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. A primer in interpreting and communicating genetic testing results is also presented.
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
Learning Pathway(s)
- Genetic Diseases of the Kidneys
Moderators
- John Andrew Sayer, MBChB, PhD
- Bessie A. Young, MD, MPH, FASN
Presentations
- The Value of a Genetic Diagnosis for a Kidney Disease Patient
10:30 AM - 11:10 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 runs 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 - 11:10 AM
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- Pitfalls in Kidney Gene and Variant Interpretation and What We Can Do About It
11:10 AM - 11:50 AM
Andrew John Mallett, MBBS, PhD, FASN
Andrew John Mallett, MBBS, PhD, FASN
Prof Andrew Mallett is a Nephrologist with a special interest in inherited kidney disease and nephrogenetics. He has completed physician and adult nephrology training In Australia and undertaken a Churchill Fellowship at Addenbrooke's Hospital and the Cambridge Institute for Medical Research. His PhD in nephrogenetics involved extensive national and international collaboration. Prof Mallett is Director of Clinical Research and Nephrologist at Townsville University Hospital and co-leads the Queensland Conjoint Renal Genetics Service. He is the National Director of the KidGen Collaborative, two AGHA Flagships and Co-Chair of the ClinGen Kidney CDWG.
Pitfalls in Kidney Gene and Variant Interpretation and What We Can Do About It
October 23, 2020 | 11:10 AM - 11:50 AM
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- APOL1 Testing: When to Consider in Clinical Practice
11:50 AM - 12:30 PM
Ebele M. Umeukeje, MD, MPH
Ebele M. Umeukeje, MD, MPH
Dr. Ebele Mary-Anne Umeukeje is an Assistant Professor of Medicine in the Division of Nephrology and Hypertension at Vanderbilt University Medical Center. Her research aims to reduce the high morbidity and mortality associated with kidney disease by improving self-care in vulnerable populations, addressing psychosocial determinants. Her research promotes health equity for patients of racial, ethnic and gender minorities as well as those with limited health literacy and lower socioeconomic resources. With previous funding support through a BIRCWH K12 award, and currently, an NIDDK K23 award, Dr. Umeukeje is examining novel patient and provider-specific psychosocial determinants of dialysis treatment adherence in African American patients with end-stage kidney disease. Her goal is to develop culturally-sensitive strategies to improve delivery of care and outcomes in advanced kidney disease.
Dr. Umeukeje also has recognized expertise and experience in engaging the community to understand the needs and priorities for best kidney health. She conducted focus group sessions in African American churches in Nashville to determine barriers and facilitators to uptake of free kidney screening services, with findings published in a 2018 CJASN article selected as “Editor’s choice”. As a co-investigator in a multi-site study titled “Community-based Evaluation of APOL1 Genetic Testing in Kidney Disease”, she successfully co-facilitated community deliberative sessions with African Americans in Nashville, Seattle and Jackson. The findings were documented in a 2019 JASN article selected as one of the best of JASN publications highlighted at the 2019 American Society of Nephrology conference.
APOL1 Testing: When to Consider in Clinical Practice
October 23, 2020 | 11:50 AM - 12:30 PM
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