Evaluation of a Tay-Sachs screening program on a college campus

Area of Science:

• Medical Genetics
• Public Health Screening

Background:

• Tay-Sachs disease is a rare, inherited neurodegenerative disorder.
• Genetic screening programs aim to identify carriers and inform reproductive choices.

Purpose of the Study:

• To evaluate a Tay-Sachs disease carrier screening program among university students.
• To assess knowledge of Tay-Sachs disease, carrier status implications, and family planning preferences.

Main Methods:

• A screening program was conducted on a university student population.
• Questionnaires were administered to screened individuals and a target unscreened population.
• Carrier status and knowledge levels were assessed.

Main Results:

• Ten Tay-Sachs disease carriers were identified out of 390 screened individuals.
• Both screened and unscreened students demonstrated moderate knowledge of the disease but lacked understanding of carrier implications.
• Family planning preferences varied, with a tendency towards adoption, artificial insemination, or pregnancy avoidance over abortion for carriers.

Conclusions:

• The screening identified carriers within the university population.
• There is a significant need for improved education on the genetic implications of Tay-Sachs disease carrier status.
• Knowledge gaps impact reproductive decision-making and family planning strategies.