Research Ideas and Outcomes : Commentary
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Corresponding author: Jennifer Wessel (wesselj@iu.edu)
Received: 29 Aug 2017 | Published: 04 Sep 2017
© 2017 Jennifer Wessel, David Marrero
This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Citation: Wessel J, Marrero D (2017) Genetic Testing for Type 2 Diabetes in High-Risk Children: the Case for Primordial Prevention. Research Ideas and Outcomes 3: e20695. https://doi.org/10.3897/rio.3.e20695
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Extensive research now demonstrates that lifestyle modification can significantly lower risk of developing type 2 diabetes (T2D) in high-risk adults. In children, the evidence for lifestyle modification is not as robust, but the rapidly rising rate of obesity in children coupled with the substantial difficulty in changing behaviors later in life illuminates the need to implement prevention efforts early in the life course of children. Genetic data can now be used early in the life course to identify children at high-risk of developing T2D before traditional clinical measures can detect the presence of prediabetes; a metabolic condition associated with obesity that significantly increases risk for developing T2D. Such early detection of risk may enable the promotion of “primordial prevention” in which parents implement behavior change for their at risk children. Young children with genetic risk are a novel target population. Here we review the literature on genetic testing for prevention as it relates to chronic diseases and specifically use T2D as a model. We discuss the history of primordial prevention, the need for primordial prevention of T2D and the role genetic testing has in primordial prevention of high-risk families.
type 2 diabetes; genetic testing; primordial prevention; children; whole genome sequencing
T2D has become one of the most significant public health crises of our times. Currently 10% of the U.S. general population has T2D and another 37% are estimated to have prediabetes (a metabolic abnormality that greatly increases risk for developing T2D) (
T2D is a slow progressing disease that occurs in genetically predisposed individuals preceded by behaviors (diet and physical activity) established early in life; where ~40% of the variation in T2D can be explained by genetic factors (
In 1978 Toma Strasser, a cardiovascular epidemiologist at the World Health Organization, first proposed the term “primordial prevention” in an opinion piece about the future of cardiology (
Several studies have successfully demonstrated behavioral interventions that focused on modest weight loss and increased physical activity can significantly reduce risk for developing diabetes in adults with prediabetes (
Of note, lifestyle modification interventions in children have mixed results on weight loss and no substantial outcomes on diabetes prevention have been evidenced (
The ability to distinguish individuals into those who develop T2D and those who do not is based on an individual’s risk factors, such as age, gender, BMI, glucose, lipids, and blood pressure (
Major advances in genetic technology have decreased costs of genotyping and whole genome sequencing (WGS) exponentially (
Few studies have been conducted on the clinical utility of genetic risk disclosure to improve patient outcomes. Those conducted report mixed results and are limited to a few diseases and only adults (
The American College of Medical Genetics and the American Academy of Pediatrics revised their policy statement on genetic testing and screening in children (
One population that would be particularly suited for investigating the impact of genetic testing is families with a maternal history of gestational diabetes mellitus (GDM). In many respects the children of women with GDM may inherit a substantial genetic risk for T2D. The prevalence of GDM has been rising, alongside the increases in adult BMI, and currently affects ~14% of pregnancies (
Genetic testing can illustrate for parents the relative contribution of their child’s behaviors, particularly those associated with excessive weight gain. It is known that approximately 40% of the risk for developing T2D is attributable to genetics which allows focus on the 60% that can be attributed to the environment and the role environment plays in developing the condition. This offers the opportunity to promote the prevention of obesity through healthy diet and increased physical activity in young children. Parents learning of their child’s elevated genetic risk can serve as an activator to begin making healthy choices about their children’s diet, physical activity and weight. For example, parents with a personal history of type 1 diabetes (T1D) have been reported to change their young child’s environment (e.g. diet, physical activity) to reduce their child’s risk of developing T1D even when the risk factors are not established (
To date no study has examined using children’s genetic risk to motivate parents to make changes before the child’s lifestyle risk factors have developed. Research is required to reveal how genetic risk information can be used to benefit families by engaging them in actual changes in their diets, physical activity and weight and to maintain a healthy lifestyle.
This work was supported in part by the American Heart Association (15SDG22210003).
David G Marrero’s current affiliation is the Department of Health Promotion Sciences, Mel and Enid Zuckerman, University of Arizona, Tucson AZ, USA.
Jennifer Wessel: Dr. Wessel conceptualized the idea, drafted the initial manuscript, and approved the final manuscript as submitted.
David Marrero: Dr. Marrero refined the idea initially conceived by Dr. Wessel, reviewed and revised the initial manuscript, and approved the final manuscript as submitted.
The author reports no conflicts of interest in this work.