Request for information on tertiary data analysis software for reporting somatic and/or germline genetic alterations

REQUEST FOR INFORMATION This is not a call for tenders and does not obligate the Acquisition Unit of the Joint Authority of the Helsinki and Uusimaa Hospital District for any actions. The responses to this information request do not obligate the acquisition unit to any material or service acquisitions. This document ic a request for information, not a procurement notice or a request for tender. This request for information is not binding on the Helsinki and Uusimaa Hospital District. PRESENTATION OF THE CONTRACTING AUTHORITY HUSLAB Laboratory of Genetics at HUS (Helsinki University Hospital) Diagnostic Center is an SFS-EN ISO 15189:2013 accredited laboratory providing diagnostic genetic testing services to all patients at Helsinki University Hospital area. The services include analysis of both constitutional samples and malignancies. The laboratory provides sequencing services mainly using local HUSLAB sequencing capacity (Illumina NovaSeq 6000, Ion Torrent S5 and Ion Torrent Proton equipment). HUSLAB also provides array-CGH-based diagnostics using CNV and CNV+SNP arrays. THE PURPOSE OF THE REQUEST FOR INFORMATION HUSLAB is seeking a data analysis software for analyzing and reporting germline and somatic genetic alterations covering whole genome, whole exome and/or genes with the most common clinically relevant alterations (e.g. gene panels). This request for information is intended for data analysis solutions for both constitutional and somatic diseases. However, a provider’s data analysis software does not have to be capable of both analysis types in order to respond to this information request. The data analysis software should be able to report SNVs, indels, copy number variations (CNVs) and regions of loss of heterozygosity (LOH) to detect uniparental disomy (UPD). Specifically for somatic analysis, requirements also include reporting of gene fusions, microsatellite instability (MSI), homologous recombination deficiency (HRD), and tumor mutation burden (TMB). Tests are based on analysis of total nucleic acids (RNA and DNA) extracted from tissue or blood samples using next generation sequencing (NGS) on either Ion Torrent or NovaSeq 6000 sequencers as well as array-CGH based data. RESPONSES TO THE REQUEST FOR INFORMATION Responses are requested to be submitted in writing by 12th of March 2024 at 12.00 (utc +2), e-mail, to kilpailutus.ict@hus.fi Please title the response as follows: "HUS 101-2024 Response to request for information on tertiary data analysis software for reporting somatic and/or germline genetic alterations" We ask companies interested in this procurement to answer the following questions and requests listed below. The questions have been categorized into general questions (Section 1), questions related to germline analysis (Section 2a), and questions related to somatic analyses (Section 2b). Please respond to Section 1 and either Section 2a or Section 2b. If your software is capable of both types of analyses, please respond to all sections. The response to the information request should be submitted by completing the form attached to the information request to the address specified in the request. No other changes should be made to the attachment. If you have any additional questions or need further information, feel free to reach out. Responses from suppliers will be treated confidentially.