Genetic sequencing assay for rare disease diagnosis launched

Centogene: Test able to sequence, detect number of SMN1, SMN2 copies in SMA

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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Centogene has launched a new genetic sequencing assay to support faster and more accurate diagnoses of rare diseases, such as spinal muscular atrophy (SMA).

Called NEW CentoGenome, the assay combines advanced genetic sequencing with clinical information housed in the company’s rare disease Biodatabank.

“As a pioneer of genetic diagnostics, we are committed to enabling access to high-quality diagnostics and ensuring that cutting-edge data analyses are available to support better patient health outcomes,” Peter Bauer, MD, Centogene’s chief medical and genomic officer, said in a company press release. The new assay provides a “leading solution on the market, reflecting the latest advanced technologies and unique insights that can’t be found anywhere else to provide maximized disease coverage,” Bauer said.

Many patients with rare diseases face a “diagnostic odyssey” when their symptoms first emerge, sometimes enduring multiple misdiagnoses over several years before the right disease is named.

Because an earlier diagnosis and treatment are linked to better outcomes, delays can negatively impact a person’s physical health significantly, and affect their mental health and quality of life.

The NEW CentoGenome assay combines three features that make for a better test than what’s now on the market, according to the company. First, it employs advanced genetic sequencing technology that Centogene says covers 19,000 genes and almost all known rare and neurodegenerative disease-causing mutations in a single assay.

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It also yields higher quality data than other approaches, even in regions of the genome that’ve been historically difficult to sequence. That means disease-causing mutations in those regions can be more precisely identified.

The company touts their technology as capable of accurately sequencing and detecting the number of copies of SMN1 and SMN2, the two genes involved in the most common types of SMA.

Mutations in SMN1, which is responsible for producing the SMN protein, are the typical cause of SMA. SMN2 is a backup SMN producer and the number of copies of it can inform the course of disease, with more copies associated with a less severe disease.

To interpret the findings from the genetic sequencing, NEW CentoGenome runs the data through a bioinformatics pipeline that relies on information housed in Centogene’s Biodatabank, a repository of clinical and genetic information from about 700,000 patients with rare diseases in more than 120 countries. Medical experts can then interpret the data to support a genetic diagnosis.

Use of the assay also comes with lifelong diagnostic support for patients as well as diagnosis confirmations free of charge.

Centogene maintains that by offering accurate genetic sequencing backed by data from thousands of patients with rare diseases, NEW CentoGenome will help patients receive the right treatments sooner, improving their health and saving resources.

“Ultimately, this will provide physicians with an unparalleled level of certainty when diagnosing, prognosing, and treating patients,” Bauer said.