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Breakthrough Prenatal Test Detects 250 Diseases at 9 Weeks

The AHA! Team — Wed, 12 Feb 2025 06:36:28 +0000

Abigail Klein Leichman via Israel21c – Israeli startup Identifai develops first maternal blood test to identify risk of 250 genetic diseases as early as 9th week of pregnancy, matching the results of riskier and later amniocentesis. Of the 140 million babies born worldwide each year, 6-8% are at risk for hereditary genetic diseases. Amniocentesis is considered the gold standard for detecting fetal genetic risks with high accuracy, but it is invasive, has some risks for mother and baby, and cannot be done until at least 15 weeks into the pregnancy. The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about 10 percent of known genetic disorders, including Tay-Sachs, cystic fibrosis and spinal muscular atrophy. A breakthrough blood test developed in Israel is poised to make prenatal genetic testing available earlier, noninvasively and comprehensively: It can detect the risk of 250 diseases with high accuracy. Identifai was founded in 2021 based on the research of Tel Aviv University Prof. Noam Shomron, a world expert in genetics and bioinformatics. Using artificial intelligence and machine learning, Identifai’s technology requires nothing more than a maternal blood sample. After isolating fetal DNA from maternal DNA, it does a full, rapid fetal genetic sequencing starting from just nine weeks’ gestation. The technology can detect mutations even in a single DNA base among billions, making it capable of identifying a wide range of hereditary genetic conditions. “This is a tremendous step forward,” Identifai CEO Eyal Miller tells ISRAEL21c. “If the mother is a carrier [of a genetic disease], we can do the whole genome sequencing for the fetus and provide a clinical report with a negative predictive value of more than 99%,” he explains. “This means that if results are negative, the likelihood of the fetus having [a genetic disease] is close to zero. And that gives immediate relief to the parents. On the other hand, if the results are positive, the parents know exactly what they’re dealing with,” Miller adds. “That dramatically changes the whole ecosystem from the point of view of parents, clinicians and genetic counselors. This is why we shine.” Gamechanger The Israeli technology, expected to be commercialized in the second half of 2025 following additional clinical trials in Israel and the United States, has already gained international recognition through the publication of a study conducted at Israel’s Beilinson and Meir hospitals. Chosen as the cover story of the global journal Prenatal Diagnosis last August, the study involved 18 cases where both parents were carriers of genetic diseases. Identifai’s system analyzed the mothers’ blood samples and predicted fetal risks with 100% accuracy, matching the results from amniocentesis. Identifai will soon release results from a larger study at Columbia University Medical Center in New York. “At Columbia, we came across parents who carry a rare genetic disease and they were amazed that we can provide a very simple solution very early in the process in order to give them certainty about the status of the fetus as soon as possible,” Miller says. The couple wrote to Identifai: “Our reproductive journey has been hugely impacted by the knowledge of being carriers and we hope that this kind of non-invasive testing becomes available one day in the future for families like us.” The benefits of knowing Identifai generates a report for parents and their healthcare provider, detailing the probability of the fetus carrying or developing specific genetic conditions and how they might manifest if the pregnancy continues. “Couples are aware very early if the fetus has some type of disease, which means they can make a decision about what lies ahead,” says Miller. “If you’ve decided to maintain the pregnancy, there are specific hospitals in the United States that can treat the newborn immediately once a clear diagnosis is in place.” Furthermore, Identifai needs only maternal blood for analysis, which is helpful in the many cases where the father is unavailable or unknown. “If the mother is a carrier and you can’t find the father, the only thing to do until now has been to keep your fingers crossed and pray and then do invasive amnio,” says Miller. In addition to the medical advantages of the test, Miller adds, there’s an emotional and psychological advantage because amniocentesis “causes enormous anxiety and stress” and many expectant couples don’t want it. A $6 billion market Miller says the prenatal testing market is currently valued at $6 billion annually, with NIPT tests making up half of that amount. This market is expected to grow to $19 billion by 2030. “Our ability to detect fetal risk for hundreds of genetic conditions will expand this market to hundreds of billions, including early in-utero surgeries and detection of late-stage conditions where amniocentesis is no longer an option,” he says. “Furthermore, this solution, which does not require FDA approval, will be accessible, convenient, and effective for populations worldwide who avoid amniocentesis for cultural reasons, for millions of pregnancies where the father’s identity is unknown, and in response to new US legislation limiting abortions and amniocentesis tests that might justify terminations.” Identifai has received grants from the Israel Innovation Authority and raised $6.5 million from investors including Shizim as well as eHealth Ventures, which supports early-stage digital health companies from the initial stages of R&D through capital raising, business development, commercialization, and market entry. Identifai employs 15 people in its Tel Aviv offices. Miller says a US office will be established to support clinical, marketing and operational activities in that target market. For more information, click here. To read the original article click here.

