Literature DB >> 26191339

Toward Best Practice in Using Molecular Diagnosis to Guide Medical Management, Are We There Yet?

Anne Chun-Hui Tsai1, Xuezhong Liu2.   

Abstract

Molecular genetics testing has made several huge breakthroughs in the past two decades and many molecular technologies have been applied to our daily medical progress. However, the clinical utility has not reach a consensus by the medical and genetic peers as well as third party payers. The predictive value and clinical applications are variable from one condition to the other. Numerous questions remain including technology deficits, data interpretation and unpredicted phenotypes in complex disorders. In this commentary, the authors reviewed the historical perspective of genetic testing and summarized the current technical deficit, clinical dilemma and suggested a few critical threshold to overcome before the implementation of useful genetic information in standard health care can become a reality.

Entities:  

Keywords:  clinical application; clinical genetics; effective molecular genetic testing; exome; next generation re-sequencing; panel analysis; predictive power

Year:  2014        PMID: 26191339      PMCID: PMC4505911     

Source DB:  PubMed          Journal:  N Am J Med Sci (Boston)        ISSN: 1946-9357


  4 in total

1.  Medical genetics in the genomic medicine of the 21st century.

Authors:  Charles J Epstein
Journal:  Am J Hum Genet       Date:  2006-09       Impact factor: 11.025

Review 2.  Genomic medicine: a decade of successes, challenges, and opportunities.

Authors:  Jeanette J McCarthy; Howard L McLeod; Geoffrey S Ginsburg
Journal:  Sci Transl Med       Date:  2013-06-12       Impact factor: 17.956

3.  Genome sequencing identifies major causes of severe intellectual disability.

Authors:  Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal:  Nature       Date:  2014-06-04       Impact factor: 49.962

Review 4.  Implementing genomic medicine in the clinic: the future is here.

Authors:  Teri A Manolio; Rex L Chisholm; Brad Ozenberger; Dan M Roden; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Charis Eng; Kelly A Frazer; Bruce Korf; David H Ledbetter; James R Lupski; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Daniel J Rader; Mary V Relling; Alan R Shuldiner; David Valle; Richard Weinshilboum; Eric D Green; Geoffrey S Ginsburg
Journal:  Genet Med       Date:  2013-01-10       Impact factor: 8.822

  4 in total
  4 in total

1.  Progress in Recognizing and Treating Polyneuropathy.

Authors:  Bernd C Kieseier; Hans-Peter Hartung
Journal:  Dtsch Arztebl Int       Date:  2018-02-09       Impact factor: 5.594

2.  A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Authors:  Demet Tekin; Denise Yan; Guney Bademci; Yong Feng; Shengru Guo; Joseph Foster; Susan Blanton; Mustafa Tekin; Xuezhong Liu
Journal:  Hear Res       Date:  2016-02-02       Impact factor: 3.208

3.  Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Authors:  Denise Yan; Demet Tekin; Guney Bademci; Joseph Foster; F Basak Cengiz; Abhiraami Kannan-Sundhari; Shengru Guo; Rahul Mittal; Bing Zou; Mhamed Grati; Rosemary I Kabahuma; Mohan Kameswaran; Taye J Lasisi; Waheed A Adedeji; Akeem O Lasisi; Ibis Menendez; Marianna Herrera; Claudia Carranza; Reza Maroofian; Andrew H Crosby; Mariem Bensaid; Saber Masmoudi; Mahdiyeh Behnam; Majid Mojarrad; Yong Feng; Duygu Duman; Alex M Mawla; Alex S Nord; Susan H Blanton; Xue Z Liu; Mustafa Tekin
Journal:  Hum Genet       Date:  2016-06-25       Impact factor: 4.132

Review 4.  Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Authors:  Natasha T Strande; Jonathan S Berg
Journal:  Annu Rev Genomics Hum Genet       Date:  2016-05-26       Impact factor: 8.929

  4 in total

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