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DNA analytics company Illumina announced today that it has acquired BlueGnome, a diagnostics company based in Cambridge, U.K., that specializes in chromosomal screening for reproductive health and cancer. The news comes after a flurry of announcements from Illumina in the last two weeks, many of which emphasize the company’s expansion from the world of basic research into medicine.

“We’ve been moving very deliberately toward diagnostics,” says Illumina CEO Jay Flatley, who adds that the acquisition will allow the company to combine its existing expertise in research with the clinical evaluation of patients. The two major areas of focus for Illumina’s diagnostic work are oncology and reproductive health, he says.

Today, doctors performing in vitro fertilization use various techniques to check embryos for genetic problems, such as mistakes in chromosome number, before they are transferred to the uterus. A single cell is removed from each IVF-produced embryo and tested so that only the embryos with the greatest chance of leading to a successful pregnancy are used. An abnormal numbers of chromosomes, known as aneuploidy, is thought to be a cause of miscarriage and failed IVF implantation. It is also linked to developmental problems.

BlueGnome manufactures genetic screening kits based on microarray technology that let fertility doctors screen IVF embryos for chromosomal abnormalities such as extra copies of chromosomes, as seen in people with Down syndrome. Some experts think that within five years, doctors may be able to sequence the entire genome of an embryo from a single cell. Flatley calls this approach a huge opportunity for Illumina and says it is brought closer by today’s acquisition.

“Sequencing is the more powerful tool to do these types of analyses,” he says. “Arrays are great if you know exactly what content it is that you are looking for, but not for spontaneous variations or mutations that occur. Sequencing gets you at everything. Even if you don’t know that a variant is present, sequencing will find it.”

BlueGnome’s technology is useful not only in IVF but in other areas of reproductive health, such as determining whether potential parents are carriers of inherited disease. It can also be used to screen cancer cells for genetic changes and to diagnose the genetic basis of developmental delays in children.

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Credit: Brevin Blach

Tagged: Biomedicine, Illumina, IVF, fertility

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