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Blood Test Finds Knee Osteoarthritis up to Eight Years Before X-rays

The AHA! Team — Thu, 25 Jul 2024 08:13:23 +0000

Duke Health – DURHAM, N.C. – A blood test successfully predicted knee osteoarthritis at least eight years before tell-tale signs of the disease appeared on x-rays, Duke Health researchers report. In a study appearing April 26 in the journal Science Advances, the researchers validated the accuracy of the blood test that identifies key biomarkers of osteoarthritis. They showed that it predicted development of the disease, as well as its progression, which was demonstrated in their earlier work. The research advances the utility of a blood test that would be superior to current diagnostic tools that often don’t identify the disease until it has caused structural damage to the joint. “Currently, you’ve got to have an abnormal x-ray to show clear evidence of knee osteoarthritis, and by the time it shows up on x-ray, your disease has been progressing for some time,” said senior author Virginia Byers Kraus, M.D., Ph.D., a professor in the departments of Medicine, Pathology, and Orthopaedic Surgery at Duke University School of Medicine. “What our blood test demonstrates is that it’s possible to detect this disease much earlier than our current diagnostics permit.” Osteoarthritis (OA) is the most common form of arthritis, afflicting an estimated 35 million adults in the U.S. and causing significant economic and societal impacts. While there are currently no cures, the success of potential new therapies could hinge on identifying the disease early and slowing its progression before it becomes debilitating. Kraus and colleagues have focused on developing molecular biomarkers that can be used for both clinical diagnostic purposes and as a research tool to aid in the development of effective drugs. In previous studies, the blood biomarker test demonstrated 74% accuracy in predicting knee OA progression and 85% accuracy in diagnosing knee OA. The current study further honed the test’s predictive capabilities. Using a large United Kingdom database, the researchers analyzed serum of 200 white women, half diagnosed with OA and the other half without the disease, matched by body mass index and age. They found that a small number of biomarkers in the blood test successfully distinguished the women with knee OA from those without it, catching molecular signals of OA eight years before many of the women were diagnosed with the disease by x-ray. “This is important because it provides more evidence that there are abnormalities in the joint that can be detected by blood biomarkers well before x-rays can detect OA,” Kraus said. “Early-stage osteoarthritis could provide a ‘window of opportunity’ in which to arrest the disease process and restore joint health.” In addition to Kraus, study authors include Shuming Sun, Alexander Reed, Erik J. Soderblom, M Arthur Moseley, Kaile Zhou, Vaibhav Jain, Nigel Arden, and Yi-Ju Li. The study received funding support from National Institutes of Health (R01-AR071450 and P30-AG028716). To read the original article click here.

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UC San Diego Health Launches Novel Coronavirus Blood Testing to Identify Past Exposure

