ALSO IN THIS ISSUE
Updates in testing for:
HPV
Breast cancer
Alzheimer’s
Parkinson’s
And more
Improving HPV screening and HPV-positive cancer Dx
Self-sampling kits increase HPV screening
Screening for human papilloma virus (HPV) shot up when overdue patients got a phone reminder and a self-sampling kit that they could use at home, according to a recent study. In the real-world, randomized trial of nearly 2.5K underserved people, about 17% of those who received a phone call alone got screened, compared to 41% of those who also got a mail-in kit. Certain types of human papilloma virus are significant risk factors for cervical cancer.
Liquid biopsy excels at detection of HPV-positive cancer
A liquid-biopsy test did a better job of detecting head-and-neck cancer caused by human papilloma virus (HPV) than traditional biopsy did, according to recent research. The blood test uses whole-genome sequencing to look for circulating tumor DNA (ctDNA) from cancer cells, and has 99% sensitivity and specificity. While the study’s authors commented that for now the test is best used to detect whether cancer has recurred in a patient after surgery, the hope is that it could one day lead to a screening test for the disease.
Landmark approvals from FDA
AI tool that predicts five-year breast-cancer risk
The FDA has authorized an AI tool that can predict patients’ five-year breast-cancer risk based only on a routine mammogram. While computer-aided mammogram analysis has been around for decades, the manufacturer says that its platform is the first to predict future risk. COMMENTARY: Exciting to see AI being used in a practical and value-added way. Mammograms are widely used on an annual basis, which seems good, but are they being overused? That would be bad. As we have said many times (and as Eric Topol has emphasized), the best use of technology is to focus, focus, and focus. Using AI to recognize people with high risk of disease is efficient and effective. We are pleased by this new tool and hope to see more like it for multiple diseases in the future.
First blood-based test for Alzheimer’s
A blood test for Alzheimer’s disease that was previously only available as a laboratory-developed test (LDT) has now received full FDA marketing approval. The test measures the ratio of the proteins pTau-217 and beta-amyloid 1-42 in the patient’s blood. That number lets clinicians know whether the amyloid plaques that are characteristic of Alzheimer’s are present in the brain. The approval states that the test should only be used in patients over age 55 who have symptoms of the disease. The test is the first blood-based diagnostic the agency has approved for Alzheimer’s diagnosis.
Wearables go mainstream: ACC issues Apple Watch guidelines
The American College of Cardiology has issued guidelines for the use of Apple Watches in monitoring cardiovascular health. The recommendations, which cover use by both clinicians and patients, come in the form of a downloadable tool that was developed in partnership with Apple. COMMENTARY: We are thrilled to see a physician association embrace the reality that consumers are using the technology. For too long, these associations have dismissed consumer devices. While we know that an office visit is more comprehensive and accurate, we can’t let the perfect be the enemy of the good.
Firings reversed at CDC’s STD lab
STAT News reports that all full-time employees at the CDC’s sexually transmitted disease lab have been rehired. (The administration fired the lab’s entire staff in April.) Agency staffers received notification of the rehiring via an email from HHS’s Office of Human Resources - the same way they had originally been notified that they were fired. An employee told STAT News that neither the leaders of the lab nor leadership at CDC were aware of the change until the employees told them.
Measles: Virus detected in NM wastewater
While New Mexico did not report any new measles cases this week, the virus was found in wastewater in the central part of the state. The positive test indicates that at least one person with undiagnosed measles is present in that area.
The current larger outbreaks are shown below. The cases in Texas, New Mexico, Kansas, and Oklahoma all came from the same source; those in Arkansas, Colorado, Montana, North Dakota and Ohio are unrelated.
A blood test for celiac disease
Right now, testing for celiac disease requires patients to eat food that contains gluten - the thing that makes them sick - for an extended period of time. The diagnosis also requires a biopsy. A small observational trial of 181 people showed that a blood test that measures the immune marker interleukin-2 (IL-2) could diagnose people with celiac disease even if they were on a gluten-free diet. The test had up to 90% sensitivity and 97% specificity, and “the strength of the IL-2 signal correlated with the severity of a patient’s symptoms,” one of the study’s authors noted.
A pen that diagnoses Parkinson’s
Getting diagnosed for Parkinson’s disease could one day be as simple as writing your name. A small pilot study showed that writing - or simply drawing lines or spirals - with a specially equipped, 3D-printed pen could diagnose the condition with an average accuracy of about 96%. The pen contains ferrofluid (liquid that is attracted to a magnet). When the patient uses the pen, the ink moves around, pulling on magnetic material embedded in the tip of the pen. An AI-based system then analyzes the signals the pen sends out in response to these changes.
Recommending CRC screening at 45 was effective - and needed
Back in 2021, the US Preventive Services Task Force decreased the recommended starting age for colorectal cancer (CRC) screening from 50 to 45. Looks like that was a good call. The number of folks ages 45 to 49 who are getting screened for the disease has increased substantially since then (though it’s still only 10 - 15% of those eligible for screening, and most of the increase is among folks in or near cities and those with higher socioeconomic status). And people in this age group need to be screened. According to a recent single-center study, they are nearly as likely as older people to be diagnosed with cancer after a colonoscopy.
COMMENTARY: Colonoscopy is unique among cancer screening methods because it is diagnostic and therapeutic - it enables removal of early cancerous lesions during screening. If you are 45 or older, get your colonoscopy!
Why diagnosing MASLD matters
Last month, we covered a model that can predict an individual’s risk of getting Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) up to five years in the future with up to 90% accuracy. New research published in the Lancet Regional Health underscores the importance of such predictions. As the Guardian reported, “about 20 million people in the US, UK, Germany, and France are living with MASH [the most aggressive form of MASLD], but only 2.5 million people have a diagnosis, leaving more than three-quarters – about 16.7 million people – unaware they have the condition.” (Disclosure: Mara's firm has an early investment in a company developing tests for these conditions.)
Sixty-seven kids born from sperm donor with cancer-causing mutation
“The sperm of a man carrying a rare cancer-causing mutation was used to conceive at least 67 children, 10 of whom have since been diagnosed with cancer,” the Guardian reported late last month. According to the article, when the sperm was donated in 2008, scientists didn’t yet know that the mutation in question (a variant of the TP53 gene) increased cancer risk. But we do now. And people with Li-Fraumeni syndrome, the condition it often causes, have a 90% chance of getting some type of cancer before they turn 60. COMMENTARY: The Guardian article - and the folks interviewed for it - focused primarily on the number of kids in this case. And while we agree that 67 babies is way too many to come from one donor, we can’t help but notice that testing, had it been available at the time, could have prevented this situation.