TY - JOUR
T1 - Detection of carriers in the Ashkenazi Jewish Population
T2 - An objective comparison of high-throughput genotyping versus gene-by-gene testing
AU - Klugman, Susan
AU - Schreiber-Agus, Nicole
AU - Nazareth, Shivani
AU - Evans, Eric A.
PY - 2013/10/1
Y1 - 2013/10/1
N2 - Background: High-throughput genotyping allows rapid identification of targeted mutations at a fraction of the cost of current gene-by-gene testing methodologies. An objective comparison of the two methodologies allows providers to assess the clinical validity/utility of high-throughput carrier screening and establish a comfort level with new genomic technologies. Aim: To verify that high-throughput genotyping accurately determines patient carrier status, DNA samples from previously identified carriers (n=31) of Ashkenazi Jewish genetic diseases were anonymized and submitted for retesting by high-throughput genotyping. Results: The results were 100% concordant (95% CI: 0.998-1), demonstrating that high-throughput genotyping assays accurately identify carriers of targeted mutations in the Ashkenazi Jewish population. In addition, carrier status for diseases and mutations not previously tested was uncovered using the high-throughput assay. Conclusions: High-throughput genotyping is a cost-effective and clinically valid approach to carrier screening. The use of a broader screen for Ashkenazi Jewish individuals increases the detection of carriers in this population.
AB - Background: High-throughput genotyping allows rapid identification of targeted mutations at a fraction of the cost of current gene-by-gene testing methodologies. An objective comparison of the two methodologies allows providers to assess the clinical validity/utility of high-throughput carrier screening and establish a comfort level with new genomic technologies. Aim: To verify that high-throughput genotyping accurately determines patient carrier status, DNA samples from previously identified carriers (n=31) of Ashkenazi Jewish genetic diseases were anonymized and submitted for retesting by high-throughput genotyping. Results: The results were 100% concordant (95% CI: 0.998-1), demonstrating that high-throughput genotyping assays accurately identify carriers of targeted mutations in the Ashkenazi Jewish population. In addition, carrier status for diseases and mutations not previously tested was uncovered using the high-throughput assay. Conclusions: High-throughput genotyping is a cost-effective and clinically valid approach to carrier screening. The use of a broader screen for Ashkenazi Jewish individuals increases the detection of carriers in this population.
UR - http://www.scopus.com/inward/record.url?scp=84884560832&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84884560832&partnerID=8YFLogxK
U2 - 10.1089/gtmb.2013.0105
DO - 10.1089/gtmb.2013.0105
M3 - Article
C2 - 23952016
AN - SCOPUS:84884560832
SN - 1945-0265
VL - 17
SP - 763
EP - 767
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
IS - 10
ER -