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As hospitals and insurers battle over coverage for single-gene diagnostic tests, and the US Food and Drug Administration cracks down on the products of personal genomics companies, a growing number of doctors are relying on the sequencing of either the whole genome or of the coding region, known as the exome.
"If one hospital is doing it, you can be sure others will start, because patients will vote with their feet," Elizabeth Worthey, a genomics specialist at the Human and Molecular Genetics Center (HMGC) of the Medical College of Wisconsin in Milwaukee, said at the Personal Genome meeting at Cold Spring Harbor Laboratory in New York last weekend.
In May 2009, the genetic-technology provider Illumina, based in San Diego, California, launched its Clinical Services programme with two of its high-throughput genome analysers. The company now has 15 such devices dedicated to this programme.
Illumina provides the raw sequence data attained from a patient's DNA sample to a physician, who passes it on to a bioinformatics team, which works to crack the patient's condition. However, Illumina is working to develop tools to help physicians navigate genomes and identify genes already associated with diseases, as well as novel ones.
So far, the company has sequenced more than 24 genomes from patients with rare diseases or atypical cancers at the request of physicians at academic medical centres. The standard US$19,500 price tag is typically covered by the patient, by means of a research grant, or with the help of private foundations, although one patient is currently applying for insurance reimbursement.
I would be really surprised if insurance is able to cover for exome sequencing in any conditions. Also see my Commentary on Personal Genomics testing