Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary
Rationale & Objective: There has been an increasing demand for the expertise provided by a renal genetics clinic. Such programs are limited in the United States and typically operate in a genomics research setting. Here we report a 3-year, real-world, single-center renal genetics clinic expe...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-02-01
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| Series: | Kidney Medicine |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2590059522002187 |
| _version_ | 1811167239411335168 |
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| author | Xin Yee Tan Chloe Borden Mary-Beth Roberts Sarah Mazzola Queenie K.-G. Tan Richard Fatica James Simon Juan Calle Jonathan Taliercio Katherine Dell Laura Ferreira Provenzano Diana Deitzer Hernan Rincon-Choles Ali Mehdi Michael Lioudis Emilio D. Poggio Georges Nakhoul Saul Nurko Tarek Ashour Raed N. Bou Matar Charles Kwon Brian Stephany George Thomas Yu-Wei Cheng Deanna Leingang Adnan Alsadah Rhyan Maditz Heyka Robert Tushar Vachhrajani John Sedor Crystal Gadegbeku Xiangling Wang |
| author_facet | Xin Yee Tan Chloe Borden Mary-Beth Roberts Sarah Mazzola Queenie K.-G. Tan Richard Fatica James Simon Juan Calle Jonathan Taliercio Katherine Dell Laura Ferreira Provenzano Diana Deitzer Hernan Rincon-Choles Ali Mehdi Michael Lioudis Emilio D. Poggio Georges Nakhoul Saul Nurko Tarek Ashour Raed N. Bou Matar Charles Kwon Brian Stephany George Thomas Yu-Wei Cheng Deanna Leingang Adnan Alsadah Rhyan Maditz Heyka Robert Tushar Vachhrajani John Sedor Crystal Gadegbeku Xiangling Wang |
| author_sort | Xin Yee Tan |
| collection | DOAJ |
| description | Rationale & Objective: There has been an increasing demand for the expertise provided by a renal genetics clinic. Such programs are limited in the United States and typically operate in a genomics research setting. Here we report a 3-year, real-world, single-center renal genetics clinic experience. Study Design: Retrospective cohort. Setting & Participants: Outpatient cases referred to the renal genetics clinic of the Cleveland Clinic between January 2019 and March 2022 were reviewed. Analytical Approach: Clinical and laboratory characteristics were analyzed. All genetic testing was performed in clinical labs. Results: 309 new patients referred from 15 specialties were evaluated, including 118 males and 191 females aged 35.1 ± 20.3 years. Glomerular diseases were the leading presentation followed by cystic kidney diseases, electrolyte disorders, congenital anomalies of kidneys and urinary tract, nephrolithiasis, and tubulointerstitial kidney diseases. Dysmorphic features were noted in 27 (8.7%) patients. Genetic testing was recommended in 292 (94.5%) patients including chromosomal microarray (8.9%), single-gene tests (19.5%), multigene panels (77.3%), and exome sequencing (17.5%). 80.5% of patients received insurance coverage for genetic testing. 45% (115/256) of patients had positive results, 25% (64/256) had variants of unknown significance, and 22.3% (57/256) had negative results. 43 distinct monogenic disorders were diagnosed. Family history of kidney disease was present in 52.8% of patients and associated with positive genetic findings (OR, 2.28; 95% CI, 1.40-3.74). 69% of patients with positive results received a new diagnosis and/or a change in the diagnosis. Among these, 39.7% (31/78) of patients received a significant change in disease management. Limitations: Retrospective and single-center study. Conclusions: The renal genetics clinic plays important roles in the diagnosis and management of patients with genetic kidney diseases. Multigene panels are the most frequently used testing modality with a high diagnostic yield. Family history of kidney disease is a strong indication for renal genetics clinic referral. |
| first_indexed | 2024-04-10T16:07:05Z |
| format | Article |
| id | doaj.art-6b849a4034d44aa5b072e20c0f99cd74 |
| institution | Directory Open Access Journal |
| issn | 2590-0595 |
| language | English |
| last_indexed | 2024-04-10T16:07:05Z |
| publishDate | 2023-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney Medicine |
