP to the current license for Appistry St.Louise, restricted for the analysis of UDP Translational Lab. Background: The National Institutes of Health (NIH) mission is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability. The National Human Genome Research Institute (NHGRI) mission has expanded to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. To that end NHGRI supports the development of resources and technology that will accelerate genome research and its application to human health. A critical part of the NHGRI mission continues to be the study of the ethical, legal and social implications (ELSI) of genome research. NHGRI Undiagnosed Disease Program (UDP) is a trans-National Institute of Health (NIH) initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, MD. Many medical specialties from other NIH research centers and institutes contribute the expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics, among the dozens of participating senior attending physicians. A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Purpose and Objective: The Biobase HGMD (Human Gene Mutation Database) MySQL software has been integrated into the NIH Undiagnosed Disease Program exome analysis pipeline to determine disease-causing mutations for UDP patients and to allow for further experimental analysis. The UDP program makes use of a diverse set of diagnostic and research techniques both to attempt to find a diagnosis and to generate research projects to advance medical knowledge. BioBase HGMD software that is composed of highly organized and assembled data that has now been integrated with Ingenuity Variant Analysis that will help the UDP rapidly identify and prioritize possible disease causing variants. The UDP currently uses the HGMD software in their exome analysis pipeline and this technology will continue to support the research needs of the UDP to identify new and rare diseases. Justification: The Undiagnosed Diseases Program continues to require the use of HGMD (Human Gene Mutation Database) MySQL software to analyze mutational variants found by the exome or whole genome sequencing of UDP patients. The HGMD software has been integrated into the exome analysis pipeline to determine disease-causing mutations for the patients that come through the program, and allow for further experimental analysis. HGMD, developed and distributed solely by BioBase, is a unique resource that provides comprehensive data on human inherited disease mutations that enables NHGRI and Appistry to quickly access detailed reports for inherited disease mutations for NIH UDP Translational Lab data only without tedious and time-consuming literature searches, quickly and easily verify whether an observed mutation is novel or been previously described, understand the mutational spectrum of a particular disease or gene, analyze candidate genes for disease linkage and predisposition, and quickly prioritize mutations from whole exome or whole genome sequencing. Features of this software that are necessary for the bioinformatic research of patient mutations are as follows: • Must contain over 123,000 mutation reports including specifics on genome coordinates, sequence details and links to source and public resources; • Must contain over 4,400 summary reports listing all known inherited disease mutations for a given gene characterized by four discrete variant types; • Must allow for advanced search criteria that will offer the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, spice site, or regulatory region; and • Must have the ability to export customized mutation tracks for use in 3rd party genome browsers and analysis tools. Period of Performance: September 2014 through December 2016 Regulatory Authority: This acquisition is conducted under the authority of the Federal Acquisition Regulations (FAR) Subpart 13.106-1(b) Soliciting from a single source, only one responsible source and no other supplies or services will satisfy agency requirements. Additional Information: Industry Classification (NAICS) Code is 541519, Other Computer Related Services and the Small Business Size Standard is $25.5M. The acquisition is being conducted under FAR Part 13, simplified acquisition procedures, therefore the requirements of FAR Part 6 B Competitive Requirements are not applicable (FAR Part 6.001). The resultant Contract will include all applicable provisions and clauses in effect through the Federal Acquisition Circular (FAC) 05-76 (July 25, 2014). This requirement is under the SAT of $150,000.00. This synopsis is not a request for competitive proposals. However, interested parties may identify their interest and capability to respond to this notice. Responses to this notice shall contain sufficient information to establish the interested parties' bona-fide capabilities for fulfilling the requirement and include: unit price, list price, shipping and handling costs, the delivery period after contract award, the prompt payment discount terms, the F.O.B. Point (Destination or Origin), the Dun & Bradstreet Number (DUNS), the Taxpayer Identification Number (TIN), and the certification of business size. All offerors must have an active registration in the System for Award Management (SAM) www.sam.gov." A determination by the Government not to compete this proposed contract based upon responses to this notice is solely within the discretion of the Government. The information received will normally be considered solely for the purposes of determining whether to proceed on a non-competitive basis or to conduct a competitive procurement. All responses must be received by August 28, 2014 and must reference synopsis number HHS-NIH- NHLBI-CSB-(HG)-2014-236-DLM, may be submitted to the National, Heart, Lung and Blood Institute, Office of Acquisition, COAC Services Branch, 6701 Rockledge Drive, Suite 6149, Bethesda, Maryland 20892-7902, Attention: Dorothy Maxwell. Response may be submitted electronically to maxwelld@mail.nih.gov. Faxes will not be accepted. Responses will only be accepted if dated and signed by an authorized company representative. "All responsible sources may submit a bid, proposal, or quotation which shall be considered by the agency."
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