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Updated: Jun 26, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Consumers' desire towards current and prospective reproductive genetic testing
Feighanne Hathaway1, Esther Burns, Harry Ostrer
1New York University School of Medicine, New York, NY 10016, USA. feighanne.hathaway@nyumc.org
Consumers want more prenatal genetic testing for diseases, but set limits on testing for conditions with later-life impacts or enhancements. This study explores patient preferences for genetic screening.
Area of Science:
- Genetics
- Reproductive Health
- Bioethics
Background:
- Advances in molecular genetics enable expanded prenatal detection of conditions and traits.
- Consumer utilization of these advanced genetic services remains largely unassessed.
- Understanding patient perspectives is crucial for guiding genetic service development.
Purpose of the Study:
- To gauge consumer opinions on prenatal genetic testing for diseases and enhancements.
- To identify specific conditions and traits for which individuals would opt for reproductive genetic testing.
- To explore the extent of consumer-desired genetic testing versus current offerings.
Main Methods:
- A survey was administered to patients before their initial genetic counseling session.
- Participants indicated preferences for prenatal genetic testing for various conditions and enhancements.
- Data were analyzed to determine the proportion of respondents favoring different types of genetic tests.
Main Results:
- A majority would choose prenatal genetic testing for conditions like mental retardation (75%), deafness (54%), blindness (56%), heart disease (52%), and cancer (51%).
- Testing preference decreased with age of condition onset: 49.3% for death by 5 years, 41.1% by 20 years, 24.9% by 40 years, and 19% by 50 years.
- Most respondents showed little interest in testing for enhancements, with only 13% favoring superior intelligence testing.
Conclusions:
- Consumers express a desire for broader reproductive genetic testing options than currently available.
- Patient choices indicate self-imposed limitations, prioritizing severe early-onset conditions over later-life diseases or enhancements.
- Findings suggest a need to align genetic service offerings with consumer-driven preferences while acknowledging ethical considerations.
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