Genomic Vision is a publicly-traded company on the Euronext regulated market in Paris



Press release




• SMA is the leading genetic cause of death in infants and carrier rate is 1 in 50.

• Following the promising initial results obtained in 2017, both companies agree to accelerate program to research and potentially develop a clinical SMA combing carrier screening service.

• If successfully, Genomic Vision will receive royalties for any test service independently developed by Quest as a result of the research.


Bagneux (France), Secaucus (New Jersey, USA), March 14, 2018 – 7.30 am (CET) – Genomic Vision (FR0011799907 – GV), a company specialized in the development of diagnostic tests for the early detection of cancers and hereditary diseases, and applications for life sciences research, today announced that it has extended its collaboration and commercialization agreement with Quest Diagnostics, the world’s leading provider of diagnostic information services, for the development of new biomarkers to improve the genetic detection of Spinal Muscular Atrophy (SMA).

Genomic Vision and Quest Diagnostics have agreed to accelerate the pace of their collaboration to identify new biomarkers with the possibility of detecting SMA “2+0” carrier status. Identification of this rare form of mutation would lead to greater sensitivity in SMA screening. The extended agreement follows a presentation at the American Society of Human Genetics (ASHG) in 2016 that showed the relevance of molecular combing for the structural analysis of SMA’s complex genomic region. Quest would independently develop, validate and offer any new lab test based in this research.

Stephane Altaba, Executive VP Corporate Development of Genomic Vision declared: “We are very proud of the results already obtained in the characterization of the SMA genomic region. This reinforced partnership aiming to enhance SMA testing could result in improved services to help patients and doctors identify SMA status. If an improved test is launched, Genomic Vision will receive royalties from its total sales.”


Dr. Jay Wohlgemuth, Senior VP, CMO of Quest Diagnostics added: “DNA combing can enable detection of clinically relevant genomic changes which not all current technologies can observe. We look forward to exploring the potential for new biomarker discovery and test services using the innovative DNA combing technique to advance SMA screening for couples and their children.”


SMA is a genetic condition that results in progressive muscle weakness and paralysis due to loss of motor neuron in the spinal cord. The disease is often fatal during childhood and is caused by a defect of the SMN1 gene in both of the patients’ copies of chromosome 5. The incidence of SMA in the general population is 1/6000-1/10.000 births.

The disease is transmitted in an autosomal recessive manner which means that the healthy parents of an affected child carry the SMN1 gene defect, although they are completely asymptomatic. Carriers with 2 SMN1 gene copies on 1 chromosome and none on the other (“2+0”) cannot be distinguished from a normal non-carrier, and therefore the test result may not reliably identify carrier status. Initial research suggests this pattern may be detected by molecular combing, technique pioneered by Genomic Vision.

Because of a highly complex genomic organization of the SMN locus, undetectable by current diagnostic techniques (multiplex ligation-dependent probe amplification, quantitative PCR, and DNA sequencing)., the screening test of couples at risk for conceiving a child with SMA may produce false-negative results. In addition, 30% of healthy carriers in the African-American population in the US cannot be detected using traditional molecular biology techniques.

In early 2017, the American College of Gynaecology (ACOG) changed its screening guidelines to recommend that physician offer SMA screening tests for all women who are -or are considering becoming- pregnant. If a woman is found to be a carrier, her reproductive partner should be offered screening.



GENOMIC VISION is a company specialized in the development of diagnostic solutions for the early detection of cancers and serious genetic diseases and tools for life sciences research. Through the DNA Molecular Combing, a strong proprietary technology allowing to identify genetic abnormalities, GENOMIC VISION stimulates the R&D productivity of the pharmaceutical companies, the leaders of the diagnostic industry and the research labs.

The Company develops a robust portfolio of diagnostic tests (breast, ovarian and colorectal cancers, myopathies) and analysis tools (DNA replication, biomarkers discovery, gene editing quality control). Based near Paris, in Bagneux, the Company has approximately 50 employees. GENOMIC VISION is a public listed company listed in compartment C of Euronext’s regulated market in Paris (Euronext: GV – ISIN: FR0011799907). For further information, please visit



Genomic Vision

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This press release contains implicitly or explicitly certain forward-looking statements concerning Genomic Vision and its business.

Such forward-looking statements are based on assumptions that Genomic Vision considers to be reasonable. However, there can be no assurance that such forward-looking statements will be verified, which statements are subject to numerous risks, including the risks set forth in the  “Risk Factors” section in its Document de Reference filed with the French Autorité des Marchés Financiers (AMF) on March 28, 2017, under number R.17-009, available on the web site of Genomic Vision ( and to the development of economic conditions, financial markets and the markets in which Genomic Vision operates. The forward-looking statements contained in this press release are also subject to risks not yet known to Genomic Vision or not currently considered material by Genomic Vision. The occurrence of all or part of such risks could cause actual results, financial conditions, performance or achievements of Genomic Vision to be materially different from such forward-looking statements.


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