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November 10, 2022

Identifying genes that control our 'metabolic individuality' and disease risk

by Queen Mary, University of London

A new study co-led by Queen Mary University of London's Professor Claudia Langenberg, newly appointed Director of the Precision Healthcare University Research Institute, undertaken in her prior roles at the Berlin Institute of Health at the Charité (BIH) and University of Cambridge, and Professor Adam Butterworth at the University of Cambridge, has discovered more than 300 regions in the genome that contribute to a person's 'chemical fingerprint'.

Everybody has a 'chemical fingerprint' characterized by the composition of small molecules in the blood, such as fats or sugars. It is determined by both our genes and external factors and contributes to which diseases we are susceptible to, as well as how severe an illness will be.

In the new study, published in Nature Medicine , the international team discovered rare and common changes in the genetic code that influence this metabolic individuality and its impact on health and disease .

Adam Butterworth explains, "With our study, we are finally illuminating the genetic control of our metabolism based on many hundreds of small circulating molecules and demonstrating how such variation affects the onset of diverse diseases."

The scientists measured the levels of more than 900 small molecules in blood samples from over 14,000 participants in two large UK population studies—the INTERVAL study and the EPIC-Norfolk study—whose genetic code had also been analyzed. They identified 330 regions in the genome that are linked to the levels of 646 different metabolites, with most regions linked to several metabolites, and vice versa.

Crucially, the new findings enabled the researchers to show which changes in metabolism contribute to the development of individual diseases. Claudia Langenberg said, "These metabolic 'hotspots' in the genome have helped us to better understand which genes are relevant to the changing amounts of molecules in the blood, with these new findings, we were then able to show which changes in metabolism contribute to the development of individual diseases, such as breast cancer."

Metabolism and responses to treatment

The variations in the metabolic 'hotspots' in the genome do not only play a role in a healthy metabolism or disease susceptibility. They scientists also identified variations that affect how impactful drugs are, and the severity of their harmful effects.

For example, the researchers found that about one fifth of the study participants had variations in the genetic code close to the DPYD gene. DPYD encodes for an enzyme that is responsible for breaking down certain common cancer chemotherapy drugs. People with these genetic variants are at an increased risk of accumulating elevated levels of these drugs and consequently more severe effects.

Claudia Langenberg added, "Variations near genes that are also the target of drugs can give us clues about possible unwanted side effects. For example, we were able to show that drugs that reduce the conversion of steroid hormones in the body and thus counteract male hair loss and prostate enlargement may increase the risk of depression, which is consistent with reports from drug studies."

Excitingly, information about an individual's chemical fingerprint and the genomic variations that underpin it could help clinicians to more effectively tailor treatments to individual patients, and Professor Langenberg is already leading a new initiative to support this, saying, "We need larger studies that better map the genetic diversity of different populations to understand the biological and clinical effect of genetic variations that differ between certain populations."

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UCI announces launch of Institute for Precision Health

Individually tailored wellness approach is giant leap in patient control, improved outcomes

Irvine, Calif., Feb. 15, 2022 — The University of California, Irvine today announced the launch of the Institute for Precision Health, an endeavor that marries UCI’s powerhouse health sciences, engineering, machine learning, artificial intelligence, clinical genomics and data science capabilities to deliver the most effective health and wellness strategy for each individual person and, in doing so, confronts the linked challenges of health equity and the high cost of care.

The institute will bring a multifaceted, integrated approach to what many call the next great advancement in healthcare. Precision medicine collects patient data – history, exams, demographics, molecular and diagnostic tests – and uses the power of computer algorithms, predictive modeling and AI to develop personalized treatment and lifelong health maintenance plans.

“What we’re doing at the Institute for Precision Health is perhaps the most important step we’ll take in this generation to improve health and well-being,” said Steve A.N. Goldstein, M.D., Ph.D., FAAP, UCI’s vice chancellor for health affairs. “The ever-evolving capabilities of the IPH herald a future of personally tailored care that fundamentally alters the healthcare landscape to place the patient at the center and in control.

“In the past, individuals were treated based on approaches thought to be best for groups of patients. Now we begin the IPH epoch of patient-centric care designed to continuously improve the health of the individual within their community, even as new knowledge accrues, whereby rights, incentives, transparency and control remain the purview of the patient,” Goldstein added.

