Related Experiment Video
Updated: Dec 9, 2025
09:30
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
3.4K
Direct-to-consumer genetic testing with third party interpretation: beware of spurious results
Rachel Horton1,2, Gillian Crawford1,2, Lindsey Freeman3
1Clinical Ethics and Law at Southampton (CELS), Faculty of Medicine, University of Southampton, Southampton, U.K.
Emerging Topics in Life Sciences
|September 11, 2020
Summary
Direct-to-consumer (DTC) genetic tests can yield inaccurate disease risk information. Patients seeking medical intervention based on these results may receive spurious findings, highlighting potential risks of DTC genetic testing.
Area of Science:
- Genetics
- Bioinformatics
- Medical Diagnostics
Background:
- Direct-to-consumer (DTC) genetic tests offer insights into ancestry, health, and talents.
- The quality and interpretation of DTC genetic test data can be unreliable.
- Third-party interpretation websites further complicate the use of raw DTC genetic data.
Purpose of the Study:
- To investigate the clinical implications of DTC genetic test results interpreted by third-party services.
- To highlight the risks of inaccurate genetic variant detection from DTC tests.
- To assess the impact on publicly funded healthcare services.
Main Methods:
- Analysis of two composite cases from UK genetics centres.
- Review of patient-presented raw data from DTC genetic tests and third-party interpretations.
- Clinical validation of reported disease-associated variants.
Main Results:
- Patients presented to NHS clinical services with spurious 'pathogenic results' from DTC genetic tests.
- Third-party interpretation of DTC raw data led to false positive variant findings.
- Clinical validation confirmed the absence of reported disease-associated variants.
Conclusions:
- DTC genetic tests carry a significant risk of false positives and false negatives.
- The use of third-party interpretation services can lead to clinically actionable misinformation.
- Publicly funded healthcare systems may face increased burdens investigating dubious DTC genetic results.
