Related Experiment Video
Updated: May 19, 2026
09:57
Development and Evaluation of 3D-Printed Cardiovascular Phantoms for Interventional Planning and Training
Published on: January 18, 2021
Personalized medicine in pediatric cardiology: do little changes make a big difference?
Ashok K Manickaraj1, Seema Mital
1Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.
Current Opinion in Pediatrics
|August 15, 2012
Summary
Genomic and pharmacogenomic advances offer new diagnostics and personalized treatments for children with congenital heart disease (CHD). These discoveries improve disease prediction, drug efficacy, and surgical outcomes, paving the way for tailored pediatric care.
Area of Science:
- Genomics
- Pharmacogenomics
- Pediatric Cardiology
Background:
- Genomic advancements are revolutionizing personalized medicine.
- Congenital heart disease (CHD) presents complex genetic challenges.
- Understanding genetic influences is crucial for pediatric cardiovascular care.
Purpose of the Study:
- To review recent genomic and pharmacogenomic discoveries in pediatric CHD.
- To explore applications in diagnostics, risk prediction, and treatment optimization.
- To highlight the translation of genomic knowledge into clinical practice.
Main Methods:
- Next-generation sequencing (NGS) and genotyping technologies.
- Analysis of common and rare genetic variants in CHD.
- Review of pharmacogenomic and pharmacodynamic studies in pediatric populations.
Main Results:
- NGS enables accurate, noninvasive prenatal diagnosis and transplant rejection monitoring.
- Identification of genetic variants influencing surgical response guides treatment decisions.
- Pharmacogenetic data is crucial for optimizing pediatric drug dosing, considering age-related changes.
Conclusions:
- Genomic and pharmacogenomic discoveries are driving sensitive screening and diagnostic tools for CHD.
- Development of safer, more effective drugs is informed by genetic insights.
- Translating genomic knowledge into patient care requires strategic implementation.
Related Concept Videos
01:24Dosage Regimen: Individualization
Individualization in dosing regimens is the customization of medication doses for individual patients. Its necessity arises from the goal of maximizing therapeutic benefits while minimizing risks. This approach is pivotal because human responses to drugs can vary widely; what is effective for one person may be inadequate or excessive for another. Interpatient (intersubject) variability refers to differences in drug responses between individuals, while intrapatient (intrasubject) variability...
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight, compared...
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...