Early Lessons from the Implementation of Genomic Medicine Programs.

@article{Williams2019EarlyLF,
  title={Early Lessons from the Implementation of Genomic Medicine Programs.},
  author={Marc S. Williams},
  journal={Annual review of genomics and human genetics},
  year={2019}
}
  • Marc S. Williams
  • Published 30 August 2019
  • Medicine
  • Annual review of genomics and human genetics
Massively parallel sequencing is emerging from research settings into clinical practice, helping the vision of precision medicine to become a reality. The most successful applications are using the tools of implementation science within the framework of the learning health-care system. This article examines the application of massively parallel sequencing to four clinical scenarios: pharmacogenomics, diagnostic testing, somatic testing for molecular tumor characterization, and population… 
View on PubMed
doi.org
30 Citations
Highly Influential Citations
3
Background Citations
15
Methods Citations
1

30 Citations

Clinical utility of genomic sequencing: a measurement toolkit

This work aligns with a broad definition of clinical utility and proposes a conceptually-grounded and empirically-guided measurement toolkit focused on four domains of utility: diagnostic thinking efficacy, therapeutic efficacy, patient outcome efficacy, and societal efficacy.

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel

An innovative pilot program for genomic population health screening for any-health-status adults within the largest health system in Vermont, United States is implemented, testing the feasibility of routine, ethical, and scalable use of population genomic screening in healthcare despite generally imperfect genomic competency among the public and health care providers.

Neptune: An environment for the delivery of genomic medicine

Neptune, a system for managing the interaction between a clinical laboratory and an electronic health record system, was developed and applied to two clinical sequencing projects that required report customization, variant reanalysis and EHR integration.

Educational and Ethical Considerations for Genetic Test Implementation Within Health Care Systems

Health care delivery institutions and systems are beginning to implement genetic tests that are driving PM, particularly in the areas of oncology, pharmacogenetics, obstetrics, and prenatal diagnostics, and a number of high-quality evidenced-based educational resources and CDS tools available.

How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens

The need for integrating genetic testing into routine oncology is illustrated, and that adaptation of interventions and processes is essential to sustain a feasible model, to prepare for future integration of routine genetic testing in other cancers.

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy

What is currently known about medical specialists’ perceptions of genomics is reviewed, these findings are compared to those from the genetics era, and areas for future research are identified.

Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning

The findings show that participants believe that experiential learning in genomic medicine is necessary to develop the confidence and skills needed for clinical care, and highlight the need to include opportunities for experientials learning in continuing education.

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

The use of an implementation science framework, RE-AIM (Reach, Effectiveness, Adoption, Implementation and Maintenance), to conduct a post-hoc evaluation and report outcomes from these two programs to inform the potential impact of DNA-based population screening is demonstrated.

Advancing global equity in cancer genomics - challenges and opportunities in Sub-Saharan Africa.

Role of Precision Oncology in Type II Endometrial and Prostate Cancers in the African Population: Global Cancer Genomics Disparities

The role of precision oncology in PCa and ECa in the African population will be discussed and non-coding RNAs continue to emerge as important regulators of gene expression and the key molecular pathways involved in tumorigenesis.