Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

Kalman, Lisa V.; Wilson, Jean Amos; Buller, Arlene; Dixon, Jonathon; Edelmann, Lisa; Geller, Louis; Highsmith, W. Edward; Holtegaard, Leonard M.; Kornreich, Ruth; Rohlfs, Elizabeth M.; Payeur, Toby L.; Sellers, Tina; Toji, Lorraine; Muralidharan, Kasinathan

doi:10.2353/jmoldx.2009.090050

Cited by 10 publications

(10 citation statements)

References 30 publications

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“…Coinciding with the expansion of AJ carrier screening panels has been the continued development and clinical evaluation of multiplexed genotyping platforms [Edelmann et al, 2004; Fares et al, 2008; Kalman et al, 2009; Schrijver et al, 2007; Strom et al, 2004; Strom et al, 2005]. Although the current panel of 16 disorders utilizes commercial assays [Strom et al, 2005; Strom et al, 2006], to facilitate carrier testing of the recently added diseases (E3, USH1F, USH3, HI and NM), we designed a novel multiplexed bead-based assay which simultaneously genotyped their seven mutations and an additional five AJ mutations which cause MSUD and GSDIa.…”

Section: Discussionmentioning

confidence: 99%

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

et al. 2010

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The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ~1 in 3.3 being a carrier for one disease and ~1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ~15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population.

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Section: Discussionmentioning

confidence: 99%

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

et al. 2010

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“…Gaucher disease, mucolipidosis IV, Neimann-Pick disease and Tay-Sachs disease) [22], cystic fibrosis [23], Huntington's disease [24], methylene tetrahydrofolate reductase-related homocysteinemia, a1-anti trypsin deficiency, multiple endocrine neoplasia and BRCA1-and BRCA2-related cancers [25]. Genomic DNA material was tested in between three and ten clinical genetic laboratories for each of these disorders using a variety of genetic assays, including DNA sequence analysis.…”

Section: Reviewmentioning

confidence: 99%

Molecular diagnostics: harmonization through reference materials, documentary standards and proficiency testing

Holden¹,

Madej²,

Minor

et al. 2011

Expert Review of Molecular Diagnostics

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There is a great need for harmonization in nucleic acid testing for infectious disease and clinical genetics. The proliferation of assay methods, the number of targets for molecular diagnostics and the absence of standard reference materials contribute to variability in test results among laboratories. This article provides a comprehensive overview of reference materials, related documentary standards and proficiency testing programs. The article explores the relationships among these resources and provides necessary information for people practicing in this area that is not taught in formal courses and frequently is obtained on an ad hoc basis. The aim of this article is to provide helpful tools for molecular diagnostic laboratories.

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“…These include materials for various inherited genetic disorders, such as cystic fibrosis, 7 Huntington disease, 8 Fragile X, 9 and genetic conditions with relatively high prevalence in the Ashkenazi Jewish population 10 (for example, Bloom syndrome, Canavan disease, Fanconi anemia, Tay Sachs disease, familial dysautonomia, Gaucher disease, glycogen storage disease type 1a, Mucolipidosis IV, and Niemann-Pick disease). The program is currently developing new cell lines and conducting RM (on the lower level of the hierarchy) commutability and genotype characterization studies for Duchenne muscular dystrophy, pharmacogenetic loci and disorders included in the American College of Medical Genetics newborn screening panel.…”

Section: Discussionmentioning

confidence: 99%

“…Though sponsored by the CDC, much of the work performed by the GeT-RM, including RM priority decisions, specimen collection, material development, and molecular genetic characterization, occurs through voluntary collaborations with various clinical genetic laboratories. To date, the GeT-RM program has coordinated the development and/or commutability/genotype characterization of RMs for cystic fibrosis, 7 Huntington disease, 8 fragile X syndrome, 9 and several genetic conditions with relatively high prevalence in the Ashkenazi Jewish population 10 ; and has also provided information for several pharmacogenetic markers, including members of the CYP450 gene family, VKORC1, and UGT1A1.…”

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confidence: 99%

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

Barker

Bale²,

Booker

et al. 2009

The Journal of Molecular Diagnostics

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Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control , monitoring of test performance, test validation , and proficiency testing of DNA-based genetic tests. To address the need for such materials, the Centers for Disease Control and Prevention established the Genetic Testing Reference Material Coordination Program (GeT-RM), which works with the genetics community to improve public availability of characterized RMs for genetic testing. To date , the GeT-RM program has coordinated the characterization of publicly available genomic DNA RMs for a number of disorders, including cystic fibrosis, Huntington disease, fragile X, and several genetic conditions with relatively high prevalence in the Ashkenazi Jewish population. Genotypic information about a number of other cell lines has been collected and is also available. The present study includes the development and commutability/genotype characterization of 10 DNA samples for clinically relevant mutations or sequence variants in the following genes: MTHFR; SER-PINA1; RET; BRCA1; and BRCA2. DNA samples were analyzed by 19 clinical genetic laboratories using a variety of assays and technology platforms. Concordance was 100% for all samples, with no differences observed between laboratories using different methods. All DNA samples are available from Coriell Cell Repositories and characterization information can be found on the GeT-RM website.

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Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

Cited by 10 publications

References 30 publications

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases

Molecular diagnostics: harmonization through reference materials, documentary standards and proficiency testing

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

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