Invitae Launches Comprehensive Carrier Screening for Genetic Disorders, Including Fragile X

Ana de Barros, PhD avatar

by Ana de Barros, PhD |

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DNA repeats, Fragile X

Invitae Corporation has launched the Invitae Carrier Screen, an affordable test designed to inform prospective parents of genetic changes that increase their risk of having a child with an inherited genetic disorder, such as fragile X syndrome.

“By providing affordable, comprehensive, high-quality genetic information, Invitae carrier testing can help parents-to-be have the information they need to make appropriate health decisions when starting a family,” Robert Nussbaum, MD, chief medical officer of Invitae, said in a company press release.

“Most often, people who are carriers of potentially serious alterations in a gene are unaware of their status and have no symptoms, known as ‘silent carriers.’ Carrier screening provides information about the risks of unknowingly passing along a genetic disorder from one or both parents to a child, which is why professional societies, such as the American College of Medical Genetics and Genomics (ACMG) and the American College of Obstetrics and Gynecology (ACOG), recommend carrier screening for all people considering pregnancy,” he said.

The test uses state-of-the-art technology to identify changes in 287 genes linked to serious genetic disorders, including cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X.

The test identifies disease-causing changes in up to 99 percent of the genes screened, compared with more limited approaches that test only for changes in genes commonly observed in certain ethnic groups.

“As we continue toward our goal to aggregate the world’s genetic tests into a single service, the addition of carrier screening further strengthens our ability to provide genetic information to inform healthcare decisions through every stage of life,” said Sean George, co-founder and CEO of Invitae.

The test screens for disorders recommended by the ACMG, ACOG and national Jewish societies, disorders found on newborn screens, and several x-linked disorders like fragile X syndrome or Fabry disease.

In addition to the 287-gene panel, the company also offers two precurated panels — a 46-gene test assessing a smaller set of common disorders and a targeted test consisting of the three genes associated with fragile X syndrome, CF and SMA. All panels can be complemented with the screening of 13 additional isolated genes.

Results are available in approximately two weeks, and the test is covered by most major health insurers. Access to qualified counseling is included throughout the whole process.

The Invitae Carrier Screen replaces the existing GeneVu carrier screen, developed by Good Start Genetics and acquired by Invitae in 2017.