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[mariebenz]

TUFT's GEMINI Study Finds Whole Genomic Sequencing Identifies More Pathogenic Genes than Targeted Panels

MedicalResearch.com Interview with:

Dr. Davis Prof. Jonathan Davis, MD, Chief of Newborn Medicine Tufts Medical Center and

Dr. Maron   Jill Maron, MD, MPH Chief of Pediatrics Executive Director, Mother Infant Research Institute Vice Chair, Pediatric Research, Tufts Medical Center Women & Infants Hospital of Rhode Island   MedicalResearch.com: What is the background for this study? Response: The Genomic Medicine for Ill Neonates and Infants (GEMINI) trial was designed to be the first comparative study to explore the diagnostic yield, clinical utility and time to diagnosis between whole genomic sequencing (WGS) and a targeted genomic sequencing panel specifically designed to detect gene disorders that present in early life. GEMINI was a US based study that enrolled 400 hospitalized infants, along with their available parents, suspected of having an undiagnosed genetic diagnosis. Every participant underwent testing on each platform simultaneously, allowing us to better understand the limitations and advantages of each approach. MedicalResearch.com: What are the main findings? Response:  GEMINI found that genomic sequencing technologies were able to identify at least one pathogenic, likely pathogenic, or highly suspicious VUS in 51% of enrolled patients < 1 year of life. These diagnostic yields are comparable to other recently reported studies (range 25-50%). However, while the targeted test returned results sooner than whole genomic sequencing (6 days vs. 3 days), WGS had nearly double the diagnostic yield (49% v 27%). Thus, in these high-risk infants suspected of having a genetic disorder, WGS was >10 times more likely to make a diagnosis compared to the targeted test. This disparity is partly due to the large number of infants who were found to have structural variants not detected by the targeted test and/or gene variants not currently included on the targeted test.  MedicalResearch.com: What should readers take away from your report? Response: There were many aspects to the GEMINI study that made it unique. Not only was it the first study to perform a comparative analysis of the diagnostic yield, clinical utility, and time to diagnosis between WGS and a targeted neonatal genomic sequencing test, but it also included detection of a suspicious VUS in calculating diagnostic yield. A suspicious VUS was defined as a variant found in a gene suspected of causing the presenting phenotype and was reported to the clinical care team to inform medical management. In a number of these cases, care was modified based on this reporting. Most importantly, when both tests detected the same genetic variant, their interpretation on the importance of the findings were different 40% of the time. MedicalResearch.com: What recommendations do you have for future research as a results of this study? Response: The broad Inclusion criteria in GEMINI reinforced our lack of understanding of early life presentation of many genetic diseases. GEMINI identified 134 novel variants among infants < 1 year of age and the ultimate diagnosis was only suspected by consulting geneticists 33% of the time. Many variants detected by WGS were not identified by the targeted test and would not have been detected even if whole exome sequencing had been performed. The overall result of these data suggest that WGS has a higher diagnostic yield in these high risk populations. It should also be noted that surveyed clinicians highly valued access to these genetic platforms, even if a diagnosis was not made. GEMINI did highlight differences in variant classification that can occur between laboratories despite having access to the same clinical and phenotypical data for interpretation. Clinicians need to be cognizant that it is the interpretation of the genome that drives diagnostic rates, not simply the sequencing. Thus, a negative report by one laboratory may not be recapitulated by another. GEMINI serves as a reminder that while our technology has streamlined the pipeline from sequencing to variant call, much work remains on how to best standardize the interpretation of the genome to better inform clinical care. MedicalResearch.com: Is there anything else you would like to add? Any disclosures? Response: This study strongly supports the position that Medicaid and Commercial Insurance carriers should cover WGS (whose costs are decreasing as the technology improves). The early diagnosis should also open tremendous opportunities for industry to develop many other novel genomic approaches to successfully treat many genetic disorders, many of which are currently fatal. All disclosures are listed in the JAMA article.   Citation: Maron JL, Kingsmore S, Gelb BD, et al. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder. JAMA. 2023;330(2):161–169. doi:10.1001/jama.2023.9350 The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.     Read the full article

[timrileyauthor]

Favorited Tweet by EmersonCollNews

Emerson College will house about 100 medical professionals from @TuftsMedicalCtr during the #COVIDー19 pandemic. https://t.co/tIXG9A3yB5