IPH is an ecosystem for collaboration across disciplines that comprises seven areas:

• SMART (statistics, machine learning, artificial intelligence) develops novel statistical methodology to integrate and analyze health records, molecular data and observational clinical outcomes. The unit is led by Daniel Gillen, professor and chair of statistics, and Zhaoxia Yu, associate professor of statistics.
• A2IR (applied artificial intelligence research) translates machine learning methods into deployable solutions addressing clinical problems and matching the cost of care to its value. This unit is led by Peter Chang, assistant professor-in-residence of radiological sciences.
• A3 (advanced analytics and artificial intelligence) brings novel solutions to improve health and wellbeing to ambulatory and impatient settings. The unit is led by Daniel Chow, assistant professor-in-residence of radiological sciences.
• Precision omics generates and translates genomic, proteomic and metabolomic research results into clinical applications. This unit is led by Suzanne Sandmeyer, professor in biological chemistry and director of the genomics high-throughput facility, and Leslie Thompson, Donald Bren professor and Chancellor’s Professor in psychiatry & human behavior and neurobiology & behavior.
• Collaboratory for health and wellness (powered by Syntropy) provides the ecosystem that fosters collaboration across disciplines through the integration of health-related data sources. The unit is led by Kai Zheng, chief research information officer of Health Affairs, and Tom Andriola, vice chancellor for information technology and data.
• Deployable equity  engages community stakeholders and health-equity groups to create solutions that narrow the disparities gap in the health and wellbeing of underserved and at-risk populations. The unit is led by Dan Cooper, professor of pediatrics and director of the UCI Institute for Clinical and Translational Science, and Bernadette Boden-Albala, professor and director of the Program of Public Health and founding dean of the planned School of Population & Public Health.
• Education and training , with leadership from each of the above areas, brings courses, seminars, certificates and degrees in statistics, machine learning-artificial intelligence, omics, and bioinformatics to practitioners and students.

UCI_PH_Infographic_v5-2

Because the disciplines included in IPH already existed at UCI, Goldstein noted, it was in many ways only a small step to join them together and build a resource across campus. The synergy created, however, is no small matter. “This is the giant leap for healthcare. It’s glaringly clear that precision health is how to increase the quality of care, to decrease the cost of care – by both improving how it’s delivered and matching cost to value – and to deliver quality healthcare to the underserved,” he said, adding that the institute’s success will be measured by improvements in individual and community health.

A major goal is revealing new approaches to tackle ailments that lack successful therapies. “For many diseases – especially neurodegenerative ones like Alzheimer’s, Parkinson’s and even Huntington’s, where the causal gene is known – there are simply no treatments available that change their course. We’re excited because we know that with precision health, we have the potential to define diseases better, understand them better and treat them far better,” said Thompson, IPH co-director. “We expect major breakthroughs.”

While the vision idea for IPH has long been in the works, the COVID-19 pandemic was a beta test demonstrating how rapidly critical medical needs could be addressed. In early 2020, with elements of IPH in place, UCI clinicians, biomedical and computer scientists, and public health experts joined forces to create an AI-driven tool to assess the critical care needs of COVID patients. This app-based tool, the COVID Vulnerability Index, demonstrated that a data-driven approach coupled with world-class clinical therapeutics could help yield the best outcomes for individuals.

“We couldn’t have had a ‘proof of concept’ with higher stakes than the pandemic,” said Tom Andriola, IPH co-director. “We saw in real time how mobilizing our capabilities to analyze health data and make customized decisions could complement leading-edge clinical treatments to save lives and reduce hospital stays.”

“Additionally, there is an explosion of data in healthcare, and we’re still only using a small fraction in decision-making,” he added. “IPH is including not only data from traditional healthcare settings but also the data coming from a new generation of empowered health consumers who are tracking and managing their own health journey.”

The plan is for IPH to have a brick-and-mortar home on the UCI campus that will serve as a hub for educating data-informed clinicians to practice at the top of their licenses, a site for the infrastructure to facilitate translational research, a place for community outreach and a venue for commercial collaborations. Already, industry leaders such as Syntropy and MITRE and community partners such as Children’s Health of Orange County and the VA Long Beach Healthcare System are working with IPH to leverage UCI’s capabilities and commitment as a fair broker for health data, placing individuals first.

“For patients, the message is that UCI’s Institute for Precision Health is the future of your care and well-being,” Goldstein said. “For the research community, IPH is a wide-open opportunity for discoveries that matter. For the business community, IPH is ready to partner to advance new, cost-effective care. And for the philanthropic community – the folks who are determined to change the world – this is it. This is your chance.”

