Accidents & Violence, ADHD, Author Interviews, Columbia, JAMA / 04.10.2023

MedicalResearch.com Interview with: Guohua Li, MD, DrPH Finster Professor of Epidemiology and Anesthesiology Columbia University Irving Medical Center MedicalResearch.com: What is the background for this study? How was the ADHD diagnosis determined? Response: The reported prevalence of ADHD in children and young adults in the United States has more than doubled since the 1990s because of improved diagnosis.  Currently, ADHD affects about 13 percent of children under 18 years of age and eight percent of adults under 45 years of age.  Little is known about the prevalence of ADHD in older adults although it is estimated that ADHD symptoms may persist throughout the lifespan in about one-third of children diagnosed with the disorder.  Diagnostic criteria for adulthood ADHD include having five or more relevant symptoms, adverse impact on social, academic, and occupational activities,  and onset of symptoms before age 12. In this study, ADHD status is determined based on an affirmative response to the question of whether the participant had ever had ADHD or had ever been told by a doctor or other health professional that he or she had ADHD. (more…)
Author Interviews, Columbia, Gender Differences, JAMA, OBGYNE, Surgical Research / 24.08.2023

MedicalResearch.com Interview with: Jason D. Wright, MD, FACOG, FACS Sol Goldman Associate Professor Chief, Division of Gynecologic Oncology Vice Chair of Academic Affairs, Department of Obstetrics and Gynecology Columbia University College of Physicians and Surgeons New York, New York 10032 MedicalResearch.com: What is the background for this study? Response: There is growing recognition that gender-affirming surgery (GAS) is safe and that the procedures are associated with favorable long term outcomes. Prior work has explored the use of inpatient procedures and shown that the rates of GAS have risen, but there is little contemporaneous data to examine more recent inpatient and outpatient use of GAS. This is particularly important as changes in insurance regulations may have increased access for these procedures. We examined temporal trends in performance of inpatient and outpatient GAS and examined age-specific trends in the types of procedures performed over time. (more…)
Author Interviews, Columbia, Rheumatology / 06.06.2023

MedicalResearch.com Interview with: W. Benjamin Nowell PhD Director of Patient-Centered Research at Global Healthy Living Foundation Columbia University in the City of New York New York, New York MedicalResearch.com: What is the background for this study? Response: Given that lab tests are an important part of rheumatoid arthritis (RA) diagnosis and monitoring, people living with the condition want and need to understand their lab results –also known as blood work – for patient-centered shared decision making about treatment. The presentation titled, “Patient Perceptions of Rheumatoid Arthritis Blood Work and Utility of a Test Predicting Response to New Medication: A Cross-sectional Survey in the ArthritisPower,” presented at the 76th EULAR European Congress of Rheumatology (June 2, 2023 in Milan, Italy) includes results from a recent ArthritisPower survey (n=405) that asked patients to share their perceptions about RA bloodwork, reasons their doctor orders these tests, and how results are used. (more…)
Anesthesiology, Author Interviews, Columbia, JAMA, OBGYNE / 28.02.2022

MedicalResearch.com Interview with: Jean Guglielminotti MD,PhD Assistant Professor of Anesthesiology Columbia University Irving Medical Center New York 10032  MedicalResearch.com:  What is the background for this study?  Response: An old study (2004-2006) conducted in France suggested that epidural analgesia during childbirth resulted in a decreased risk of postpartum hemorrhage, the first cause of preventable maternal morbidity and mortality. We believed it was important to replicate this study in the United States, because of the advances in obstetric and anesthesia care practices during the last 15 years, and because of the marked differences in the health care systems between the United States and France. (more…)
Author Interviews, Columbia, COVID -19 Coronavirus, Pediatrics / 06.01.2022

