title: Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
abstract: 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.
  
  
  OBJECTIVE
  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.
authors: 1 Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine of Yeshiva University , Program for Jewish Genetic Health, Montefiore Medical Center, Bronx, New York.
authors: Susan
authors: S
authors: Klugman
authors: Nicole
authors: N
authors: Schreiber-Agus
authors: Shivani
authors: S
authors: Nazareth
authors: Eric A
authors: EA
authors: Evans
mesh_terms: D005260:Female; D030342:Genetic Diseases, Inborn / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007585:Jews / Q000208:ethnology* / Q000235:genetics*; D008297:Male; D009154:Mutation