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Following Clinical Pilot Study, CeGaT Launches Genetic Disease Prevention Panel


NEW YORK (GenomeWeb) – German genetic diagnostics company CeGaT has entered the preventive care market with the launch of its Disease Prevention Panel to detect genetic risk factors for a variety of conditions including hereditary cancer, cardiovascular disease, and blood coagulation disorders.

The Tübingen-based company, which says it is the first laboratory in Germany to offer such a test, follows in the footsteps of other firms, including Invitae and Color, that have launched physician-ordered genetic tests that target individuals concerned about their future health. CeGaT's test is currently available in Germany but the company plans to offer it also in the US and Southeast Asia.

CeGaT's Disease Prevention Panel, a next-generation sequencing test, focuses exclusively on actionable genes and variants. "We only look for genetic risk factors that have a therapeutic consequence," said Dirk Biskup, the company's managing director. The panel covers 134 genes involved in six types of conditions: cancer, cardiovascular disease, thrombosis and coagulation disorders, iron and copper storage disorders, hypercholesterolemia, glaucoma, and malignant hyperthermia/anesthesia intolerance. Another part of the panel covers 17 pharmacogenetics-related genes. CeGaT recently updated the test, now in its second iteration, deleting some genes and adding others.

The test starts with mandatory pre-test counseling, which in Germany has to be provided in person by a genetically trained physician (the country does not have the profession of genetic counselor). After a blood sample is collected, the 151-gene panel is sequenced in CeGaT's Tübingen CLIA-certified and CAP-accredited laboratory on an Illumina NovaSeq.

Data analysis and interpretation involve all types of variants, including indels and structural variants. The results, which cover both pathogenic and likely pathogenic variants but not variants of unknown significance, go into a detailed medical report that includes recommendations for follow-up. The report is then sent to a genetically trained physician to discuss the results with the patient.

The price of the panel, which is currently not covered by health insurance, is around €2,000 and includes biannual data analysis updates.   

CeGaT has validated the Disease Prevention Panel in a 300-participant clinical study in collaboration with Robert-Bosch-Hospital in Stuttgart. The hospital provides preventive care to members of the management of Bosch, the German engineering and electronics giant, who participate in a screening and prevention program and were recruited for the study. 

Almost all of the study participants had a pharmacogenetic finding, and about 20 percent had a disease-associated result, which Biskup said was more than expected. In terms of frequency, variants related to thrombosis and coagulation disorders were most common, followed by variants associated with iron and copper storage disorders and variants that increase cancer risk.

Findings led to recommendations such as more frequent cancer screenings, changes in diet, or taking drugs to prevent thrombosis on long-distance flights. Overall, participants reported an increase in their quality of life several months after the study, including those who had positive disease-risk findings, Biskup said. Detailed results from the study will be reported in a forthcoming scientific publication, he added.

Bosch now plans to offer the test to about 300 to 400 members of its management team per year, Biskup said. In addition, CeGaT seeks to strike additional partnerships, similar to the one with Robert-Bosch-Hospital, with disease prevention clinics and others.

One limitation in the German market will be the availability of genetically trained physicians to provide pre- and post-test counseling, which is mandatory according to a law called the Gene Diagnostics Act (Gendiagnostikgesetz). While that law is unlikely to change in the near term, Biskup said he anticipates consumer demand for the test to grow. "We expect this to be a program that many people want," he said, and "similar to [noninvasive prenatal testing], to drive a certain demand from customers."

Outside of Germany, CeGaT plans to launch the test in the US, probably in the fourth quarter, as well as in Southeast Asia, through partner clinics that specialize in disease prevention. Pre- and post-test counseling will be handled locally by those clinics, Biskup said, with expertise from CeGaT's medical genetics staff available when needed, and samples from patients abroad will be tested in CeGaT's Tübingen lab.

However, at least in some markets, CeGaT is facing competition, and lower prices, from other genetic testing companies who recently entered the preventive care genetic testing market, including Invitae and Color.

Invitae offers three proactive genetic testing options — a cancer screen that analyzes 57 genes, a cardio screen that assesses 75 genes, and a genetic health screen that encompasses 139 genes. In a pilot study involving 750 individuals that was presented at the American College of Medical Genetics and Genomics conference this spring, the company found that 16 percent had a positive result, mostly in genes associated with cancer or cardiovascular disease.

Pricing for the tests is $250 for the two smaller panels and $475 for the large panel, according to the firm's website. The tests must be ordered by a physician, and Invitae offers patients phone-based genetic counseling at no additional charge. According to an Invitae spokesperson, the proactive tests are available internationally, including in Germany, where the ordering physician is in charge of making sure the patient receives the required genetic counseling. 

Color, for its part, offers a hereditary cancer test that covers 30 genes and a hereditary heart health test that covers 30 genes, each for $249, or $349 in combination. In addition, it sells a hereditary high cholesterol test that covers three genes for $99. Like Invitae's offerings, these tests need to be ordered by a physician, and Color provides access to genetic counselors that is included in the price. According to its website, the tests are available in more than 100 countries, however not in Germany.

Biskup declined to comment on tests from competitors but said that CeGaT's Disease Prevention Panel "is a high-end product" and serves "different customers and needs."