{"abstract":"The Food and Drug Administration (FDA or Agency) is announcing the availability of the final guidance entitled \"Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases; Guidance for Stakeholders and Food and Drug Administration Staff.\" FDA's vision is that NGS- based tests can be developed, validated, and offered for clinical use through a process that leverages appropriate standards, quality systems controls, and community assessment of clinical validity to streamline the premarket review process. This guidance provides recommendations for designing, developing, and establishing analytical performance for NGS-based tests used for whole exome human DNA sequencing (WES) or targeted human DNA sequencing intended to aid in the diagnosis of symptomatic individuals with suspected germline diseases or other conditions. These recommendations are based on FDA's understanding of the tools and processes needed to run an NGS-based test along with the design and analytical validation considerations appropriate for such tests.","action":"Notice of availability.","agencies":[{"raw_name":"DEPARTMENT OF HEALTH AND HUMAN SERVICES","name":"Health and Human Services Department","id":221,"url":"https://www.federalregister.gov/agencies/health-and-human-services-department","json_url":"https://www.federalregister.gov/api/v1/agencies/221","parent_id":null,"slug":"health-and-human-services-department"},{"raw_name":"Food and Drug Administration","name":"Food and Drug Administration","id":199,"url":"https://www.federalregister.gov/agencies/food-and-drug-administration","json_url":"https://www.federalregister.gov/api/v1/agencies/199","parent_id":221,"slug":"food-and-drug-administration"}],"body_html_url":"https://www.federalregister.gov/documents/full_text/html/2018/04/13/2018-07687.html","cfr_references":[],"citation":"83 FR 16106","comment_url":null,"comments_close_on":null,"correction_of":null,"corrections":[],"dates":"The announcement of the guidance is published in the Federal Register on April 13, 2018.","disposition_notes":null,"docket_ids":["Docket No. FDA-2016-D-1270"],"dockets":[],"document_number":"2018-07687","effective_on":null,"end_page":16108,"executive_order_notes":null,"executive_order_number":null,"explanation":null,"full_text_xml_url":"https://www.federalregister.gov/documents/full_text/xml/2018/04/13/2018-07687.xml","html_url":"https://www.federalregister.gov/documents/2018/04/13/2018-07687/considerations-for-design-development-and-analytical-validation-of-next-generation-sequencing-based","images":{},"images_metadata":{},"json_url":"https://www.federalregister.gov/api/v1/documents/2018-07687?publication_date=2018-04-13","mods_url":"https://www.govinfo.gov/metadata/granule/FR-2018-04-13/2018-07687/mods.xml","not_received_for_publication":null,"page_length":3,"page_views":{"count":1709,"last_updated":"2026-04-04 12:15:04 -0400"},"pdf_url":"https://www.govinfo.gov/content/pkg/FR-2018-04-13/pdf/2018-07687.pdf","presidential_document_number":null,"proclamation_number":null,"public_inspection_pdf_url":"https://public-inspection.federalregister.gov/2018-07687.pdf?1523537127","publication_date":"2018-04-13","raw_text_url":"https://www.federalregister.gov/documents/full_text/text/2018/04/13/2018-07687.txt","regulation_id_number_info":{},"regulation_id_numbers":[],"regulations_dot_gov_info":{"supporting_documents":[],"comments_url":"https://www.regulations.gov/docketBrowser?rpp=50&so=DESC&sb=postedDate&po=0&dct=PS&D=FDA-2016-D-1270","supporting_documents_count":0,"docket_id":"FDA-2016-D-1270","regulation_id_number":null,"title":"Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases","checked_regulationsdotgov_at":"2018-05-03T10:00:18Z"},"regulations_dot_gov_url":null,"significant":null,"signing_date":null,"start_page":16106,"subtype":null,"title":"Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing-Based In Vitro Diagnostics Intended To Aid in the Diagnosis of Suspected Germline Diseases; Guidance for Stakeholders and Food and Drug Administration Staff; Availability","toc_doc":"Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing-Based In Vitro Diagnostics Intended to Aid in the Diagnosis of Suspected Germline Diseases","toc_subject":"Guidance:","topics":[],"type":"Notice","volume":83}