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Updated: Nov 8, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
May direct-to-consumer genetic testing have an impact on general practitioners' daily practice? a cross-sectional
Christine Cohidon1, Regula Cardinaux2, Jacques Cornuz2
1Center for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland. christine.cohidon@unisante.ch.
Background:
Direct-to-consumer genetic testing (DTCGT) offers individuals access to information on their probable risks of suffering from a wide range of chronic diseases. General practitioners (GPs) will probably play a major role in supporting its use, but patients' perception of DTCGT remain unclear. This study aimed to describe those attitudes and expectations and how they might affect GPs' daily practices.
Methods:
In 2018-2019, a study related to the use of DTCGT for preventive care in general medicine was conducted among patients in Switzerland's French-speaking areas. Data were collected in the waiting room using a self-administrated questionnaire about patients' interest in DTCGT and what their attitudes might be if testing revealed an elevated risk of diabetes, colorectal cancer, or Alzheimer's disease.
Results:
About 40% of the 929 participating (participation rate about 80%) patients had heard about DTCGT and, once the test had been explained, 43% reported that they would be interested in being tested. If that testing suggested an elevated risk of disease, the majority of patients reported that they would change their lifestyle (65%-81%, depending on the disease), request more examinations (63%-77%), and expect changes in their GP's follow-up (48%-59%). Personal characteristics such as sex, age, urbanity, marital status, and perceived health were factors predictive of patients' attitudes.
Conclusion:
Findings indicated that the generalization of DTCGT might affect GPs' daily practices in terms of workload and knowledge about this approach. However, this result must be qualified by the fact that it is based on hypothetical situations.
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