The recent exponential decline in the cost of sequencing human genomes to within an order of magnitude of $1000 has led to increased use of this technology in a variety of research and clinical settings. Examples of clinical sequencing success stories for diagnosing rare conditions are increasingly common and sequencing of tumor samples is being performed in many academic cancer centers to help guide care.1 To date, whole-genome or exome (the protein-coding portions of the genome) sequencing is not a tool being applied to large populations of individuals, but another major decrease in cost may make such testing available to substantial segments of the population. Federally funded exploration of sequencing as an adjunct to routine newborn screening is already underway, and private sector companies are developing expanded carrier screening tests for the purpose of reproductive decision making.2,3 These developments suggest that in the future, genomic sequence data may become a routine component of clinical diagnosis, risk assessment, prevention, and drug selection.
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