MedicalResearch.com Interview with: Dani Dumitriu, MD, PhD Assistant Professor of Pediatrics (in Psychiatry) The Sackler Institute for Developmental Psychobiology Columbia University, New York MedicalResearch.com: What is the background for this study? What are the main findings?  Response: A lot of research has focused on the effects of COVID-19 in various vulnerable populations, such as elderly individuals, immunocompromised patients, and individuals with severe comorbidities. However, one vulnerable population that has remained relatively understudied are the infants exposed to maternal COVID-19 disease during pregnancy. While early on in the pandemic we and other groups showed reassuring data on low risk of vertical transmission, meaning the passing of the virus from mother-to-infant is rare, this does not necessarily mean that these infants wouldn't experience long-term consequences related to the maternal infection through other means. We know from other viral illness that maternal illness, most commonly through the activation of her immune system, can lead to a cascade of events that affect fetal development. This is why a large number of physicians and researchers at Columbia University spearheaded the COVID-19 Mother Baby Outcomes (COMBO) Initiative -- to look at potential long-term health effects on both infants and mothers. (more…)
Author Interviews, Columbia, Genetic Research, Hematology, NEJM / 16.12.2021

MedicalResearch.com Interview with: Markus Y Mapara, MD Professor of Medicine Director of the Blood and Marrow Transplantation Columbia University Medical Center MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Sickle cell disease is caused by a point mutation in the beta-globin gene of hemoglobin  resulting in the production of abnormal hemoglobin which leads to formation of sickle-shaped RBC under conditions of low oxygen. Sickle cell disease affects about 100,000 patients in the US which are predominantly African  American. The only curative approach is to perform an allogeneic bone marrow transplant which is however fraught with significant treatment-related risks if a matched sibling donor is not available. The current study describes the successful application of a novel gene therapy  to treat patients with sickle cell disease. The strategy is based on a gene-addition approach to introduce the genetic information for a Hemoglobin F-like molecule termed HgAT87Q into hematopoietic stem cells. The expression of this novel  hemoglobin prevents polymerization of HgbS  and has now been demonstrated to prevent the occurrence of vaso-occlusive pain crises in sickle cell disease patients. (more…)
Author Interviews, Columbia, Emergency Care, JAMA, Pediatrics, Race/Ethnic Diversity, Yale / 17.09.2021

MedicalResearch.com Interview with: Destiny Tolliver, MD National Clinician Scholars Program Yale University School of Medicine New Haven, CT 06510-8088 Katherine Nash MD, MHS Assistant Professor of Pediatrics Columbia University Irving Medical Center MedicalResearch.com: What is the background for this study? Response: This study was motivated by work from our colleagues in the adult Emergency Medicine world. Earlier this year Dr. Ambrose Wong and colleagues published work describing racial disparities in the physical restraint of adults in the ED. This prompted our group to consider whether these disparities were also present for children. (more…)
Author Interviews, Columbia, JAMA, Race/Ethnic Diversity, Telemedicine / 29.07.2021

MedicalResearch.com Interview with: Steffie Woolhandler MD MPH, FACP Professor of Public health and Health Policy CUNY School of Public Health at Hunter College Co-founder and board member Physicians for a National Health Program MedicalResearch.com: What is the background for this study? What are the main findings? Response:   We analzyed a national database of healthcare utilization. We found racial disparities exist in use of specialist MD services by Black- and Native-Americans relative to White-Americans, despite their greater needs.  Hispanic- and Asian-Americans also receive specialist care at low rates.   (more…)
AHA Journals, Author Interviews, Blood Pressure - Hypertension, Columbia / 27.07.2021

MedicalResearch.com Interview with: George Hripcsak, MD, MS. Chair and Vivian Beaumont Allen Professor of Biomedical Informatics Department of Biomedical Informatics, Columbia University Irving Medical Center New York, NY MedicalResearch.com: What is the background for this study? Response: ACE inhibitors and ARBs are anti-hypertension drugs that have related yet distinct mechanisms of action, and they are both recommended as first-line therapies for treating hypertension. There have been no large head-to-head comparisons of ACE inhibitors and ARBs, although there are several studies with limited size and often restricted (e.g., high-risk) populations. While there are some conflicting results in the literature, the current evidence seems to indicate that they are similar in effectiveness but that ACE inhibitors have more side effects (e.g., cough and angioedema). (more…)
Author Interviews, Columbia, COVID -19 Coronavirus, Depression, Mental Health Research, PTSD / 07.05.2021

