Nasim Bekheirnia1, Kevin E Glinton2, Linda Rossetti2, Joshua Manor2, Wuyan Chen3, Dolores J Lamb4, Michael C Braun1, Mir Reza Bekheirnia1,2. 1. Section of Pediatric Renal Disease, Department of Pediatrics, Baylor College of Medicine, Houston, Texas. 2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. 3. PreventionGenetics Diagnostic Laboratory, Marshfield, Wisconsin. 4. Department of Urology, Englander Institute for Precision Medicine and Center for Reproductive Genomics, Weill Cornell Medicine, New York, New York.
Abstract
Background: As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large, urban children's hospital for patients with kidney disorders. Methods: Genetic testing was performed in Clinical Laboratory Improvement Amendments-certified laboratories using single gene testing, multigene panels, chromosomal microarray, or exome sequencing. Results: A total of 192 patients were evaluated in this clinic, with cystic kidney disease (49/192) being the most common reason for referral, followed by congenital anomalies of the kidney and urinary tract (41/192) and hematuria (38/192). Genetic testing was performed for 158 patients, with an overall diagnostic yield of 81 out of 158 (51%). In the 16 out of 81 (20%) of patients who reached a genetic diagnosis, medical or surgical treatment of the patients were affected, and previous clinical diagnoses were changed to more accurate genetic diagnoses in 12 of 81 (15%) patients. Conclusions: Our genetic testing provided an accurate diagnosis for children and, in some cases, led to further diagnoses in seemingly asymptomatic family members and changes to overall medical management. Genetic testing, as facilitated by such a specialized clinical setting, thus appears to have clear utility in the diagnosis and counseling of patients with a wide range of kidney manifestations.
Background: As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large, urban children's hospital for patients with kidney disorders. Methods: Genetic testing was performed in Clinical Laboratory Improvement Amendments-certified laboratories using single gene testing, multigene panels, chromosomal microarray, or exome sequencing. Results: A total of 192 patients were evaluated in this clinic, with cystic kidney disease (49/192) being the most common reason for referral, followed by congenital anomalies of the kidney and urinary tract (41/192) and hematuria (38/192). Genetic testing was performed for 158 patients, with an overall diagnostic yield of 81 out of 158 (51%). In the 16 out of 81 (20%) of patients who reached a genetic diagnosis, medical or surgical treatment of the patients were affected, and previous clinical diagnoses were changed to more accurate genetic diagnoses in 12 of 81 (15%) patients. Conclusions: Our genetic testing provided an accurate diagnosis for children and, in some cases, led to further diagnoses in seemingly asymptomatic family members and changes to overall medical management. Genetic testing, as facilitated by such a specialized clinical setting, thus appears to have clear utility in the diagnosis and counseling of patients with a wide range of kidney manifestations.
Authors: Jillian K Warejko; Weizhen Tan; Ankana Daga; David Schapiro; Jennifer A Lawson; Shirlee Shril; Svjetlana Lovric; Shazia Ashraf; Jia Rao; Tobias Hermle; Tilman Jobst-Schwan; Eugen Widmeier; Amar J Majmundar; Ronen Schneider; Heon Yung Gee; J Magdalena Schmidt; Asaf Vivante; Amelie T van der Ven; Hadas Ityel; Jing Chen; Carolin E Sadowski; Stefan Kohl; Werner L Pabst; Makiko Nakayama; Michael J G Somers; Nancy M Rodig; Ghaleb Daouk; Michelle Baum; Deborah R Stein; Michael A Ferguson; Avram Z Traum; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan Fathy; Martin Zenker; Sevcan A Bakkaloglu; Dominik Müller; Aytul Noyan; Fatih Ozaltin; Melissa A Cadnapaphornchai; Seema Hashmi; Jeffrey Hopcian; Jeffrey B Kopp; Nadine Benador; Detlef Bockenhauer; Radovan Bogdanovic; Nataša Stajić; Gil Chernin; Robert Ettenger; Henry Fehrenbach; Markus Kemper; Reyner Loza Munarriz; Ludmila Podracka; Rainer Büscher; Erkin Serdaroglu; Velibor Tasic; Shrikant Mane; Richard P Lifton; Daniela A Braun; Friedhelm Hildebrandt Journal: Clin J Am Soc Nephrol Date: 2017-11-10 Impact factor: 8.237
Authors: Jan Halbritter; Michelle Baum; Ann Marie Hynes; Sarah J Rice; David T Thwaites; Zoran S Gucev; Brittany Fisher; Leslie Spaneas; Jonathan D Porath; Daniela A Braun; Ari J Wassner; Caleb P Nelson; Velibor Tasic; John A Sayer; Friedhelm Hildebrandt Journal: J Am Soc Nephrol Date: 2014-10-08 Impact factor: 10.121
Authors: Amelie T van der Ven; Dervla M Connaughton; Hadas Ityel; Nina Mann; Makiko Nakayama; Jing Chen; Asaf Vivante; Daw-Yang Hwang; Julian Schulz; Daniela A Braun; Johanna Magdalena Schmidt; David Schapiro; Ronen Schneider; Jillian K Warejko; Ankana Daga; Amar J Majmundar; Weizhen Tan; Tilman Jobst-Schwan; Tobias Hermle; Eugen Widmeier; Shazia Ashraf; Ali Amar; Charlotte A Hoogstraaten; Hannah Hugo; Thomas M Kitzler; Franziska Kause; Caroline M Kolvenbach; Rufeng Dai; Leslie Spaneas; Kassaundra Amann; Deborah R Stein; Michelle A Baum; Michael J G Somers; Nancy M Rodig; Michael A Ferguson; Avram Z Traum; Ghaleb H Daouk; Radovan Bogdanović; Natasa Stajić; Neveen A Soliman; Jameela A Kari; Sherif El Desoky; Hanan M Fathy; Danko Milosevic; Muna Al-Saffar; Hazem S Awad; Loai A Eid; Aravind Selvin; Prabha Senguttuvan; Simone Sanna-Cherchi; Heidi L Rehm; Daniel G MacArthur; Monkol Lek; Kristen M Laricchia; Michael W Wilson; Shrikant M Mane; Richard P Lifton; Richard S Lee; Stuart B Bauer; Weining Lu; Heiko M Reutter; Velibor Tasic; Shirlee Shril; Friedhelm Hildebrandt Journal: J Am Soc Nephrol Date: 2018-08-24 Impact factor: 10.121
Authors: Vicente E Torres; Arlene B Chapman; Olivier Devuyst; Ron T Gansevoort; Ronald D Perrone; Gary Koch; John Ouyang; Robert D McQuade; Jaime D Blais; Frank S Czerwiec; Olga Sergeyeva Journal: N Engl J Med Date: 2017-11-04 Impact factor: 91.245
Authors: Carolin E Sadowski; Svjetlana Lovric; Shazia Ashraf; Werner L Pabst; Heon Yung Gee; Stefan Kohl; Susanne Engelmann; Virginia Vega-Warner; Humphrey Fang; Jan Halbritter; Michael J Somers; Weizhen Tan; Shirlee Shril; Inès Fessi; Richard P Lifton; Detlef Bockenhauer; Sherif El-Desoky; Jameela A Kari; Martin Zenker; Markus J Kemper; Dominik Mueller; Hanan M Fathy; Neveen A Soliman; Friedhelm Hildebrandt Journal: J Am Soc Nephrol Date: 2014-10-27 Impact factor: 10.121
Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822
Authors: Andrew Mallett; Christopher Corney; Hugh McCarthy; Stephen I Alexander; Helen Healy Journal: Hum Genomics Date: 2015-06-24 Impact factor: 4.639