New Prenatal Genetic Screens Pose Underappreciated Ethical Dilemmas
By Daniel Navon,
| 05. 05. 2022
Imagine you are an expectant parent. Just a couple of months into your pregnancy, you opt for an easy genetic screen. A result comes back: the fetus is likely missing a chunk of DNA at site 11.2 on the long arm of the 22nd chromosome—a variant associated with serious medical and developmental issues.
You go online and learn that at least 1 in 4,000 people have this “22q11.2” microdeletion, but the true figure may be much higher. You read about 22q11.2 deletion syndrome’s 180-plus symptoms, including heart malformations, hypocalcemia, intellectual disability, autism and schizophrenia. You discover the bewildering treatment guidelines, the specialist clinics scattered throughout the country, and the vibrant patient advocacy movement spearheaded by the International 22q11.2 Foundation.
Yet the same pathogenic variant—a genetic change or “mutation” known to cause disease—has been found in people with much milder symptoms, and some who barely seem affected at all. No one can give you solid risk factors because our knowledge of 22q11.2 deletion syndrome (also known as DiGeorge syndrome) is riddled with “ascertainment bias”: only people with telltale problems are... see more
"Human Egg" by euthman is licensed under CC BY 2.0.
In late April, the National Academies held a three-day workshop on In Vitro Derived Human Gametes as a Reproductive Technology
. Experts from a broad range of fields commented on the fast-developing science, its potential applications in assisted reproduction, and its social implications. Despite a focus on the significant technical challenges that remain in developing these techniques and the notable inclusion of several critical voices, the overall...
By CGS Staff
On May 4, the Center for Genetics and Society contributed invited remarks about heritable gene editing at a comment session hosted by the National Council on Disability (NCD), the US federal agency that advises government and the private sector on disability policy. Some 17 speakers, including representatives of disability and patient advocacy organizations, scholars, medical researchers, and genetic counselors, weighed in for three minutes each on the topic “Germline editing, fetal medicine, and their impact on people with disabilities.”
By Ian Sample, The Guardian | 05.09.2023
The first UK baby created with DNA from three people has been born after doctors performed a groundbreaking IVF procedure that aims to prevent children from inheriting incurable diseases.
The technique, known as mitochondrial donation treatment (MDT), uses tissue from...
By Antonio Regalado, MIT Technology Review | 04.26.2023
Elizabeth Carr is head of commercial development at Genomic Prediction, a New Jersey genetic testing startup that says it will assess embryos created in IVF clinics for their future chance of common diseases and then rank them, so parents...