— Emerson College News (@EmersonCollNews) April 10, 2020

from http://twitter.com/EmersonCollNews via IFTTT

[kidneystories2013]

PKD Foundation Retweeted Catherine Marcangelo @cmarcangelo Here we are 1 year after transplant !! Grateful everyday day for the gift I received from my son .Filled with gratitude for the great care received at @TuftsMedicalCtr # EndPKD,#DonateLife @PKDFoundation @DLNewEngland (at Lake County, Indiana)

[cenestorax]

Tweeted

RT NEJMRT TuftsMedicalCtr: Dr. Ronald Perrone co-authored a new paper in NEJM on effect of #tolvaptan on kidney fu… https://t.co/raSG6p0mmX

— CENESTORAX (@cenestorax) November 6, 2017

[mariebenz]

Researchers Question Value of Opioids in Osteoarthritis Treatment

MedicalResearch.com Interview with:

Dr. Bannuru Raveendhara R. Bannuru MD, PhD, FAGE Director, Center for Treatment Comparison and Integrative Analysis (CTCIA) Deputy Director, Center for Complementary and Integrative Medicine (CCIM) Asst Professor of Medicine, Tufts University School of Medicine Asst Professor of Clinical & Translational Science, Sackler School of Graduate Biomedical Sciences Division of Rheumatology, Tufts Medical Center Boston, MA MedicalResearch.com: What is the background for this study? Response: Given the current controversy regarding the use of opioids in chronic pain, we wanted to delve deeper into the efficacy and safety profiles of oral opioid drugs in osteoarthritis patients. Temporal assessments like ours can reveal peak periods of efficacy, and can provide clinicians with a blueprint for optimal durations of treatment regimens. With respect to subgroup analyses based on strength of opioid binding affinity, we sought to explore currently held paradigms that strong opioids may be useful for the treatment of severe pain, and to specifically assess their relevance in OA populations. Knowledge of the relative efficacy and safety profiles of strong versus weak opioids can give clinicians the information they need to weigh benefits and harms of specific subgroups of opioids. MedicalResearch.com: What are the main findings?  Response: Overall opioids demonstrated only small effects on pain and function that did not “peak” at any point over the 12-week period assessed. Conversely, participants who received opioids were significantly more likely to experience adverse events leading to discontinuation or discomfort. One of the most interesting findings from our study is the underperformance of strong opioids. The most likely explanation for this could be the relationship between pain relief and the tolerability of opioids based on dose. MedicalResearch.com: What should readers take away from your report? Response: In light of these results, and in the context of a rapidly shifting paradigm for pain management, clinicians and policy makers should reconsider the utility of opioids in the management of osteoarthritis. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: Future research may focus on qualitative assessments of patient preference and experience with opioid treatment, to garner a holistic understanding of their impact on patients’ daily lives. More nuanced responder analyses may also provide valuable information about patient populations that could still benefit from the use of these drugs. No disclosures Citation:  2019 ACR/ARP presentation: Is There Any Role for Opioids in the Management of OA? https://acrabstracts.org/abstract/is-there-any-role-for-opioids-in-the-management-of-oa/ Last Modified: The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.   Read the full article

[mariebenz]

USPSTF: Recommends All Adults Be Screened for Hypertension

MedicalResearch.com Interview with:

