Skip to main content
Series
The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Panel: Will it be easier to cure sickle cell disease through gene therapy than prevent the disease through pre-implantation genetic testing for the selection of unaffected embryos?

Type
Conference

ELSIcon2022 • Panel • May 27, 2022

Joshua Combs, Sigal Klipstein, Jeanne O'Brien, Erin Rothwell

Sickle cell disease (SCD) is an inherited hemoglobinopathy that results in a pattern of early morbidity and mortality occurring in approximately 1 out of every 365 Black or African American births in the United States, and fewer in other ethnicities.
Those affected have a greatly diminished quality of life and can pose significant resource burdens on themselves and the healthcare system. Important progress has been made through screening of newborns and disease modifying treatments for those found to be affected. However, despite these advances, those with SCD suffer from recurrent pain crises and a cascade of resulting comorbidities throughout their often-shortened lifetimes.
For more than twenty years it has been possible to prevent disease transmission of many inherited disorders, including SCD, through preimplantation genetic testing of embryos during in vitro fertilization (IVF). With IVF, 75% of embryos are expected to be unaffected. Of these, 2/3 will be carriers of SCD, and the resulting children would be expected to be unaffected by SCD. The remaining 1/3 of the unaffected embryos will not even carry SCD, thus eliminating this gene mutation from the gene pool for subsequent generations of offspring. Couples at risk for being carriers must be aware or made aware of their carrier status prior to conception to enable their utilization of preimplantation reproductive diagnostics against genetically inherited disease processes. While highly successful, this approach requires knowledge, significant time and financial resources.

Tags

Keywords
Pre-Recorded
Panel
Access to genetic screening and therapies
Gene therapy and gene editing

Videos in Series

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 12

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Fresh Air for Genetic Data Sharing

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Flash Session 2

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Moderated Plenary Panel

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 14

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 13

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 17

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 15

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 11

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 10

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 9

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 5

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 8

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 7

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Trainee Networking Session: Working with NHGRI

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Diversity’s Pandemic Distractions

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 6

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 4

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 3

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 2

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 1

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Flash Session 1

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Toward an anthropology of rare disease

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: In the Shadows of Virtual Family Trees

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: ELSI and the New Precision Stewards?

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: The ELSI of Pandemic Biobanking

The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Whose future should we worry about?

Related Videos