According to the latest clinical data, a single pre-genome test is more effective for Lynch syndrome in patients with colorectal cancer (CRC) than traditional multiple sequential testing methods. The researchers say that providing such advanced genetic testing at the time of diagnosis can help guide and speed up treatment decisions for many CRC patients, and at the same time confirm the diagnosis of patients who may have Lynch syndrome (prone to cancer). When a mutation occurs in one of the DNA repair genes of a person, a carcinogenic situation occurs. People with Lynch syndrome are more likely to suffer from CRC, livmoderkræft, ovarian cancer, stomach cancer, or other cancers than the general population.
Til denne undersøgelse ønskede forskerne at vide, om en enkelt test til at screene flere mutationer for tidlige stadier tumor sekventering kan erstatte de mange detektionsmetoder, der i øjeblikket bruges til at bestemme, om patienter har Lynch syndrom. Til dette formål analyserede forskerne tumorprøver fra 419 CRC-patienter. Alle undersøgelsesdeltagere analyserede tumorprøver ved hjælp af den traditionelle genetiske testmetode med flere test og en enkelt præ-genom tumorsekventeringstest. Blandt dem analyserede en enkelt tumorprøve flere mutationer.
Forskerne sammenlignede resultaterne af de to screeningsmetoder og fandt ud af, at den tidligere tumorsekventeringsmetode er mere følsom end den gamle multiple detektionsmodel og mere specifikt kan detektere Lynch syndrom. Pre-stage tumorsekventering har øget påvisningshastigheden for Lynch syndrom med 10% og også givet patienter vigtig information om behandlingsmuligheder.
Past testing methods will only indicate suspicion of Lynch syndrome, but without multiple additional tests, the diagnosis cannot be confirmed, which will slow down the diagnosis process and increase costs. This new method points out the exact mutation at birth of the patient, and only requires a single test, using blood testing, which is cheaper than a multi-gene test kit. Previous methods sometimes required patients to perform five separate tests before knowing if they had Lynch syndrome.
Denne nye metode kan i høj grad reducere omkostningseffektiviteten, kan nøjagtigt bestemme testresultaterne og kan forhindre mange højrisikopatienter i at udvikle sig til kræft.
