title: Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.
abstract: Quality assurance and quality control (QA/QC) procedures are vital to good biorepository management. The National Eye Institute (NEI) core CLIA-certified laboratory of the eyeGENE(®) Network receives blood from individuals with inherited eye conditions and isolates DNA for clinical genetic diagnostic testing and research. Clinical genetic test results are returned to the affected individuals, making it imperative that sample integrity is preserved throughout laboratory processing. A clinically validated, short tandem repeat (STR)-based approach, termed Sample Confirmation Testing (SCT), was developed to ensure that no significant laboratory errors occurred during processing. SCT uses modified protocols from commercial kits to create and compare STR profiles for each participant's original blood and derived DNA. This QA/QC procedure has been performed on 47% of the more than 6000 participants in the eyeGENE Biorepository and has identified significant laboratory errors in 0.4% of samples tested. SCT improves the quality of the data returned to affected individuals and the data distributed to researchers using eyeGENE samples by ensuring the integrity of the samples and aiding in curation of the biorepository. This approach serves as a model for other repositories to improve sample quality and management procedures.
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Rebecca S
authors.initials: RS
authors.lastname: Parrish
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Alexandra V
authors.initials: AV
authors.lastname: Garafalo
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Vida
authors.initials: V
authors.lastname: Ndifor
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Kerry E
authors.initials: KE
authors.lastname: Goetz
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Reeves
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Annette
authors.initials: A
authors.lastname: Yim
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Remy C
authors.initials: RC
authors.lastname: Cooper
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Jemma
authors.initials: J
authors.lastname: Iano-Fletcher
authors.affiliation: 1 Ophthalmic Genetics and Visual Function Branch, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Xinjing
authors.initials: X
authors.lastname: Wang
authors.affiliation: 2 Office of the Director, National Eye Institute/NIH , Bethesda, Maryland.
authors.forename: Santa J
authors.initials: SJ
authors.lastname: Tumminia
mesh_terms: D018070:Biological Specimen Banks; D005123:Eye / Q000378:metabolism*; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D018895:Microsatellite Repeats; D011786:Quality Control