screening

Early results from a study of newborn screening methods show that DNA analysis detects many more serious preventable or treatable diseases than standard newborn screening. The study, published today in the journal JAMA, is one of the first large-scale studies in the world to use genome sequencing as a method of newborn screening and is the first to publish preliminary results. 

Prostate cancer screening tests using PSA (Prostate Specific Antigen) are associated with overdiagnosis, which calls into question their use. A clinical trial in men aged 50-60 years published in the journal NEJM has studied the possibility of adding an MRI test in those with an elevated PSA level and dispensing with biopsy if imaging finds no suspicious lesions. The results indicate that the procedure avoids more than half of clinically irrelevant cancer diagnoses that would not need treatment and only slightly increases the risk of failing to identify those that may become incurable. The authors recommend, on the basis of the study, to review the recommendations for such screening.

The use of faecal immunochemical testing (FIT) for colorectal cancer screening is associated with a 33% reduction in the risk of death from colorectal cancer, a study claims. The research, published in JAMA Network Open, analysed data from more than 10,000 people aged 52-85 in the US.

Two studies published in the New England Journal of Medicine evaluate colorectal cancer screening tests that could be alternatives to the existing faecal immunochemical test (FIT), which detects occult blood in stool. The first study uses a new generation test that detects DNA in stool and has a higher sensitivity than FIT, 93.9% for colorectal cancer and 90.6% for advanced neoplasia (tumour formation). The second uses a blood-based DNA detection test with a sensitivity of 83% for colorectal cancer and 90% for advanced neoplasia.   

A study published in the journal BMJ Oncology shows a preliminary stage test for the detection of 18 solid tumors of different organs based on the blood plasma proteome.

A machine learning model can use data on people's age, duration of smoking addiction and number of cigarettes smoked per day to predict lung cancer risk and identify who needs to be screened, according to a new study published in PLOS Medicine.

On the occasion of World Cancer Research Day on 24 September, the Science Media Centre Spain organised an information session on mass screening. At the meeting, researchers Adrian Aginagalde, Isabel Portillo and Juan Carlos Trujillo explained how mass screening is studied, analysed its advantages and disadvantages, explained how its implementation is decided and what new developments we can expect.

Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.