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314 genes, RecombineÓ; Table ). For each disease included on both panels, the number of mutations screened was assessed. Chi-Square and Wald tests assessed the differences in positive screen rates. P-values <0.05 were considered significant.RESULTS: Overall, Panel A detected 0.35 mutations per person on average and Panel B detected 0.57 mutations per person. When adjusting for the number of genes included in the panel, Panel B was found to detect more mutations (p<0.0001). The pick-up rate did not change significantly for diseases already included in ethnicity-based panels recommended by professional societies, including Cystic Fibrosis and Ashkenazi Jewish diseases (Table ). Among the top diseases identified in the study population, the differences in screened mutations varied: The pick-up rate did not always differ significantly with additional mutations added (e.g. Smith-Lemli-Opiz Syndrome,Table ). However, there was a significant increase in detection of other higher frequency diseases (e.g. Nonsyndromic hearing loss and deafness, Alpha-1-antitrypsin deficiency, and Familial Mediterranean fever), where additional mutations were screened (Table ).CONCLUSIONS: 1. In some cases, expanding mutations increases carrier pick-up rate.2. In several instances, Panel A (fewer genes and mutations) still had an upper hand in carrier pickup. Here, the choice of mutations with a higher prevalence in the population compensates for lower number of mutations, and therefore the pickup rate is the same.3. In the past, the following guidelines have been suggested for including mutations: well understood pathogenicity, residual risk, and carrier frequency R1 in 100.4. Since any existing panel is expected to miss mutations, preconception genetic screening may ultimately evolve to whole genome sequencing.

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