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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Direct-to-consumer genetic testing: good, bad or benign?
T Caulfield1, N M Ries, P N Ray
1Faculty of Law, School of Public Health, University of Alberta, Edmonton, Alberta, Canada. tcaulfld@law.ualberta.ca
Clinical Genetics
|December 9, 2009
Summary
Direct-to-consumer (DTC) genetic testing offers broad access but often provides limited predictive value. Further research and professional education are crucial for understanding and managing DTC genetic information responsibly.
Area of Science:
- Genomics
- Consumer Health
- Bioethics
Background:
- Direct-to-consumer (DTC) genetic tests are increasingly available commercially.
- Many DTC tests, particularly those using genome-wide association studies, offer limited predictive risk information.
- The rapid translation of genetic research into DTC products raises concerns about premature marketing and understanding of results.
Purpose of the Study:
- To examine consumer understanding and utilization of genetic risk information from DTC testing.
- To address the need for healthcare professional education regarding DTC genetic services.
- To explore regulatory approaches for DTC genetic testing companies.
Main Methods:
- Analysis of current market trends in DTC genetic testing.
- Review of ongoing large-scale studies on consumer engagement with genetic risk information.
- Examination of governmental and intersectoral initiatives for regulation and standard development.
Main Results:
- The predictive value of many DTC genetic tests is limited.
- Consumer comprehension and use of DTC genetic risk information require further investigation.
- Regulatory bodies and professional organizations are considering oversight for DTC genetic testing.
Conclusions:
- Understanding the benefits, risks, and limitations of DTC genetic testing is essential.
- Healthcare professional education is necessary to support patients using DTC services.
- Collaborative efforts are needed to establish standards for the responsible development and marketing of personalized genomic commerce.
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