27 Nov Genome Analysis Can Overestimate Incidence of Chronic Kidney Disease
Posted at 16:36h
in Annals Internal Medicine, Author Interviews, Columbia, Genetic Research, Kidney Disease
MedicalResearch.com Interview with:
[caption id="attachment_46221" align="alignleft" width="174"]
Dr. Milo Rasouly[/caption]
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.
Jennifer Woo Baidal, MD, MPH
Assistant Professor of Pediatrics
Director of Pediatric Weight Management,
Division of Pediatric Gastroenterology, Hepatology, and Nutrition,
Columbia University Medical Center &
New York-Presbyterian Morgan Stanley Children’s Hospital
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Childhood obesity prevalence is historically high, with most incident obesity among children occurring before age 5 years. Racial/ethnic and socioeconomic disparities in childhood obesity are already apparent by the first years of life. Latino/Hispanic children in low-income families are at-risk for obesity. Thus, understanding potentially effective ways to prevent childhood obesity, particularly in vulnerable populations, should focus on early life.
Sugar-sweetened beverage (SSB) consumption is a modifiable risk factor for obesity and is linked to other adverse health outcomes. Maternal SSB consumption in pregnancy and infant sugar-sweetened beverage consumption in the first year of life are linked to later childhood obesity.
We sought to describe beverage consumption in a modern cross-sectional cohort of 394 low-income, Latino families, and to examine the relationship of parental attitudes toward sugar-sweetened beverages with parental and infant SSB consumption.



















