Comprehensive Genetic Testing Informs Diagnosis and Facilitates Management in Patients with Kidney Diseases

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Session Description

In both pediatric and adult populations, genetic renal diseases are underdiagnosed and underappreciated. In a cohort of patients selected by clinicians based on suspicion of a monogenic kidney disease, we show that the genetic diagnostic rate is very high (~45%) if comprehensive genetic testing is done. A broad range of Mendelian diseases can be diagnosed, including cystic kidney disease, congenital anomalies of the kidney and urinary tract (CAKUTs), tubulointerstitial disease and glomerular disease. In addition, non-Mendelian genetic disease is also seen, including bilineal and digenic disease, atypical forms of disease and unsuspected disease. As such, comprehensive genetic testing has an important place in the clinical care and evaluation of the renal patient.

Learning Objectives

At the conclusion of the series, participants should be able to:

Describe the clinical utility of whole exome/whole genome sequencing tests
Identify clinical indications for whole exome/whole genome sequencing
List determinants used to assess the probability of a variant’s pathogenicity
Elaborate on the importance of pre-test counseling and consent

Session Learning Objectives

At the conclusion of this session, participants should be able to:

Describe the clinical utility of targeted sequencing as applied to renal diseases
Identify clinical indications for which targeted testing would be applicable
Explain the likelihood of a positive genetic diagnosis
Discuss the limitations of this type of testing
Elaborate on the importance of pre-test and post-test counseling and consent

Financial Disclosures

Planning Committee

Anne Slavotinek, MB.BS., PhD, FACMG

ACMG Education Committee Chair and Liaison to the Program Committee

Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate

John Bernat, MD, PhD, FACMG

University of Iowa

Disclosures: Grant/research support: Idorsia, Pfizer, Protalix, Sanofi Genzyme, Takeda. Advisory boards: Sanofi Genzyme, Takeda

Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG

Presenter Disclosures

Christie P Thomas MBBS

Professor of Internal Medicine, Pediatrics and Molecular Medicine

Director, Renal Genetics Clinic, Carver College of Medicine

Disclosures: Grant/research support: Shire Viropharma

Richard JH Smith, MD

Professor of Internal Medicine, Pediatrics and Molecular Medicine

Director, Iowa Institute of Human Genetics, Carver College of Medicine

Nothing to disclose.

Maggie E. Freese, MS, CGC

Associate Genetic Counselor, Department of Medicine, Carver College of Medicine

Nothing to disclose.

Full Course Information

Faculty

Christie P Thomas MBBS

Professor of Internal Medicine, Pediatrics and Molecular Medicine

Director, Renal Genetics Clinic, Carver College of Medicine

John E. Le Christie P Thomas MBBS

Richard JH Smith, MD

Professor of Internal Medicine, Pediatrics and Molecular Medicine

Director, Iowa Institute of Human Genetics, Carver College of Medicine

Richard JH Smith, MD

Maggie E. Freese, MS, CGC

Associate Genetic Counselor, Department of Medicine, Carver College of Medicine

Summary


Availability:	Retired


Cost:	ACMG Member: $0.00 Non-Member: $30.00 Postdoc/Trainee (M): $0.00 Postdoc/Trainee (NM): $30.00 Student (M): $0.00 Student (NM): $30.00


Credit Offered:	No Credit Offered