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Comprehensive Genetic Testing Informs Diagnosis and Facilitates Management in Patients with Kidney Diseases
University of Iowa Carver College of Medicine
About this course

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:

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

Session Learning Objectives

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

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


Faculty:

Christie P Thomas MBBS

Professor of Internal Medicine, Pediatrics and Molecular Medicine

Director, Renal Genetics Clinic, Carver College of Medicine





Richard JH Smith, MD

Professor of Internal Medicine, Pediatrics and Molecular Medicine

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

 

Maggie E. Freese, MS, CGC

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

 

Accreditation Statement

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Designation Statement

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Claiming your CME Credits

Complete the activity and carefully take the CME quiz. You can take the quiz as many times as you like until you complete it successfully. Physicians who complete the CME course and score at least 80 percent correct on the quiz are eligible for credits.  Next, complete evaluation form.  You can view and print a certificate awarding 1 AMA PRA Category 1 Credits™.

CME Course Expiration

Enduring materials: Three years after the specific activity date.  See expiration date.

 Target Audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Off-label Drug Use statement

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.

Disclosures of Financial Relationships

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.

Summary
Availability: On-Demand
Expires on 10/23/2022
Cost: ACMG Member: $15.00
Non-Member: $55.00
Postdoc/Trainee (M): $15.00
Postdoc/Trainee (NM): $55.00
Student (M): $15.00
Student (NM): $55.00
Credit Offered: 1 CME (AMA) Credit
1 CME (Other) Credit
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