Literature DB >> 29043570

Towards precision nephrology: the opportunities and challenges of genomic medicine.

Jordan G Nestor1, Emily E Groopman1, Ali G Gharavi2.   

Abstract

The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.

Entities:  

Keywords:  Copy number variants; Genetic testing; Nephrology; Next generation sequencing; Return of results; Variant interpretation

Mesh：

Year:  2017        PMID： 29043570      PMCID： PMC5777884          DOI： 10.1007/s40620-017-0448-0

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


  130 in total

1.  Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?

Authors:  Ma'n H Zawati; David Parry; Adrian Thorogood; Minh Thu Nguyen; Kym M Boycott; David Rosenblatt; Bartha Maria Knoppers
Journal:  J Med Genet       Date:  2013-09-27       Impact factor: 6.318

2.  A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Authors:  Kornelia Neveling; Ilse Feenstra; Christian Gilissen; Lies H Hoefsloot; Erik-Jan Kamsteeg; Arjen R Mensenkamp; Richard J T Rodenburg; Helger G Yntema; Liesbeth Spruijt; Sascha Vermeer; Tuula Rinne; Koen L van Gassen; Danielle Bodmer; Dorien Lugtenberg; Rick de Reuver; Wendy Buijsman; Ronny C Derks; Nienke Wieskamp; Bert van den Heuvel; Marjolijn J L Ligtenberg; Hannie Kremer; David A Koolen; Bart P C van de Warrenburg; Frans P M Cremers; Carlo L M Marcelis; Jan A M Smeitink; Saskia B Wortmann; Wendy A G van Zelst-Stams; Joris A Veltman; Han G Brunner; Hans Scheffer; Marcel R Nelen
Journal:  Hum Mutat       Date:  2013-10-18       Impact factor: 4.878

3.  Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.

Authors:  Matthias Olden; Alexander Teumer; Murielle Bochud; Cristian Pattaro; Anna Köttgen; Stephen T Turner; Rainer Rettig; Ming-Huei Chen; Abbas Dehghan; Francois Bastardot; Reinhold Schmidt; Peter Vollenweider; Heribert Schunkert; Muredach P Reilly; Myriam Fornage; Lenore J Launer; Germaine C Verwoert; Gary F Mitchell; Joshua C Bis; Christopher J O'Donnell; Ching-Yu Cheng; Xueling Sim; David S Siscovick; Josef Coresh; W H Linda Kao; Caroline S Fox; Conall M O'Seaghdha
Journal:  Am J Kidney Dis       Date:  2013-03-06       Impact factor: 8.860

4.  Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Authors:  Yali Xue; Yuan Chen; Qasim Ayub; Ni Huang; Edward V Ball; Matthew Mort; Andrew D Phillips; Katy Shaw; Peter D Stenson; David N Cooper; Chris Tyler-Smith
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

5.  Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Authors:  Richa Saxena; Benjamin F Voight; Valeriya Lyssenko; Noël P Burtt; Paul I W de Bakker; Hong Chen; Jeffrey J Roix; Sekar Kathiresan; Joel N Hirschhorn; Mark J Daly; Thomas E Hughes; Leif Groop; David Altshuler; Peter Almgren; Jose C Florez; Joanne Meyer; Kristin Ardlie; Kristina Bengtsson Boström; Bo Isomaa; Guillaume Lettre; Ulf Lindblad; Helen N Lyon; Olle Melander; Christopher Newton-Cheh; Peter Nilsson; Marju Orho-Melander; Lennart Råstam; Elizabeth K Speliotes; Marja-Riitta Taskinen; Tiinamaija Tuomi; Candace Guiducci; Anna Berglund; Joyce Carlson; Lauren Gianniny; Rachel Hackett; Liselotte Hall; Johan Holmkvist; Esa Laurila; Marketa Sjögren; Maria Sterner; Aarti Surti; Margareta Svensson; Malin Svensson; Ryan Tewhey; Brendan Blumenstiel; Melissa Parkin; Matthew Defelice; Rachel Barry; Wendy Brodeur; Jody Camarata; Nancy Chia; Mary Fava; John Gibbons; Bob Handsaker; Claire Healy; Kieu Nguyen; Casey Gates; Carrie Sougnez; Diane Gage; Marcia Nizzari; Stacey B Gabriel; Gung-Wei Chirn; Qicheng Ma; Hemang Parikh; Delwood Richardson; Darrell Ricke; Shaun Purcell
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