Dr. Wong John B. Wong, M.D. Chief Scientific Officer Vice chair for Clinical Affairs Chief of the Division of Clinical Decision Making and Primary care Clinician Department of Medicine at Tufts Medical Center   MedicalResearch.com: What is the background for this study? Response: Hypertension affects nearly half of all adults in the United States and is a major risk factor for many serious health conditions. Fortunately, by screening all adults for hypertension, clinicians can improve their patient’s health. The Task Force continues to recommend screening all adults for hypertension so that they can get the care they need to help prevent health conditions such as heart attack, stroke, and kidney failure. MedicalResearch.com: What are the main findings? At what age should patients consider getting their blood pressure checked?  How often? Response: Hypertension can increase an individual’s risk for heart attacks, heart disease, strokes, and kidney disease. To prevent those serious conditions from occurring, the Task Force recommends that all adults who are 18 and older be screened for hypertension. The Task Force suggests that those 40 and over, and those at increased risk for hypertension, be screened annually. Risk factors for hypertension include older age, family history, excess weight, lifestyle habits, and dietary factors. For adults between the ages of 18 and 39 with no existing risk factors, screening is still recommended but can be done less often. In all cases, screening for hypertension should first be done at the clinician’s office. If blood pressure is high, it should be measured outside of the office. If someone’s blood pressure outside of the office is also high, the clinician will diagnose hypertension that should then be treated. MedicalResearch.com: What should readers take away from your report? Response: Individuals usually cannot feel when they have high blood pressure, so most people would not know they have hypertension, or repeatedly high blood pressure measurements, unless they were screened or had a heart attack or stroke caused by hypertension. Screening allows hypertension to be identified and treated in a timely manner, so patients can be connected to the care they need to help them live longer, healthier lives. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: More research is needed on whether screening for other types of hypertension can improve health. For example, blood pressure readings could only be high in the clinician’s office but not at home, or blood pressure readings could only be high at home but not in the clinician’s office. The Task Force calls for more research for these other types of hypertension and for optimal screening approaches for all types of hypertension in diverse and underrepresented populations. MedicalResearch.com: Is there anything else you would like to add? Response: What’s really important to remember is that many people in America have hypertension that can be silent and undiagnosed until too late, when a heart attack or stroke occurs. The science and evidence show that adults should have blood pressure screening at their clinician’s office. If the blood pressure is high, they should talk with their clinician about having their blood pressure re-checked outside of the clinician’s office. This clarifies whether someone has high blood pressure readings only in the office or has high blood pressure readings in the office and in other settings. This difference helps clinicians know how best to care for their patients. Additionally, we recognize that not all hypertension screening approaches outside of the office are feasible for everyone, so we encourage healthcare clinicians to talk with their patients about what works best for them. Citations: Guirguis-Blake JM, Evans CV, Webber EM, Coppola EL, Perdue LA, Weyrich MS. Screening for Hypertension in Adults: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA. 2021;325(16):1657–1669. doi:10.1001/jama.2020.21669 US Preventive Services Task Force US Preventive Services Task Force; Alex H. Krist, MD, MPH; Karina W. Davidson, PhD, MASc; Carol M. Mangione, MD, MSPH; Michael Cabana, MD, MA, MPH; Aaron B. Caughey, MD, PhD; Esa M. Davis, MD, MPH; Katrina E. Donahue, MD, MPH; Chyke A. Doubeni, MD, MPH; Martha Kubik, PhD, RN; Li Li, MD, PhD, MPH; Gbenga Ogedegbe, MD, MPH; Lori Pbert, PhD; Michael Silverstein, MD, MPH; James Stevermer, MD, MSPH; Chien-Wen Tseng, MD, MPH, MSEE; John B. Wong, MD USPSTF Recommendation: Screening for Hypertension in Adults The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.   Read the full article

[mariebenz]

USPSTF: Recommends All Adults Be Screened for Hypertension

MedicalResearch.com Interview with:

Dr. Wong John B. Wong, M.D. Chief Scientific Officer Vice chair for Clinical Affairs Chief of the Division of Clinical Decision Making and Primary care Clinician Department of Medicine at Tufts Medical Center   MedicalResearch.com: What is the background for this study? Response: Hypertension affects nearly half of all adults in the United States and is a major risk factor for many serious health conditions. Fortunately, by screening all adults for hypertension, clinicians can improve their patient’s health. The Task Force continues to recommend screening all adults for hypertension so that they can get the care they need to help prevent health conditions such as heart attack, stroke, and kidney failure. MedicalResearch.com: What are the main findings? At what age should patients consider getting their blood pressure checked?  How often? Response: Hypertension can increase an individual’s risk for heart attacks, heart disease, strokes, and kidney disease. To prevent those serious conditions from occurring, the Task Force recommends that all adults who are 18 and older be screened for hypertension. The Task Force suggests that those 40 and over, and those at increased risk for hypertension, be screened annually. Risk factors for hypertension include older age, family history, excess weight, lifestyle habits, and dietary factors. For adults between the ages of 18 and 39 with no existing risk factors, screening is still recommended but can be done less often. In all cases, screening for hypertension should first be done at the clinician’s office. If blood pressure is high, it should be measured outside of the office. If someone’s blood pressure outside of the office is also high, the clinician will diagnose hypertension that should then be treated. MedicalResearch.com: What should readers take away from your report? Response: Individuals usually cannot feel when they have high blood pressure, so most people would not know they have hypertension, or repeatedly high blood pressure measurements, unless they were screened or had a heart attack or stroke caused by hypertension. Screening allows hypertension to be identified and treated in a timely manner, so patients can be connected to the care they need to help them live longer, healthier lives. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: More research is needed on whether screening for other types of hypertension can improve health. For example, blood pressure readings could only be high in the clinician’s office but not at home, or blood pressure readings could only be high at home but not in the clinician’s office. The Task Force calls for more research for these other types of hypertension and for optimal screening approaches for all types of hypertension in diverse and underrepresented populations. MedicalResearch.com: Is there anything else you would like to add? Response: What’s really important to remember is that many people in America have hypertension that can be silent and undiagnosed until too late, when a heart attack or stroke occurs. The science and evidence show that adults should have blood pressure screening at their clinician’s office. If the blood pressure is high, they should talk with their clinician about having their blood pressure re-checked outside of the clinician’s office. This clarifies whether someone has high blood pressure readings only in the office or has high blood pressure readings in the office and in other settings. This difference helps clinicians know how best to care for their patients. Additionally, we recognize that not all hypertension screening approaches outside of the office are feasible for everyone, so we encourage healthcare clinicians to talk with their patients about what works best for them. Citations: Guirguis-Blake JM, Evans CV, Webber EM, Coppola EL, Perdue LA, Weyrich MS. Screening for Hypertension in Adults: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA. 2021;325(16):1657–1669. doi:10.1001/jama.2020.21669 US Preventive Services Task Force US Preventive Services Task Force; Alex H. Krist, MD, MPH; Karina W. Davidson, PhD, MASc; Carol M. Mangione, MD, MSPH; Michael Cabana, MD, MA, MPH; Aaron B. Caughey, MD, PhD; Esa M. Davis, MD, MPH; Katrina E. Donahue, MD, MPH; Chyke A. Doubeni, MD, MPH; Martha Kubik, PhD, RN; Li Li, MD, PhD, MPH; Gbenga Ogedegbe, MD, MPH; Lori Pbert, PhD; Michael Silverstein, MD, MPH; James Stevermer, MD, MSPH; Chien-Wen Tseng, MD, MPH, MSEE; John B. Wong, MD USPSTF Recommendation: Screening for Hypertension in Adults The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.   Read the full article

[mariebenz]

Access to Pharmaceutical Biosimilars Varies with Insurance Plan

MedicalResearch.com Interview with:

Dr. Chambers James D. Chambers, PhD, MPharm, MSc Associate Professor of Medicine Tufts Medical Center Institute for Clinical Research and Health Policy Studies MedicalResearch.com: What is the background for this study? Response: We know that biosimilars have not had the same uptake in the US as they have had elsewhere. We know that this is in part due to reference product manufacturer tactics to delay biosimilar market entry and patent disputes. In this study we examined whether lack of preferred coverage by commercial health insurers may also play a role. MedicalResearch.com: What should readers take away from your report?  Response: That patients’ access to biosimilars is unequal across insurance plans. This means that physicians must tailor their treatment choices not only to a patient’s clinical presentation, but also to their insurance coverage. Also, that a lack of preferred coverage by US health plans may be a factor in biosimilars mixed success to date. MedicalResearch.com: What recommendations do you have for future research as a result of this work? Response: We will continue to monitor how commercial health insurers cover biosimilars to determine if this trend continues. We also plan to extend this work to evaluate to what extent a lack of preferred coverage affects utilization, and also patient’s health outcomes.  MedicalResearch.com: Is there anything else you would like to add? Response: I would only like to add that this paper is part of our larger effort to better understand how health plans cover specialty products for their enrollees. The variation in biosimilar coverage we identified is consistent with variation we have found for specialty products more generally. However, given that the intent of biosimilars is to reduce costs, we were surprised by the lack of preferred coverage among many of the included commercial insurance plans. I have no disclosures. Citation: Chambers JD, Lai RC, Margaretos NM, Panzer AD, Cohen JT, Neumann PJ. Coverage for Biosimilars vs Reference Products Among US Commercial Health Plans. JAMA. 2020;323(19):1972–1973. doi:10.1001/jama.2020.2229   The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.   Read the full article