The Genomically Empowered Clinician
October 23, 2020 | 10:30 AM - 12:30 PM
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Clinical Practice Session
The Genomically Empowered Clinician
October 23, 2020 | 10:30 AM - 12:30 PM
Location: Live-Streamed
Session Description
It is incumbent on clinical nephrologists to acquire a conceptual model of the role of genomics in nephrology and to equip themselves with skills in the ordering, interpretation, and communication of genetic testing and results. This session delves into many of these aspects, beginning with a justification of the importance of genomics in nephrology and a description of the challenges in variant interpretation. Also presented are a primer in interpreting and communicating genetic testing results and a summary of the ethical, legal, and societal implications of genomic research.
Learning Objective(s)
- Enumerate the benefits of genomic testing in nephrology
- Describe the challenges in deciding whether a genetic change is pathogenic and strategies to improve classification
- Discuss how to interpret genetic testing results and communicate them to patients
- Identify the ethical, legal, and societal implications of genomic research in clinical and research settings
Learning Pathway(s)
- Genetic Diseases of the Kidneys
Moderators
- John Andrew Sayer, MBChB, PhD
- Bessie A. Young, MD, MPH, FASN
Presentations
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The Value of a Genetic Diagnosis for a Kidney Disease Patient
10:30 AM - 11:00 AM
Detlef Bockenhauer, MD, PhD
Detlef Bockenhauer, MD, PhD
Detlef Bockenhauer is a Professor of Paediatric Nephrology at the UCL Department of Renal Medicine and Honorary Consultant Nephrologist at Great Ormond Street Hospital for Children NHS Foundation Trust. He has studied Medicine in Germany and trained in Paediatrics and Nephrology in Hamburg, Germany, at New York University and Yale University, USA. He has a special interest in genetic renal diseases and has led or contributed to the identification of several different Mendelian disorders and disease genes. He has studied typical clinical features, as well as long-term outcome data for rare inherited renal diseases and established molecular genetic testing for numerous Mendelian renal disorders in the UK and run a renal genetic clinic with a clinical geneticist to facilitate diagnosis and counselling.
The Value of a Genetic Diagnosis for a Kidney Disease Patient
October 23, 2020 | 10:30 AM - 11:00 AM
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Pitfalls in Kidney Gene and Variant Interpretation and What We Can Do About It
11:00 AM - 11:30 AM
Andrew John Mallett, MBBS, PhD, FASN
Andrew John Mallett, MBBS, PhD, FASN
Pitfalls in Kidney Gene and Variant Interpretation and What We Can Do About It
October 23, 2020 | 11:00 AM - 11:30 AM
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Ethical, Legal, and Societal Implications of Clinical and Research Genetic Testing
11:30 AM - 12:00 PM
Ethical, Legal, and Societal Implications of Clinical and Research Genetic Testing
October 23, 2020 | 11:30 AM - 12:00 PM
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APOL1 Testing: When to Consider in Clinical Practice
12:00 PM - 12:30 PM
Ebele M. Umeukeje, MD, MPH
Ebele M. Umeukeje, MD, MPH
APOL1 Testing: When to Consider in Clinical Practice
October 23, 2020 | 12:00 PM - 12:30 PM
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