6.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

7.  ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

Authors:  Sarah T South; Charles Lee; Allen N Lamb; Anne W Higgins; Hutton M Kearney
Journal:  Genet Med       Date:  2013-09-26       Impact factor: 8.822

Review 8.  Current insights into renal ciliopathies: what can genetics teach us?

Authors:  Heleen H Arts; Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2012-07-25       Impact factor: 3.714

9.  The GUDMAP database--an online resource for genitourinary research.

Authors:  Simon D Harding; Chris Armit; Jane Armstrong; Jane Brennan; Ying Cheng; Bernard Haggarty; Derek Houghton; Sue Lloyd-MacGilp; Xingjun Pi; Yogmatee Roochun; Mehran Sharghi; Christopher Tindal; Andrew P McMahon; Brian Gottesman; Melissa H Little; Kylie Georgas; Bruce J Aronow; S Steven Potter; Eric W Brunskill; E Michelle Southard-Smith; Cathy Mendelsohn; Richard A Baldock; Jamie A Davies; Duncan Davidson
Journal:  Development       Date:  2011-07       Impact factor: 6.868

Review 10.  Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.

Authors:  Tony Shen; Stefan Hans Pajaro-Van de Stadt; Nai Chien Yeat; Jimmy C-H Lin
Journal:  Front Genet       Date:  2015-06-17       Impact factor: 4.599
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  5 in total

1.  From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting.

Authors:  Andrew L Lundquist; Renee C Pelletier; Courtney E Leonard; Winfred W Williams; Katrina A Armstrong; Heidi L Rehm; Eugene P Rhee
Journal:  Kidney360       Date:  2020-08-12

2.  DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Authors:  Alexandria T M Blackburn; Nasim Bekheirnia; Vanessa C Uma; Mark E Corkins; Yuxiao Xu; Jill A Rosenfeld; Matthew N Bainbridge; Yaping Yang; Pengfei Liu; Suneeta Madan-Khetarpal; Mauricio R Delgado; Louanne Hudgins; Ian Krantz; David Rodriguez-Buritica; Patricia G Wheeler; Lihadh Al-Gazali; Aisha Mohamed Saeed Mohamed Al Shamsi; Natalia Gomez-Ospina; Hsiao-Tuan Chao; Ghayda M Mirzaa; Angela E Scheuerle; Mary K Kukolich; Fernando Scaglia; Christine Eng; Helen Rankin Willsey; Michael C Braun; Dolores J Lamb; Rachel K Miller; Mir Reza Bekheirnia
Journal:  Genet Med       Date:  2019-07-02       Impact factor: 8.822

Review 3.  Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.

Authors:  Amber de Haan; Mark Eijgelsheim; Liffert Vogt; Nine V A M Knoers; Martin H de Borst
Journal:  Front Genet       Date:  2019-12-13       Impact factor: 4.599

Review 4.  At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants.

Authors:  Kathleen M West; Erika Blacksher; Kerri L Cavanaugh; Stephanie M Fullerton; Ebele M Umeukeje; Bessie A Young; Wylie Burke
Journal:  Clin J Am Soc Nephrol       Date:  2020-02-10       Impact factor: 8.237

5.  Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance.

Authors:  Katherine M Spiech; Purnima R Tripathy; Alex M Woodcock; Nehal A Sheth; Kimberly S Collins; Karthik Kannegolla; Arjun D Sinha; Asif A Sharfuddin; Victoria M Pratt; Myda Khalid; David S Hains; Sharon M Moe; Todd C Skaar; Ranjani N Moorthi; Michael T Eadon
Journal:  Life (Basel)       Date:  2020-03-26
  5 in total

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