4.6 Article

Pharmacogenetic profiling via genome sequencing in children with medical complexity

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Pathology

Automated Pharmacogenomic Reports for Clinical Genome Sequencing

Barbara J. Klanderman et al.

Summary: Clinical laboratories offering genome sequencing can provide pharmacogenomic findings to patients, which can help inform medication selection and dosing throughout the lifespan. The lmPGX pipeline offers a solution for seamlessly integrating pharmacogenomic results with genome reporting, addressing various challenges in reporting.

JOURNAL OF MOLECULAR DIAGNOSTICS (2022)

Article Clinical Neurology

Research priorities for children with neurological impairment and medical complexity in high-income countries

Catherine Diskin et al.

Summary: This study aimed to identify the highest-priority clinical research areas related to children with neurological impairment and medical complexity. A diverse international expert panel contributed to the study, identifying key clinical topics and research questions. The top clinical topics prioritized for research included irritability and pain, child mental health, polypharmacy, and more.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2022)

Article Genetics & Heredity

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Eric Venner et al.

Summary: The All of Us Research Program (AoURP) is an initiative sponsored by the National Institutes of Health (NIH) to enroll over one million people in the USA, creating a research resource for future studies. The program also aims to generate genomic data and provide important health-related information to participants.

GENOME MEDICINE (2022)

Review Pharmacology & Pharmacy

The Impact of Pharmacogenetics on Pharmacokinetics and Pharmacodynamics in Neonates and Infants: A Systematic Review

Nadir Yalcin et al.

Summary: In neonates, pharmacogenetics poses additional complexity due to genetic variability and rapid maturational changes in proteins relevant to clinical pharmacology. Current studies in this field mainly focus on exploring and extrapolating observations from older populations. There is a need to go beyond confirmation of associations and investigate the impact of pharmacogenetics specifically in neonatal life.

PHARMACOGENOMICS & PERSONALIZED MEDICINE (2022)

Article Pharmacology & Pharmacy

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline forCYP2C19and Proton Pump Inhibitor Dosing

John J. Lima et al.

Summary: Using CYP2C19 genotype data to guide PPI therapy can help identify patients who may need higher doses for efficacy and those who may benefit from lower doses to reduce the risk of toxicity associated with long-term use at higher plasma concentrations.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2021)

Editorial Material Medicine, General & Internal

Genome sequencing as a diagnostic test

Gregory Costain et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2021)

Article Pediatrics

Timing of Co-occurring Chronic Conditions in Children With Neurologic Impairment

Joanna Thomson et al.

Summary: The study revealed that children with NI enrolled in Medicaid have a high prevalence of multimorbidity, which develops early in life and mainly affects the respiratory and digestive organ systems.

PEDIATRICS (2021)

Review Genetics & Heredity

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

Gregory McInnes et al.

Summary: Genome sequencing enables precision medicine by tailoring treatment to individual genetic variations. Understanding the function and clinical impacts of rare genetic variants is crucial, particularly in genes of known importance. A genomic learning healthcare system is proposed to continuously collect and assess rare variants, with a focus on early-onset treatable diseases in newborns and actionable pharmacogenomics, utilizing emerging machine learning methods for prediction and considering ethical implications.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

Article Pharmacology & Pharmacy

An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine

Michelle Whirl-Carrillo et al.

Summary: Clinical annotations in PharmGKB summarize the association between variant-drug pairs and are assigned a level of evidence. To ensure consistency and transparency, a scoring system has been developed to automate LOE assignment. This system improves the quality and reliability of clinical annotations.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2021)

Article Genetics & Heredity

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam et al.

Summary: The research supports the positive effects of ES/GS on clinical management of patients with CA/DD/ID and on family and reproductive outcomes; compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective.

GENETICS IN MEDICINE (2021)

Review Genetics & Heredity

The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review

Erika L. Meaddough et al.

Summary: Pharmacogenetic testing shows potential in improving health outcomes for patients with polypharmacy, but further randomized controlled trials are needed to confirm its benefits due to variations in methodological quality, risk of bias, and outcome measures.

PHARMACOGENOMICS JOURNAL (2021)

Article Medicine, General & Internal

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting

Iris Cohn et al.

Summary: This study assessed the implementation outcomes of a PGx testing program in a pediatric setting, indicating that a majority of children required nonstandard treatment regimens for potential drug therapies based on their pharmacogenetic profiles.

JAMA NETWORK OPEN (2021)

Article Medicine, General & Internal

Complexity of Medication Regimens for Children With Neurological Impairment

James A. Feinstein et al.

Summary: This study aimed to evaluate the complexity of medication regimens for children with severe neurological impairment and found that higher complexity was associated with subsequent acute visits. Clinical interventions targeting various aspects of medication regimens, such as simplifying dosing schedules, could be beneficial.

JAMA NETWORK OPEN (2021)

Article Medicine, General & Internal

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

Gregory Costain et al.

JAMA NETWORK OPEN (2020)

Review Genetics & Heredity

Clinical utility of genomic sequencing: a measurement toolkit

Robin Z. Hayeems et al.

NPJ GENOMIC MEDICINE (2020)

Article Medicine, General & Internal

Parent-Reported Symptoms and Medications Used Among Children With Severe Neurological Impairment

James A. Feinstein et al.

JAMA NETWORK OPEN (2020)

Article Medicine, General & Internal

Prescribing Prevalence of Medications With Potential Genotype-Guided Dosing in Pediatric Patients

Laura B. Ramsey et al.

JAMA NETWORK OPEN (2020)

Review Genetics & Heredity

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

David Bick et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Pharmacology & Pharmacy

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences

Seung-been Lee et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2019)

Article Medicine, General & Internal

Pharmacogenomics

Dan M. Roden et al.

LANCET (2019)

Editorial Material Pediatrics

Choosing medications wisely: Is it time to address paediatric polypharmacy?

Orly Bogler et al.

PAEDIATRICS & CHILD HEALTH (2019)

Article Medicine, General & Internal

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Miriam S. Reuter et al.

CANADIAN MEDICAL ASSOCIATION JOURNAL (2018)

Editorial Material Pharmacology & Pharmacy

Pharmacogenomics and implementation of precision therapeutics in the neonatal ICU: a new frontier?

Tamorah Lewis et al.

PHARMACOGENOMICS (2018)

Article Pharmacology & Pharmacy

Professional opportunity for pharmacists to integrate pharmacogenomics in medication therapy

Iris Cohn et al.

CANADIAN PHARMACISTS JOURNAL (2018)

Review Psychology, Developmental

Children with medical complexity: a scoping review of interventions to support caregiver stress

H. Edelstein et al.

CHILD CARE HEALTH AND DEVELOPMENT (2017)

Article Genetics & Heredity

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

Iris Cohn et al.

NPJ GENOMIC MEDICINE (2017)

Article Pediatrics

Genetic Testing among Children in a Complex Care Program

Krista Oei et al.

CHILDREN-BASEL (2017)

Review Pediatrics

Children with medical complexity in Canada

Tammie Dewan et al.

PAEDIATRICS & CHILD HEALTH (2013)

Article Pediatrics

A National Profile of Caregiver Challenges Among More Medically Complex Children With Special Health Care Needs

Dennis Z. Kuo et al.

ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2011)

Article Pharmacology & Pharmacy

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network

M. V. Relling et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2011)