A research team at the Baltimore Johns Hopkins School of Medicine has developed the CancerSEEK Test, which is based on the detection of 16 cancer genes and 8 conventional tumor marker proteins.
https://www.ncbi.nlm.nih.gov/pubmed/29348365
The mechanism of the blood test is based on the fact that in tumors it regularly comes to the disintegration of cancer cells and thus proteins and DNA fragments can be detected in the bloodstream.
With the help of this "Liquid Biopsy" selected sections of 16 genes are determined and compared with a catalogue of known cancer mutations. This evaluation also uses machine learning.
http://cancer.sanger.ac.uk/cosmic
The first pilot study took place with around 1000 patients suffering from various types of cancer (including cancer of the ovaries, liver, esophagus, pancreas, stomach, intestines, lungs and breast).
The first results regarding the sensitivity and the specificity of the diagnostic method were already very promising. The sensitivity ranged from 33% for breast cancer to 98% for ovarian cancer.
The specificity was over 99%. Of 812 healthy volunteers, only seven had a false positive result.
The difference between sensitivity and specificity is explained very well in this video.
The calculated cost of CancerSEEK is about $ 500 per test and are therefore cheaper than other screening methods such as colonoscopy or mammography.
Until the launch of the test, further, larger studies will be required. The next study will be conducted with 100 000 healthy participants.
CancerSeek has great potential and could be an important breakthrough in identifying frequent cancers in the future, quickly and without much effort and thus save millions of lives.
Report from Al Jazeera about the test