About UCI’s Brilliant Future campaign:  Publicly launched on Oct. 4, 2019, the Brilliant Future campaign aims to raise awareness and support for UCI. By engaging 75,000 alumni and garnering $2 billion in philanthropic investment, UCI seeks to reach new heights of excellence in student success, health and wellness, research and more. Learn more by visiting  brilliantfuture.uci.edu .

Media:  Please see the accompanying infographic detailing IPH’s structure. Additional resources for journalists may be found at  communications.uci.edu/for-journalists . Radio programs/stations may, for a fee, use an on-campus ISDN line to interview UCI faculty and experts, subject to availability and university approval. For more UCI news, visit  news.uci.edu .

About the University of California, Irvine: Founded in 1965, UCI is the youngest member of the prestigious Association of American Universities and is ranked among the nation’s top 10 public universities by U.S. News & World Report . The campus has produced five Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UCI has more than 36,000 students and offers 224 degree programs. It’s located in one of the world’s safest and most economically vibrant communities and is Orange County’s largest employer, contributing $7 billion annually to the local economy and $8 billion statewide. For more on UCI, visit www.uci.edu .

About UCI Health Affairs:  Founded in 2017 with a $200 million gift from Orange County philanthropists Susan and Henry Samueli, UCI Health Affairs is a first-of-its-kind health science enterprise and is unique to Orange County, California. Together, the  Susan & Henry Samueli College of Health Sciences , UCI Health,  and   health-focused centers and institutes   form  UCI Health Affairs , led by Vice Chancellor Steve A.N. Goldstein, M.D., Ph.D., FAAP. Health Affairs has a tripartite mission to “discover, teach, heal” in the service of creating the diverse healthcare workforce of the future and driving scientific discoveries to advance wellness, precision care and health equity. The college comprises the School of Medicine, the Sue & Bill Gross School of Nursing, the recently launched School of Pharmacy & Pharmaceutical Sciences, the planned School of Population & Public Health and the Susan Samueli Integrative Health Institute. The research centers and institutes are focused on cancer, clinical translational science, precision health informatics, clinical trials and stem cells.  UCI Health  is the only academic health system in Orange County, the sixth-largest county in the nation. UCI Health Affairs is transforming education, discovery and patient care to benefit the region, state and nation. For more, visit https://www.cohs.uci.edu/about/index.php .

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Duke launches the Center for Precision Health dedicated to advancing patient health with genomic research

The Duke Clinical and Translational Science Institute (CTSI) recently launched the Center for Precision Health ( CPH ), the result of a collaboration between CTSI and the Precision Genomics Collaboratory which focuses on how genomic research can transform patient health. 

Led by Director of the CPH Svati Shah and Julie Eckstrand, executive director of the CPH, the Center aims to create a network through which Duke scientists and researchers in health data and genetics will be connected to clinical departments to work together to expand clinical genetics and its relevant research for improved personalized healthcare. 

“The vision of our Center for Precision Health is to harness the power of genomic biomarker and health data to transform patient care and population health,” Shah said. 

According to Shah, precision health is a field of medicine focused on personalizing medical treatments according to the patient’s specific needs — genetics, health of a patient’s systems and what type of medicine works best for their specific context. 

Shah notes that traditional healthcare uses data-driven solutions based on outcomes from an aggregate of patients, and while precision health has had some success, it hasn’t translated into larger success due to a disconnect between research and clinics. Shah and the CPH seek to change that. 

According to Shah, the work scientists are doing will be integrated with the clinical aspects of healthcare to create a more comprehensive, effective profile for patients using data on genetics. 

The new center will have programs including population genetics, translational discovery, precision health education and community engagement and ethics. 

The population genetics program will employ precision health to help patients learn about diseases they are at risk of and may already have, helping their progress in their “diagnostic odyssey,” according to Shah. The translational discovery program will help progress research into precision health and genetics. 

The center will also serve as the home for OneDukeGen , Genomic Sequencing Study and Biorepository, a research study regarding genomic medicine. 

Here, biological samples are collected and analyzed for use in research related to different types of diseases, with major potential for discovery and analysis. This work will be performed on 150,000 Duke Health patients and research study participants, providing them with advice relating to their personal health decisions. 

“There's so many different components of Duke, but really, [OneDukeGen] is about integrating the School of Medicine with the health system and all the other people that we need to make sure we do this right,” Shah said.