| spelling | doaj.art-6b849a4034d44aa5b072e20c0f99cd742023-02-10T04:23:16ZengElsevierKidney Medicine2590-05952023-02-0152100585Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language SummaryXin Yee Tan0Chloe Borden1Mary-Beth Roberts2Sarah Mazzola3Queenie K.-G. Tan4Richard Fatica5James Simon6Juan Calle7Jonathan Taliercio8Katherine Dell9Laura Ferreira Provenzano10Diana Deitzer11Hernan Rincon-Choles12Ali Mehdi13Michael Lioudis14Emilio D. Poggio15Georges Nakhoul16Saul Nurko17Tarek Ashour18Raed N. Bou Matar19Charles Kwon20Brian Stephany21George Thomas22Yu-Wei Cheng23Deanna Leingang24Adnan Alsadah25Rhyan Maditz26Heyka Robert27Tushar Vachhrajani28John Sedor29Crystal Gadegbeku30Xiangling Wang31Department of Kidney Medicine, Cleveland Clinic, Cleveland, OhioCleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OhioCenter for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OhioCenter for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OhioCenter for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioCenter for Pediatric Nephrology and Hypertension, Cleveland Clinic Children’s, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioSection of Nephrology, Upstate Medical University, Syracuse, New YorkDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioCenter for Pediatric Nephrology and Hypertension, Cleveland Clinic Children’s, Cleveland, OhioCenter for Pediatric Nephrology and Hypertension, Cleveland Clinic Children’s, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioMolecular Genetics, Cleveland Clinic, Cleveland, OhioCenter for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OhioCenter for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, OhioDepartment of Kidney Medicine, Cleveland Clinic, Cleveland, Ohio; Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, Ohio; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio; Department of Molecular Medicine, Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio; Address for Correspondence: Xiangling Wang, MD, PhD, 9500 Euclid Ave, Cleveland, OH 44195Rationale & Objective: There has been an increasing demand for the expertise provided by a renal genetics clinic. Such programs are limited in the United States and typically operate in a genomics research setting. Here we report a 3-year, real-world, single-center renal genetics clinic experience. Study Design: Retrospective cohort. Setting & Participants: Outpatient cases referred to the renal genetics clinic of the Cleveland Clinic between January 2019 and March 2022 were reviewed. Analytical Approach: Clinical and laboratory characteristics were analyzed. All genetic testing was performed in clinical labs. Results: 309 new patients referred from 15 specialties were evaluated, including 118 males and 191 females aged 35.1 ± 20.3 years. Glomerular diseases were the leading presentation followed by cystic kidney diseases, electrolyte disorders, congenital anomalies of kidneys and urinary tract, nephrolithiasis, and tubulointerstitial kidney diseases. Dysmorphic features were noted in 27 (8.7%) patients. Genetic testing was recommended in 292 (94.5%) patients including chromosomal microarray (8.9%), single-gene tests (19.5%), multigene panels (77.3%), and exome sequencing (17.5%). 80.5% of patients received insurance coverage for genetic testing. 45% (115/256) of patients had positive results, 25% (64/256) had variants of unknown significance, and 22.3% (57/256) had negative results. 43 distinct monogenic disorders were diagnosed. Family history of kidney disease was present in 52.8% of patients and associated with positive genetic findings (OR, 2.28; 95% CI, 1.40-3.74). 69% of patients with positive results received a new diagnosis and/or a change in the diagnosis. Among these, 39.7% (31/78) of patients received a significant change in disease management. Limitations: Retrospective and single-center study. Conclusions: The renal genetics clinic plays important roles in the diagnosis and management of patients with genetic kidney diseases. Multigene panels are the most frequently used testing modality with a high diagnostic yield. Family history of kidney disease is a strong indication for renal genetics clinic referral.http://www.sciencedirect.com/science/article/pii/S2590059522002187Genetic testingkidney diseaserenal genetics |
| spellingShingle | Xin Yee Tan Chloe Borden Mary-Beth Roberts Sarah Mazzola Queenie K.-G. Tan Richard Fatica James Simon Juan Calle Jonathan Taliercio Katherine Dell Laura Ferreira Provenzano Diana Deitzer Hernan Rincon-Choles Ali Mehdi Michael Lioudis Emilio D. Poggio Georges Nakhoul Saul Nurko Tarek Ashour Raed N. Bou Matar Charles Kwon Brian Stephany George Thomas Yu-Wei Cheng Deanna Leingang Adnan Alsadah Rhyan Maditz Heyka Robert Tushar Vachhrajani John Sedor Crystal Gadegbeku Xiangling Wang Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary Kidney Medicine Genetic testing kidney disease renal genetics |
| title | Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary |
| title_full | Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary |
| title_fullStr | Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary |
| title_full_unstemmed | Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary |
| title_short | Renal Genetics Clinic: 3-Year Experience in the Cleveland ClinicPlain-Language Summary |
| title_sort | renal genetics clinic 3 year experience in the cleveland clinicplain language summary |
| topic | Genetic testing kidney disease renal genetics |
| url | http://www.sciencedirect.com/science/article/pii/S2590059522002187 |
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