MedicalResearch.com Interview with: João Mauricio Castaldelli-Maia, MD, PhD (he/him) NIDA INVEST Drug Abuse Research Fellow Policy and Health Initiatives on Opioids and Other Substances (PHIOS) Department of Epidemiology Mailman School of Public Health Columbia University New York, NY 10032 MedicalResearch.com: What is the background for this study? Response:     It remains unclear whether COVID-19 is associated with psychiatric symptoms during or after the acute illness phase. Being affected by the disease exposes the individual to an uncertain prognosis and a state of quarantine. These factors can predispose individuals to the development of mental symptoms during or after the acute phase of the disease. There is a need for prospective studies assessing psychiatric symptoms in COVID-19 patients in the post-infection period. (more…)
Author Interviews, Columbia, COVID -19 Coronavirus, Exercise - Fitness, Heart Disease, JAMA / 05.03.2021

MedicalResearch.com Interview with: David J. Engel, MD, FACC Division of Cardiology Columbia University Irving Medical Center New York, New York MedicalResearch.com: What is the background for this study? Response: ​​Early reports and observations in the COVID-19 pandemic found that patients recovering from mild to severe forms of COVID-19 illness had a higher prevalence of cardiac injury in comparison with what historically has been seen and reported with other viruses. This cardiac injury, categorized as inflammatory heart disease, could have serious implications, including a risk for exercise-triggered sudden cardiac death, for athletes and highly active people who have had prior COVID-19 illness and who return to intensive exercise activity with unknowing subclinical cardiac injury. To address these concerns in COVID positive athletes, the ACC generated return to play cardiac screening recommendations (troponin blood test, ECG, resting echocardiogram) for all competitive athletes after COVID-19 infection prior to resumption of competitive and intensive sport activity. The professional leagues were among the first organizations to return to full-scale sport activity in the setting of the pandemic, and they uniformly adopted and implemented the ACC return to play screening recommendations for all athletes that tested positive for COVID-19. The leagues recognized that there was value in collaborating and formally analyzing their pooled cardiac data, not only for league athlete health and safety purposes, but also to share broadly this information to add to the growing body of knowledge about the virus. (more…)
Addiction, Author Interviews, Columbia, JAMA / 05.02.2021

MedicalResearch.com Interview with: Elodie C. Warren, MPH Columbia University Mailman School of Public Health Graduate MedicalResearch.com: What is the background for this study? What are the main findings? Response: We know that the US has been experiencing an opioid crisis for the past two decades. And we know that among communities of color, rates of overdose deaths are continuing to increase, even though overall national rates decreased between 2017 and 2018. To better understand how the opioid crisis has differently affected racial/ethnic groups, we looked at how heroin treatment admissions changed over time by race/ethnicity, age, and sex. We found that there were stark differences when comparing non-Hispanic Black men and women to non-Hispanic White men and women. Importantly, our study suggests the existence of an aging cohort of Black men and women (likely including survivors of a heroin epidemic that hit urban areas more than 40 years ago) that continues to struggle with heroin addiction. This points to the need for targeted interventions in chronically underserved communities.  (more…)
Author Interviews, Columbia, JAMA, OBGYNE, Weight Research / 05.11.2020

MedicalResearch.com Interview with: Marisa N. Spann, PhD, MPH Columbia University Irving Medical Center New York, New York MedicalResearch.com: What is the background for this study? Response: Prior research has demonstrated that higher maternal pre-pregnancy body mass index is associated with adverse long-term outcomes for offspring including obesity, poorer cognitive and social abilities, and increased risk of psychiatric disorders.  MedicalResearch.com: What are the main findings? Response: In this study, we investigated the association of maternal pre-pregnancy body mass index with fetal growth and neonatal functional connectivity and found that maternal pre-pregnancy BMI has a significant positive correlation with fetal weight and with greater thalamic connectivity of the brain.  (more…)
Author Interviews, Columbia, COVID -19 Coronavirus, Kidney Disease, Transplantation / 09.07.2020