Community engagement involves providing the local Durham and broader Research Triangle communities with the resources to understand the ties between genetics and disease. The program also has an ethical arm dedicated to understanding the impact of genomic medicine, and “making sure that what we're doing is the right thing for our patients and our community,” Shah said.

The precision health education program aims to teach healthcare practitioners and providers about precision health’s basics, while training new generations of precision health research professionals.  

She also noted ethical concerns that had been brought up by clinicians.

“[People are] consenting for a research study, but they're gonna become patients, when we tell them, ‘Hey, you have this genetic risk [or disorder].’ It's like this blurred line between research and patient care.” 

These concerns, as well as other potential issues, are continuously being addressed by the CPH to maintain their commitment to the community, according to Shah. 

Additionally, the CPH will be taking actions to ensure community members are continuously able to provide feedback on Duke’s precision health program. Shah mentioned that there is a community advisory board already in place, for example. 

With the ultimate goal of improving the health of the Durham community, alongside building engagement and trust, community members had surprising reactions. 

“I thought there'd be a lot of pushback on this,” Shah said. “I think it was actually almost uniformly really, really positive. I'm already getting emails from just random people saying, ‘Can I be part of the study?’”

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MUSC shines spotlight on precision health, which research leader calls a top priority

The Medical University of South Carolina is putting precision health front and center, bringing together experts to talk about what it is, how it’s being used and what the future may hold. MUSC recently held a Precision Health Research Symposium, led by Lori L. McMahon, Ph.D. , vice president for Research and a professor of Neuroscience.

“The landscape of medicine and health care is undergoing significant transformation with precision health as a top priority. This evolution is a result of our deepening understanding of genomics and data science, which has opened the door for more precise, individualized health care,” McMahon said.

The event included speakers from MUSC, the University of Alabama-Birmingham, the HudsonAlpha Institute of Biotechnology, Helix and the Greenwood Genetic Center. They talked about the roles of data, genomics, research and systems in precision health.

Precision health through data

Matt Might, Ph.D., director of the Hugh Kaul Precision Medicine Institute at UAB, made a bold prediction: Historians will see data, a key aspect of precision health, as the biggest treatment of this century.

“I see precision medicine, really, as this field that delivers data as a drug. To do it right, precision medicine really needs computation. There's no way around managing the massive amounts of data from genomes to images without heavy intervention from computation.” 

Computation is key, he said, in addition to other help from technology, including artificial intelligence. Mightgave a real-life example of how AI can improve patient care. It involved a 19-year-old woman named Kelsey who was suffering from intractable cyclic vomiting syndrome. “I think she was 5 feet, 4 inches tall, but weighed 75 pounds. She was severely malnourished at this point, suffering dozens of vomiting episodes per day,” Might said.

“Her medical team said, ‘Look, we've tried everything that we know about in this case, and nothing seems to be working.’ But everything they tried totaled 25 things. To be fair, 25 things is a lot. But it's not absolutely everything.”

So Might and his team, experts in precision medicine, put their technological skills to work. They used artificial intelligence to scan millions of medical research articles about nausea and unearthed a treatment that hadn’t been tried with Kelsey: nasally inhaled isopropyl alcohol. 

To their relief, it worked. Kelsey’s life changed dramatically.

“If you fast forward eight months, not only has she not vomited since, but she was able to use this again to successfully arrest every episode of nausea. She was up to 125 pounds. And she was feeling well enough to get married,” Might said. 

Precision health through genomics

Not every precision health story ends with a wedding but some do include life-changing diagnoses, treatments and more. And they begin, in some cases, with the use of genomics.

Genomics is the study of a person’s genes and how they interact with each other and the environment. Bruce Korf, M.D., knows a lot about that. He serves as associate dean for Genomic Medicine at the UAB School of Medicine and chief genomics officer. 

Korf’s talk at MUSC focused on how genetic information can help patients, particularly people with rare diseases. Doctors refer patients to his team, which looks at their cases and when needed, performs genetic testing. That sometimes leads to a diagnosis that wasn’t obvious before. That, in turn, can lead to the right treatments.

And Korf sees an even greater role for genetic testing in the future – despite mixed public perceptions about it. “How do you get clinicians to use genetic and genomic testing in day-to-day practice? Some clinics are really eager to adopt genetic testing, while others are more hesitant,” he said.

As technological innovation, clinical utility, implementation and education continue to evolve, Korf said genomics and precision health will become more routine. “I think if you went to sleep and woke up in 20 years, you would not recognize the practice of medicine.”

