Realizing genomic medicine.

@article{Phimister2012RealizingGM,
  title={Realizing genomic medicine.},
  author={Elizabeth G. Phimister and W Gregory Feero and Alan Guttmacher},
  journal={The New England journal of medicine},
  year={2012},
  volume={366 8},
  pages={
          757-9
        }
}
The current series of Genomic Medicine review articles concludes in this issue of the Journal with the publication of an article on cognitive impairment and autism by Mefford and colleagues.1 The topic of this article is an appropriate capstone for the Genomic Medicine series: it highlights the clinical advances in genomics regarding the care of patients with neurologic conditions, and it shows the potential of genomic science to further accelerate the pace of discovery in the neurosciences… 
View on PubMed
doi.org
54 Citations
Background Citations
14

54 Citations

Citation Type

Citation Type

Molecular genetic testing and the future of clinical genomics
TLDR
The range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics are reviewed, and implementation challenges that will be necessary to address to ensure the future of genetic medicine are outlined.
The Human Genome Project, and recent advances in personalized genomics
TLDR
Several issues pertinent to health policy are discussed, namely: avoiding the conflation of genetics with biological determinism, resisting the "technological imperative”, due consideration of the organization of screening services, the need for professional education, as well as informed decision making and public understanding.
Personalized medicine in hematology — A landmark from bench to bed
  • G. Badalian-Very
  • Biology, Medicine
    Computational and structural biotechnology journal
  • 2014
Neurogenomics: An Egyptian perspective
  • W. Mohamed
  • Medicine
    Applied & translational genomics
  • 2015
Relevance of genomics to healthcare and nursing practice.
TLDR
Evidence reviews about the genomics of common healthcare conditions with relevance for nursing practice and services are provided to provide evidence of the state of the evidence about genomic variation and clinical applications for common diseases.
Genomic Testing: The Clinical Laboratory Perspective
  • H. Faruki
  • Biology
    Clinical pharmacology and therapeutics
  • 2013
TLDR
The expansion of genetic testing in the clinical laboratory is well under way, with many clinically validated genetic tests already in use and many obstacles remain for full incorporation of whole‐genome testing.
Genomic Medicine: Too Great Expectations?
  • P. O’Rourke
  • Political Science, Medicine
    Clinical pharmacology and therapeutics
  • 2013
TLDR
As advances in genomic medicine have captured the interest and enthusiasm of the public, an unintended consequence has been the creation of unrealistic expectations that have a negative impact on individuals as well as genomics in general.
Genetic Testing for Rare and Undiagnosed Diseases
Chapter 25 – Genetic Testing and Psychology
Challenges in global genomics education
...
1
2
3
4
5
...

References

SHOWING 1-2 OF 2 REFERENCES
Genomics, intellectual disability, and autism.
TLDR
Technological advances — which include array comparative genomic hy bridization (CGH), single-nucleotide-polymorphism (SNP) genotyping arrays, and massively parallel sequencing — have transformed the approach to the identification of etiologic genes and genomic rearrangements in the research laboratory and are now being applied in the clinical diagnostic arena.
Sense in antisense therapy for spinal muscular atrophy.
TLDR
Administration of an oligonucleotide that modifies the processing of SMN2, a homologous gene, extends the life span in a mouse model of SMA.