MedicalResearch.com Interview with: Syed Ali Husain, MD, MPH Assistant Professor of Medicine Division of Nephrology, Department of Medicine Columbia University College of Physicians and Surgeons and New York Presbyterian Hospital The Columbia University Renal Epidemiology Group New York, New York  MedicalResearch.com: What is the background for this study? Response: One group of patients thought to be at a high risk of severe COVID-19 manifestations is kidney transplant recipients, since they take medications that suppress their immune system and they often have other medical problems that have been associated with severe infection. We wanted to understand whether it is safe to manage kidney transplant recipients who develop COVID-19 as outpatients, without admitting them to the hospital. (more…)
Author Interviews, Columbia, COVID -19 Coronavirus, NYU, Technology / 02.04.2020

MedicalResearch.com Interview with: Professor Anasse Bari PhD Courant Institute of Mathematical Sciences, Computer Science Department, New York University, New York, and Megan Coffee MD PhD Division of Infectious Diseases and Immunology, Department of Medicine New York University, Department of Population and Family Health Mailman School of Public Health Columbia University, New York MedicalResearch.com: What is the background for this study? Coffee and Bari:  This work is led by NYU Grossman School of Medicine and NYU’s Courant Institute of Mathematical Sciences, in partnership with Wenzhou Central Hospital and Cangnan People's Hospital, both in Wenzhou, China. This is a multi-disciplinary team with backgrounds in clinical infectious disease as well as artificial intelligence (AI) and computer science. There is a critical need to better understand COVID-19. Doctors learn from collective and individual clinical experiences. Here, no clinician has years of experience. All are learning as they go, having to make important decisions about clinical management with stretched resources. The goal here is to augment clinical learning with machine learning. In particular, the goal is to allow clinicians to identify early who from the many infected will need close medical attention. Most patients will first develop mild symptoms, yet some 5-8 days later will develop critical illness. It is hard to know who these people are who will need to be admitted and may need to be intubated until they become ill. Knowing this earlier would allow more attention and resources to be spent on those patients with worse prognoses. If there were ever treatments in the future that could be used early in the course of illness, it would be important to identify who would most benefit We present in this study a first step in building an artificial intelligence (AI) framework, with predictive analytics (PA) capabilities applied to real patient data, to provide rapid clinical decision-making support. It is at this point a proof of concept that it could be possible to identify future severity based on initial presentation in COVID-19. (more…)
Author Interviews, Columbia, Heart Disease, Mediterranean Diet, Women's Heart Health / 13.03.2020

MedicalResearch.com Interview with: Dr. Riddhi Shah, PhD AHA SFRN Postdoctoral Research Fellow Division of Cardiology Columbia University Medical Center New York, New York MedicalResearch.com: What is the background for this study? Response: The Mediterranean Diet, characterized by higher intakes of plant foods including plant proteins, monounsaturated fat, fish, and lower consumption of animal products and saturated fat, has long been associated with reduced cardiovascular risk and greater longevity, but the molecular mechanisms underlying these associations have not been fully elucidated. We evaluated associations of an Alternate Mediterranean Diet Score, reflective of adherence to this diet pattern and adapted for US populations, and its components with markers of endothelial inflammation directly measured in endothelial cells harvested from women, including oxidative stress, nuclear factor kappa B (NFκB), and endothelial nitric oxide synthase (eNOS) gene expression. (more…)
Author Interviews, Cancer Research, Columbia, OBGYNE / 11.03.2020

MedicalResearch.com Interview with: Matthew E. Spotnitz, MD, MPH Departments of Biomedical Informatics and Obstetrics and Gynecology Columbia University Medical Center Observational Health Data Sciences and Informatics, and Medical Informatics Services New York-Presbyterian Hospital, New York, New York MedicalResearch.com: What is the background for this study? Response: Our take home message is that copper and hormonal IUDs may have different physiological effects on the female genitourinary system. (more…)
Author Interviews, Blood Pressure - Hypertension, Columbia, Heart Disease, JAMA / 17.02.2020