And that could have big benefits, not only for people with rare diseases but also more common ones such as Parkinson’s and Alzheimer’s. Speaker Richard Myers, Ph.D., chief scientific officer, faculty investigator and president emeritus of the HudsonAlpha Institute for Biotechnology, talked about studying the genetics of neurodegenerative diseases. “It’s slow going but really important,” he said.

Also important, in his view: encouraging the public to participate in programs such as  In Our DNA SC , a statewide effort to improve access to personalized health care and create a genetic and research database.  Alabama has its own version . Both rely on the public’s willingness to get involved.

“Why do people participate in a population-facing component? They want to contribute to research and have an interest in their own future health. They want to help their children and grandchildren,” Myers said.

Precision health’s role in research

That idea of looking toward the future, a future with new health care options for a range of ailments, informs the work of researchers using precision health.

Several speakers talked about that, including Dan Judge, M.D., a professor in the College of Medicine at MUSC and the leader of  In Our DNA SC . In Our DNA SC’s genetic and research database will help scientists for years to come. “We need to go from a disease-first to a gene-first approach. Let genetics lead the diagnosis,” Judge said.

Other scientists weighed in on the role of precision health in research by highlighting how they’re using it, including: 

• Alain Greige, an M.D.-Ph.D. student of Neuroscience at MUSC. He’s working with Christopher Cowan, Ph.D., chair of the Department of Neuroscience, on an RNA-based approach to treating neurodevelopmental disorders.
• Steve Duncan, Ph.D., chair of Regenerative Medicine and Cell Biology at MUSC. He’s looking at possible treatments for a genetic disorder that causes high cholesterol levels.
• Saverio Gentile, Ph.D., associate professor in the Department of Cell and Molecular Pharmacology and Experimental Therapeutics at MUSC. He’s looking for new ways to target and treat cancer.
• John Wrangle, M.D., associate professor in the College of Medicine who treats patients in Hollings Cancer Center. He gave a broader take on the role of precision health in cancer research.

Precision health systems

These research projects wouldn’t be possible without a systematic approach. And as the name suggests, precision health requires precision when it comes to the systems needed to implement it. 

Caitlin Allen, Ph.D. , an assistant professor in the Department of Public Health Sciences at MUSC and the director of Outreach and Implementation Research for In Our DNA SC, was among the speakers talking about getting systems in place to leverage precision health on a large scale, with attention paid to including everyone. 

And representatives of Helix, a population genomics company and MUSC partner for In Our DNA SC, talked about standardizing the process of screening for health conditions. Nicole Washington, Ph.D., director of Research and Clinical Informatics at Helix, talked about a new approach. “The use of genomics in health care today is inefficient and inadequate. We need to change the model of how it’s done.”

Here's one way she suggested doing that when it comes to genomic screening. “Stop treating it like a one-off. We’re proposing going back into that sequence as much as possible for a patient’s lifetime. Sequence once, query often.”

Finally, representatives of the Greenwood Genetic Center, Rich Steet, Ph.D., and Heather Flanagan-Steet, Ph.D., discussed integrating research into clinical genetics care. Their South Carolina nonprofit provides genetic services, diagnostic testing, educational programs, resources and research into medical genetics. The partnership between GGC and MUSC combines the expertise of both organizations to expand services across the state and further their capability to improve prevention, diagnosis and treatment of diseases.

Precision health going forward

So what’s next? A lot, according to host McMahon. Precision health is an important part of the present and future of health care at MUSC and beyond.

“Harnessing the information in our DNA for research has the power to drive discoveries further and faster than ever before. With ever-advancing technologies, we are more equipped than ever to explore the intricacies of the human genome with unprecedented depth and precision,” she said.

“By studying the genetic variations among individuals and populations, we can uncover crucial insights into the causes and progression of diseases and ultimately inform potential treatment strategies now and for generations to come.” 

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Stop COVID Cohort: An Observational Study of 3480 Patients Admitted to the Sechenov University Hospital Network in Moscow City for Suspected Coronavirus Disease 2019 (COVID-19) Infection

Collaborators.