AHA Publisher — Sat, 18 Apr 2020 07:00:06 +0000

University of California San Diego Health via Newswise – Serological tests look for antibodies produced in response to infection, and will help determine who may have potentially acquired immunity to COVID-19—and who remains at risk. Newswise — Clinical laboratory physicians and scientists at UC San Diego Health have launched a pair of serological tests that will look for novel coronavirus antibodies — evidence in persons tested that they have previously been infected by SARS-CoV-2, the viral cause of COVID-19, even if they never experienced tell-tale symptoms. The effort will be overseen by the UC San Diego Center for Advanced Laboratory Medicine (CALM), which houses the majority of UC San Diego Health’s Clinical Laboratories and related research activities and is already the hub for the health system’s in-house PCR-based diagnostic testing of patients and persons suspected of having COVID-19. “This is part of the next wave of testing,” said Ronald W. McLawhon, MD, PhD, director of CALM and UC San Diego Clinical Laboratories and chief of the Division of Laboratory and Genomic Medicine. “It’s intended to answer those growing questions about who has been infected and who might still be vulnerable to exposure.” The effort is built upon two assays developed by Diazyme Laboratories, Inc., a division of General Atomics, based in Poway, Ca. The tests analyze blood samples, similar to those taken for routine clinical reasons, for the presence of two of the body’s five classes of antibodies: IgG and IgM. Antibodies are proteins used by the immune system to recognize and help neutralize pathogenic invaders, such as viruses or bacteria. The IgG antibody is the most abundant type; IgM is one of the first antibody types produced by the body’s immune system to fight a new infection. Looking for these two types of antibodies together, rather than one, increases the treating physician’s confidence in being able to differentiate between a recent infection versus a past exposure to the SARS-CoV-2 virus. “These tests have already gone through an initial assessment and validation by Diazyme,” said Robert Fitzgerald, PhD, professor of clinical pathology at UC San Diego School of Medicine and director of the Toxicology Laboratory and associate director of Clinical Chemistry Laboratory at UC San Diego Health. “We’ve put them through our validation processes as well, including comparing samples from patients known to have COVID-19, healthy volunteers and blood samples from 2018, long before the virus appeared.” McLawhon said initial capacity for serological testing will be a combination of up to 1,200 of IgM or IgG antibody tests per day, with results within 24 hours. The system, he said, is scalable. The presence of novel coronavirus antibodies can reveal persons who may have unknowingly contracted COVID-19 and recovered, but never showed signs of infection. The first testing cohort will likely be health care workers, which will help identify who are now in a convalescent phase after a documented exposure and, perhaps, may have acquired at least some degree of immunological protection. At this point, it has not been established whether the presence of IgG antibodies is an indicator of immunity to SARS-CoV-2 infection or re-infection, as seen with many other viral infectious diseases. Serological testing will also be used to assess health care workers who are suspected of having COVID-19, but not tested by PCR and are recovering at home under quarantine. McLawhon said the twin Diazyme tests have shown high sensitivity and specificity, particularly compared to most point-of-care, rapid-response serological tests for novel coronavirus now flooding the international market. Thus far, only one rapid serological test, which claims a result within 15 to 20 minutes, has received Emergency Use Authorization from the U.S. Food and Drug Administration (FDA). “There are a lot of these unproven rapid tests out there. Some are performed using technology found in today’s pregnancy tests, using a drop of blood,” said McLawhon. “But none have gone through FDA review nor have they been validated in terms of their clinical performance. Many do not perform well. The results aren’t clear-cut. There’s a lot of subjectivity in user interpretation. And, they can do only one sample at a time, which means a staff member might reasonably be able to collect and complete between four to a dozen tests in an hour.” Aside from identifying past coronavirus exposure, serological testing will likely be a valuable epidemiological tool. There are expansive plans to use blood tests to map where the virus has spread, which cities, states and regions may have developed some degree of “herd immunity” to future outbreaks and which places and populations remain at greatest risk. The Centers for Disease Control has announced plans for three such clinical trials across the country. Serological (antibody) tests are not considered frontline tests for detecting a current or active infection. They have clear limitations for diagnosing new coronavirus infections because the immune response and antibody production varies by individual. There is often a lag of several days — as much as five to 10 days — between initial virus exposure and the first produced antibodies detected in the blood. During this time, called the “window period,” an infected person can be contagious, but may not be displaying any symptoms. “You can’t use the serological testing to differentiate timing of infection,” said Michael J. Kelner, MD, director of the Clinical Chemistry Laboratory at UC San Diego Health. “They can’t be done in lieu of a PCR test. But they can tell us who has been exposed — or not — and that’s important. As we go forward, we’ll see if they can help answer more questions.” The coronavirus blood testing program at UC San Diego Health is, for now, open-ended. “The greatest strength of our laboratory program at CALM is the team of clinicians who bring different expertise to the problem of managing this pandemic,” said Steve Gonias, MD, PhD, chair and chief of the Department of Pathology at UC San Diego School of Medicine. “As a team, our goal is to continue to develop the most advanced assortment of diagnostic laboratory tests to assess COVID-19 in the state.” “There are worries about subsequent waves of outbreaks elsewhere or that the virus might reappear in places,” said McLawhon. “No one can yet say what will happen. Right now, I’m guessing we’ll be doing this type of testing for at least another 18 months. Or until a vaccine is developed. Or for as long as there continues to be a global pandemic.” To read the original article click here.

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