MedicalResearch.com Interview with: George Hripcsak, MD, MS Vivian Beaumont Allen Professor of Biomedical Informatics Chair, Department of Biomedical Informatics Columbia University Director, Medical Informatics Services NewYork-Presbyterian Hospital/Columbia MedicalResearch.com: What is the background for this study? Response: Diuretics are considered among the best drugs to treat hypertension, but there are no randomized studies to tell us which diuretic is best. Hydrochlorothiazide is the most frequently used diuretic for hypertension, but another drug, chlorthalidone, is gaining favor, with the most recent US hypertension guideline expressing a preference for it. Chlorthalidone is known to be longer acting and therefore perhaps more effective. Other (non-randomized) studies have been inconsistent, and some of them imply that chlorthalidone may be more effective. But other studies have shown that chlorthalidone may have more side effects. (more…)
Author Interviews, Cannabis, Columbia, Heart Disease, JACC / 21.01.2020

MedicalResearch.com Interview with: Ersilia DeFilippis, MD Second-year cardiology fellow Columbia University Irving Medical Center and NewYork-Presbyterian MedicalResearch.com: What is the background for this study? Response: Marijuana use has been increasing significantly and is the most commonly illicit drug used in the United States. In recent years, more states have been legalizing its use for both recreational and medicinal purposes. We have all seen news reports regarding the rise of vaping-related health hazards. Yet, data are limited regarding the cardiovascular effects of marijuana which is what drove us to explore this topic. (more…)
Author Interviews, Columbia, Infections / 30.10.2019

MedicalResearch.com Interview with: Barun Mathema PhD Assistant Professor,Epidemiology Mailman School of Public Health Columbia University MedicalResearch.com: What is the background for this study? Response: In 2005 a major outbreak of extensively drug-resistant tuberculosis (XDR-TB) causing over 90% mortality was reported in rural town of Tugela Ferry, KwaZulu-Natal, South Africa. The strain that caused the outbreak was resistant to all first and most second line antibiotics. This strain has since been recovered throughout the district and accounts for over 79% of all XDR-TB. We were interested in understanding the basic epidemiological and evolutionary forces that enabled this strain to proliferate. More simply, when and where this strain emerged, and how and why it became dominant.  (more…)
Author Interviews, Cannabis, Columbia, Gender Differences / 06.09.2019

MedicalResearch.com Interview with: Morgan Philbin, PhD MHS Assistant Professor Department of Sociomedical Sciences Columbia University School of Public Health MedicalResearch.com: What is the background for this study? Response: Marijuana is the most frequently used substance in the United States (US) after alcohol and tobacco. In 2017, 15.3% of the US population ages 18 and up reported past-year marijuana use (MU) and 9.9% past month use. Individuals who identify as lesbian, gay, or bisexual (LGB), also report higher levels of marijuana use and marijuana use disorder than their heterosexual counterparts. Researchers have begun to explore potentially modifiable factors, such as state-level marijuana policies, that affect marijuana use and related outcomes at the population-level and within subgroups—though as of yet not among sexual minority populations. We therefore examined whether LGB individuals living in states with medical marijuana laws (MMLs) have higher levels of marijuana use and marijuana use disorder compared to LGB individuals in states without MMLs. (more…)
Addiction, Author Interviews, Cannabis, Columbia, JAMA, Opiods / 18.07.2019

MedicalResearch.com Interview with: Silvia S. Martins, MD, PHD Associate Professor of Epidemiology Department of Epidemiology Mailman School Of Public Health Columbia University  MedicalResearch.com: What is the background for this study? Response: Prior studies have suggested t6hat medical marijuana legalization might play a role in decreasing opioid use. We aimed to test this hypothesis using individual level data on nonmedical use of prescription opioids and opioid use disorder  from the US National Survey on Drug Use and Health.  (more…)
Author Interviews, Columbia, JAMA, Pulmonary Disease / 28.06.2019

