ELSIconversations with the Ancestry and Diversity Working Group (ADWG) of ClinGen
The initial ADWG ELSIconversations were comprised of a series of three events on population descriptors (e.g., race, ethnicity, and/or ancestry) on clinical genetics laboratory requisition forms. ELSI scholars were invited, along with genetic and genomic researchers and those in related disciplines, to join us for these ELSIconversations and add their voice to interactive discussions of population descriptors in clinical care and genomics. The sessions were held between April - May 2022, and the schedule is listed below:
Schedule and Videos
April 29: Shedding Light on the Use of Population Descriptors in Clinical Genetics - Watch the recording
Question: How is information about patient race, ethnicity, and ancestry on clinical laboratory requisition forms used in your work? In clinical genetics more broadly?
Goal: Understand context for race, ethnicity, and ancestry on clinical lab requisition forms
- Alice Popejoy, PhD: Shedding Light on the Use of Population Descriptors in Clinical Genetics
- Gillian Hooker, PhD, ScM, CGC: The Challenges of Standardization in a System with Complex Incentives
- Hannah Wand, MS, CGC: Race, Ethnicity, and Ancestry (REA) in Clinical Genetics: Variability in Collection and Use
Moderator: Mildred Cho, PhD
May 6: Utility of Population Descriptors in Clinical Genetics - Watch the recording
Question: What is the most important information, conceptually, for clinical genetics professionals to do their jobs well? Is the information always necessary; if not, when is it critical vs. extraneous? When is it potentially harmful?
Goal: Distill the most relevant information among population descriptors that serves a purpose in the clinical curation pipeline, or other clinical genetics work
- Julia Gimbernat-Mayol, MEng: Clinical Genetics Laboratories Use Divergent Demographic Frameworks Across Countries
- Carlee Dawson, BA: Diversity Measures in Genomic Medicine
- Dee McKnight, PhD: How Race, Ethnicity, and Ancestry Information is Used in Genetic Diagnostics: One Lab's Perspective
Moderator: Shoumita Dasgupta, PhD
Question: If changes to these forms were to be recommended, what are the considerations that need to be made to implement these changes? Barriers/opportunities?
Goal: Identify the considerations necessary to change these clinical forms
- Laura Duque-Lasio, MD: Challenges in Implementing Changes in the Collection of Race, Ethnicity, and Ancestry Data in Test Requisition Forms
- Ana Morales, MS, CGC: Standardizing Lab Requisition Forms for Hypertrophic Cardiomyopathy (HCM): A ClinGen Cardiovascular Disease Working Group Initiative
Moderator: Altovise Ewing, PhD, LCGC