SYNLAB and Counsyl to Offer Genetic Screening for CF, Other Inherited Diseases

Daniela Semedo, PhD avatar

by Daniela Semedo, PhD |

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A new test able to screen for the risk for inherited conditions such as cystic fibrosis (CF) will be jointly commercialized by SYNLAB and Counsyl, two companies dedicated to the development of genetic screening tests.

Under a new agreement signed by the two companies, SYNLAB will offer Counsyl’s proprietary Expanded Carrier Screening (ECS) test, which will be trademarked as preconGEN. The test will be available in selected countries in Europe and Latin America, including Spain (where is now available), Portugal, Italy, Switzerland, and Colombia.

“We are delighted to partner with Counsyl to offer our doctors and their patients access to genetic information through this proprietary, industry-leading test that will help individuals make informed decisions in conjunction with their healthcare providers,” Santiago Valor, chief medical officer for SYNLAB, said in a press release.

The currently available Counsyl physician-ordered ECS, called Family Prep Screen in the United States, identifies nearly 2.6 percent of couples at risk of having children with inherited conditions. This information allows couples who are planning to have children to make informed decisions.

“Our goal is to make innovative diagnostic services such as ECS accessible to our customers,” Valor said. “We are committed to enhancing healthcare through genetics-based screening that provides valuable information for use in healthcare planning, diagnosis and treatments, and to provide this information in a way that is tailored to each individual’s unique genetics.”

Counsyl has screened over 750,000 patients with genetic diseases and identified more than 8,000 couples in the U.S. that are at-risk of transmitting hereditary diseases to their children.

The American College of Obstetricians and Gynecologists’ (ACOG) new Committee Opinion now recognizes ECS as a valuable resource for carrier couples to do pre-pregnancy and prenatal screening.

Cystic fibrosis is a genetic disease that causes persistent lung infections and limits the ability to breathe over time. People with CF have inherited two copies of the defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene — one copy from each parent. Both parents must have at least one copy of the defective gene for their child to inherit the disease.

“When both parents are carriers of the same recessive genetic condition, such as cystic fibrosis or spinal muscular atrophy, they have a one in four chance of having an affected pregnancy. Offering Counsyl’s ECS product in Europe and Latin America will provide more people with important genetic information about serious conditions,” said Matthew Meyer, Counsyl’s senior vice president of corporate development.

“As a leading diagnostic laboratory service provider with a broad footprint and extensive medical experience, SYNLAB is an ideal international partner for Counsyl,” he added.