• Sechenov StopCOVID Research Team : Anna Berbenyuk ,  Polina Bobkova ,  Semyon Bordyugov ,  Aleksandra Borisenko ,  Ekaterina Bugaiskaya ,  Olesya Druzhkova ,  Dmitry Eliseev ,  Yasmin El-Taravi ,  Natalia Gorbova ,  Elizaveta Gribaleva ,  Rina Grigoryan ,  Shabnam Ibragimova ,  Khadizhat Kabieva ,  Alena Khrapkova ,  Natalia Kogut ,  Karina Kovygina ,  Margaret Kvaratskheliya ,  Maria Lobova ,  Anna Lunicheva ,  Anastasia Maystrenko ,  Daria Nikolaeva ,  Anna Pavlenko ,  Olga Perekosova ,  Olga Romanova ,  Olga Sokova ,  Veronika Solovieva ,  Olga Spasskaya ,  Ekaterina Spiridonova ,  Olga Sukhodolskaya ,  Shakir Suleimanov ,  Nailya Urmantaeva ,  Olga Usalka ,  Margarita Zaikina ,  Anastasia Zorina ,  Nadezhda Khitrina

Affiliations

• 1 Department of Pediatrics and Pediatric Infectious Diseases, Institute of Child's Health, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 2 Inflammation, Repair, and Development Section, National Heart and Lung Institute, Faculty of Medicine, Imperial College London, London, United Kingdom.
• 3 Soloviev Research and Clinical Center for Neuropsychiatry, Moscow, Russia.
• 4 School of Physics, Astronomy, and Mathematics, University of Hertfordshire, Hatfield, United Kingdom.
• 5 Biobank, Institute for Regenerative Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 6 Institute for Regenerative Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 7 Chemistry Department, Lomonosov Moscow State University, Moscow, Russia.
• 8 Department of Polymers and Composites, N. N. Semenov Institute of Chemical Physics, Moscow, Russia.
• 9 Department of Clinical and Experimental Medicine, Section of Pediatrics, University of Pisa, Pisa, Italy.
• 10 Institute of Social Medicine and Health Systems Research, Faculty of Medicine, Otto von Guericke University Magdeburg, Magdeburg, Germany.
• 11 Institute for Urology and Reproductive Health, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 12 Department of Intensive Care, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 13 Clinic of Pulmonology, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 14 Department of Internal Medicine No. 1, Institute of Clinical Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 15 Department of Forensic Medicine, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• 16 Department of Statistics, University of Oxford, Oxford, United Kingdom.
• 17 Medical Research Council Population Health Research Unit, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.
• 18 Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom.
• 19 Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, United Kingdom.
• 20 Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
• PMID: 33035307
• PMCID: PMC7665333
• DOI: 10.1093/cid/ciaa1535

Background: The epidemiology, clinical course, and outcomes of patients with coronavirus disease 2019 (COVID-19) in the Russian population are unknown. Information on the differences between laboratory-confirmed and clinically diagnosed COVID-19 in real-life settings is lacking.

Methods: We extracted data from the medical records of adult patients who were consecutively admitted for suspected COVID-19 infection in Moscow between 8 April and 28 May 2020.

Results: Of the 4261 patients hospitalized for suspected COVID-19, outcomes were available for 3480 patients (median age, 56 years; interquartile range, 45-66). The most common comorbidities were hypertension, obesity, chronic cardiovascular disease, and diabetes. Half of the patients (n = 1728) had a positive reverse transcriptase-polymerase chain reaction (RT-PCR), while 1748 had a negative RT-PCR but had clinical symptoms and characteristic computed tomography signs suggestive of COVID-19. No significant differences in frequency of symptoms, laboratory test results, and risk factors for in-hospital mortality were found between those exclusively clinically diagnosed or with positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) RT-PCR. In a multivariable logistic regression model the following were associated with in-hospital mortality: older age (per 1-year increase; odds ratio, 1.05; 95% confidence interval, 1.03-1.06), male sex (1.71; 1.24-2.37), chronic kidney disease (2.99; 1.89-4.64), diabetes (2.1; 1.46-2.99), chronic cardiovascular disease (1.78; 1.24-2.57), and dementia (2.73; 1.34-5.47).

Conclusions: Age, male sex, and chronic comorbidities were risk factors for in-hospital mortality. The combination of clinical features was sufficient to diagnose COVID-19 infection, indicating that laboratory testing is not critical in real-life clinical practice.

Keywords: COVID-19; Russia; SARS-CoV-2; cohort; mortality risk factors.

© The Author(s) 2020. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: [email protected].

Publication types

• Observational Study
• Research Support, Non-U.S. Gov't
• Hospitalization
• Middle Aged

Grants and funding

• 20-04-60063/Russian Foundation for Basic Research

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