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, Biology
  • 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
19 Citations
Highly Influential Citations
1
Background Citations
4

19 Citations

Citation Type

Citation Type

Clinical utility of genomic sequencing: a measurement toolkit
TLDR
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.
Neptune: An environment for the delivery of genomic medicine
  • E. Venner, Victoria Yi, +16 authors R. Gibbs
  • Medicine
    Genetics in medicine : official journal of the American College of Medical Genetics
  • 2021
TLDR
Neptune, a system for managing the interaction between a clinical laboratory and an electronic health record system during the clinical reporting process, was successfully applied on two high-throughput clinical sequencing projects to build and deliver clinical reports to EHR systems.
Neptune: An environment for the delivery of genomic medicine
TLDR
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
TLDR
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
TLDR
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
TLDR
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
TLDR
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.
Advancing global equity in cancer genomics - challenges and opportunities in Sub-Saharan Africa.
TLDR
This mini review presents, from a health and science equity perspective, how genomics could shape cancer research and clinical care in SSA and highlights some pan-African genomics and cancer initiatives that are facilitating cancer genomics research in Ssa.
Healthcare Utilization and Costs after Receiving a Positive BRCA1/2 Result from a Genomic Screening Program
TLDR
Whether there is a difference in healthcare utilization and costs following disclosure of a pathogenic/likely pathogenic (P/LP) BRCA1/2 variant via a genomic screening program, and the post-disclosure uptake of National Comprehensive Cancer Network guideline-recommended risk management are determined.
DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students
TLDR
A hands-on Precision Medicine training program utilizing exome sequencing to prepare a clinical genetic report of cadavers studied in the anatomy lab is implemented, which reinforces Precision Medicine related learning objectives for the Genetics curriculum.
...
1
2
...