Literature DB >> 24188662

Adult genetic risk screening.

C Thomas Caskey1, Manuel L Gonzalez-Garay, Stacey Pereira, Amy L McGuire.   

Abstract

Recent advances in genetic analysis especially DNA sequencing technology open a new strategy for adult disease prevention by genetic screening. Physicians presently treat disease pathology with less emphasis on disease risk prevention/reduction. Genetic screening has reduced the incidence of untreatable childhood genetic diseases and improved the care of newborns. The opportunity exists to expand screening programs and reduce the incidence of adult onset diseases via genetic risk identification and disease intervention. This article outlines the approach, challenges, and benefits of such screening for adult genetic disease risks.

Entities:  

Mesh:

Year:  2013        PMID: 24188662     DOI: 10.1146/annurev-med-111212-144716

Source DB:  PubMed          Journal:  Annu Rev Med        ISSN: 0066-4219            Impact factor:   13.739


  6 in total

1.  The road from next-generation sequencing to personalized medicine.

Authors:  Manuel L Gonzalez-Garay
Journal:  Per Med       Date:  2014       Impact factor: 2.512

Review 2.  Precision reproductive medicine: multigene panel testing for infertility risk assessment.

Authors:  Stephen C Collins
Journal:  J Assist Reprod Genet       Date:  2017-05-03       Impact factor: 3.412

3.  Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.

Authors:  Philip J Lupo; Jill O Robinson; Pamela M Diamond; Leila Jamal; Heather E Danysh; Jennifer Blumenthal-Barby; Lisa Soleymani Lehmann; Jason L Vassy; Kurt D Christensen; Robert C Green; Amy L McGuire
Journal:  Per Med       Date:  2016-01-08       Impact factor: 2.512

4.  Molecular diagnostic experience of whole-exome sequencing in adult patients.

Authors:  Jennifer E Posey; Jill A Rosenfeld; Regis A James; Matthew Bainbridge; Zhiyv Niu; Xia Wang; Shweta Dhar; Wojciech Wiszniewski; Zeynep H C Akdemir; Tomasz Gambin; Fan Xia; Richard E Person; Magdalena Walkiewicz; Chad A Shaw; V Reid Sutton; Arthur L Beaudet; Donna Muzny; Christine M Eng; Yaping Yang; Richard A Gibbs; James R Lupski; Eric Boerwinkle; Sharon E Plon
Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822

Review 5.  Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.

Authors:  Michael D Linderman; Daiva E Nielsen; Robert C Green
Journal:  J Pers Med       Date:  2016-03-25

6.  Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.

Authors:  Bradley A Perkins; C Thomas Caskey; Pamila Brar; Eric Dec; David S Karow; Andrew M Kahn; Ying-Chen Claire Hou; Naisha Shah; Debbie Boeldt; Erin Coughlin; Gabby Hands; Victor Lavrenko; James Yu; Andrea Procko; Julia Appis; Anders M Dale; Lining Guo; Thomas J Jönsson; Bryan M Wittmann; Istvan Bartha; Smriti Ramakrishnan; Axel Bernal; James B Brewer; Suzanne Brewerton; William H Biggs; Yaron Turpaz; J Craig Venter
Journal:  Proc Natl Acad Sci U S A       Date:  2018-03-19       Impact factor: 11.205

  6 in total

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