MedicalResearch.com Interview with: Elizabeth C. Oelsner, MD, MPH Irving Assistant Professor of Medicine Division of General Medicine New York Presbyterian Columbia University MedicalResearch.com: What is the background for this study? Response: Uncertainty regarding how to diagnose chronic obstructive pulmonary disease (COPD) has posed significant problems for early detection and treatment of this common disease. Simplifying and standardizing the diagnosis of COPD has the potential to improve diagnosis, clinical care, and clinical research for this common and under-diagnosed chronic lung disease. We therefore aimed to provide robust evidence for the best threshold to diagnose COPD by comparing how well various thresholds predict hospitalizations and deaths from COPD. (more…)
Author Interviews, Brain Injury, Columbia, Critical Care - Intensive Care - ICUs, NEJM, Neurology / 27.06.2019

MedicalResearch.com Interview with: Jan Claassen, MD, PhD, FNCS Associate Professor of Neurology Division of Division of Critical Care and Hospitalist Neurology Columbia University Medical Center MedicalResearch.com: What is the background for this study? What are the main findings? Response: Unconsciousness is common and predicting recovery is challenging – often inaccurate. Many patients do not show movements on commands and typically this is interpreted as unconsciousness. Some of these patients may be able to have brain response to these commands raising the possibility of some preservation of consciousness. This has previously been shown months or years after the injury mostly using MRI. We were able to detect this activation at the bedside in the ICU shortly after brain injury. For this we applied machine learning to the EEG to distinguish the brain’s responses to commands. Patients that showed this activation were more likely to follow commands prior to discharge and had better outcomes one year later.  (more…)
Author Interviews, Columbia, Nutrition, OBGYNE, Pediatrics / 12.03.2019

MedicalResearch.com Interview with: Cynthia Gyamfi-Bannerman, MD, MSc Ellen Jacobson Levine and Eugene Jacobson Professor of Women's Health in Obstetrics and Gynecology Director, Maternal-Fetal Medicine Fellowship Program Co-Director, CUMC Preterm Birth Prevention Center Columbia University MedicalResearch.com: What is the background for this study? What are the main findings? Response: In 2016 our group published the findings of the Antenatal Late Preterm Steroids (ALPS) trial in the NEJM.  We found that administration of antenatal corticosteroids to women at high risk for delivery from 34-36 weeks decreased breathing problems in their neonates.  This treatment had been traditionally only given at less than 34 weeks. The current paper is a cost analysis of that trial.  We found that the treatment was also cost effective.  From a cost perspective treatment was both low cost and highly effective (the options are low cost, low effect/low cost/high effect, high cost/low effect, high cost/high effect).  (more…)
Author Interviews, Columbia, Nutrition / 04.03.2019

MedicalResearch.com Interview with: Sonia Y. Angell, MD MPH Division of General Medicine Department of Medicine, Columbia University Irving Medical Center New York, NY   MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Trans fatty acid in the diet increases the incidence of coronary heart disease in the population. In 2006, a policy restricting restaurant use of trans fat went into effect in NYC. This study measured the change in trans fatty acid serum concentration among a representative sample of the NYC population between 2004 and 2013-2014, and whether the change varied by frequency of restaurant food dining. Overall, blood trans fatty acid serum concentration went down by 57%. Among people who dined out less than one time a week, it went down 51% and in those who dined out 4 or more times a week, it went down 61.6%.  In fact, in 2013-2014 there was no longer a significant increase in the serum trans fatty acid concentrations among those who ate restaurant foods frequently compared with those who ate out rarely.  (more…)
Author Interviews, Columbia, Depression, JAMA, OBGYNE, USPSTF / 21.02.2019

