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The current series of Genomic Medicine review articles concludes in this issue of the Journal with the publication of an article on cognitive impairment and autism by Mefford and colleagues.1 The topic of this article is an appropriate capstone for the Genomic Medicine series: it highlights the clinical advances in genomics regarding the care of patients with neurologic conditions, and it shows the potential of genomic science to further accelerate the pace of discovery in the neurosciences.
The power of genomic technologies — in particular, DNA sequencing — is extraordinary. These techniques have led to a precipitous plunge in the cost of generating sequence data (Figure 1). Remarkably, best estimates suggest that by the end of 2012, the National Institutes of Health will have funded whole-exome or whole-genome sequencing of samples from approximately 70,000 subjects involved in research protocols. This number would have seemed pure fantasy to most observers a decade ago. The advent of the $1,000 genome promises to have a profound effect on biomedical science by effectively democratizing genome-scale sequencing for research and clinical purposes. Low-cost sequencing has also brought us to a point at which the cost of interpreting, manipulating, and storing data from genomic research is the barrier to use of the data.
The ability to sequence human genomes inexpensively raises complex issues concerning the rights and responsibilities of scientists, health care providers, policymakers, and the public. Although the Health Insurance Portability and Accountability Act (HIPAA), the Americans with Disabilities Act (ADA), and the Genetic Information Nondiscrimination Act (GINA) have addressed some of these issues, many issues remain unresolved. Their resolution...