MedicalResearch.com Interview with: Dr. Karina Davidson, PhD Professor of Behavioral Medicine (in Medicine and Psychiatry) Executive Director, Center for Behavioral Cardiovascular Health Columbia University Medical Center MedicalResearch.com: What is the background for this study? What are the main findings? Response: Perinatal depression, which includes depression that develops during pregnancy or after childbirth, is one of the most common complications of pregnancy and the postpartum period, affecting as many as 1 in 7 pregnant women. The Task Force found that counseling can help those who are at increased risk of developing perinatal depression, and clinicians should provide or refer pregnant and postpartum individuals who are at increased risk to counseling. Clinicians can determine who might be at increased risk of perinatal depression by looking at someone’s history of depression, current depressive symptoms, socioeconomic risk factors, recent intimate partner violence, and other mental-health related factors. (more…)
Author Interviews, Columbia, Depression, Hearing Loss, JAMA / 08.01.2019

MedicalResearch.com Interview with: Justin S. Golub, MD, MS Assistant Professor Otology, Neurotology, and Skull Base Surgery Department of Otolaryngology-Head and Neck Surgery Columbia University Vagelos College of Physicians and Surgeons NewYork-Presbyterian/Columbia University Irving Medical Center MedicalResearch.com: What is the background for this study? What are the main findings? Response: Age-related hearing loss is extremely common, yet few people do anything about it. We studied a population of over 5,000 individuals and found that hearing loss was related to feelings of depression. The worse the hearing loss, the worse the symptoms of depression. Even people with just mild hearing loss had nearly two times the odds of depressive symptoms compared to normal hearing people. Among people with moderate hearing loss, the odds of depressive symptoms were four times as high. These statistics take into account various factors that can cause both hearing loss and depression, such as age and demographic background.  (more…)
Author Interviews, Columbia, Genetic Research, Kidney Disease / 03.01.2019

MedicalResearch.com Interview with: Emily E. Groopman, B.A Departments of Medicine Hammer Health Sciences, and the Department of Epidemiology Columbia University, New York MedicalResearch.com: What is the background for this study? Response: Exome sequencing (ES), targeted capture of the protein-coding segments of the human genome, is quickly becoming a first-line diagnostic tool in clinical medicine, particularly for pediatric disorders and cancer. However, the utility of ES has not been investigated for the majority of constitutional disorders in adults, including for chronic kidney disease (CKD), which collectively affects more than 1 in 10 individuals worldwide. Thus, we performed ES in 3,315 patients with CKD drawn from two independent cohorts, and evaluated the diagnostic yield and the clinical implications of genetic findings. The cohort was predominantly adult (91.6% of patients aged >21 years), ethnically diverse, and encompassed the major CKD subtypes, broadly reflective of the demographic and clinical features of United States CKD patient population. (more…)
Annals Internal Medicine, Author Interviews, Columbia, Genetic Research, Kidney Disease / 27.11.2018

MedicalResearch.com Interview with: Hila Milo Rasouly, PhD Postdoctoral research scientist Ali Gharavi Lab Columbia University MedicalResearch.com: What is the background for this study? Response: Genome sequencing is increasingly used in clinical medicine to help make a clinical diagnosis and make predictions about potential future complications. The diagnostic yield and limitations for different indications are still being worked out.  We are interested in studying the applications of genome sequencing for chronic kidney diseases. It is estimated that 10% of adults have chronic kidney disease (CKD), and amongst them, 10% are caused by single-gene (Mendelian) forms of disease. The American College of Medical Genetics and Genomics developed guidelines on how to interpret genetic variants in order to make a genetic diagnosis. Our lab has been engaged in studying the yield and impact of genetic testing for  CKD, and in the course of our research, we realized that a very large number of individuals have genetic variants that may be classified as pathogenic based on automated application of the guidelines. However, in majority of these cases, the genetic variant was much too frequent in the population to be plausibly disease-causing or did not match up well with the clinical diagnosis. This led us to wonder about the risk of false-positive genetic diagnosis. To analyze this risk for false-positive genetic diagnosis, we analyzed the genome sequence of 7,974 self-reported healthy adults. (more…)