Understanding Direct-to-Consumer Genetic Testing
Direct-to-Consumer Genetic Testing
Direct-to-consumer (DTC) genetic testing has become increasingly popular in recent years. There are hundreds of companies like Ancestry.com and 23andMe, marketing genetic ‘insight’ into athletic performance, ancestry, child talent – or even to help identify your true love …genetically.
It is interesting that DTC genetic testing has been increasingly sought out, despite well-published concerns from health professional bodies, governments and patient advocates questioning the appropriateness of providing test results without clinical management or counselling from a genetic health professional.
Equally these groups have raised concerns around privacy and security of consumers’ data – and how that data is used by DTC companies (1, 2).
Clinical-grade genetic testing in Australia
In Australia, clinical genetic testing is undertaken by professionals in a NATA ‘accredited’ laboratory. Accredited laboratories adhere to strict quality control standards imposed by the Australian Government’s National Pathology Accreditation Advisory Council (NPACC) and ‘NATA’ (the National Association of Testing Authorities), is the independent agency that assesses laboratories against these standards.
This is just like any other industry that requires registration to ensure professional accountability and public safety – such as builders, doctors or air traffic controllers. Despite attempts both locally and overseas, DTC genetic testing services remain difficult to regulate to ensure accuracy, quality and civic responsibility
A recently published study in Genetics in Medicine (3) has found inaccuracies in data from DTC genetic testing —directly affecting consumers. Stephany Tandy-Connor and her colleagues reviewed the results of people who were referred to their accredited diagnostic laboratory in California, to confirm genetic changes identified by DTC genetic testing. Their study found an alarming 40% false positive rate in the DTC data, and that the DTCs had incorrectly classified benign genetic variants as ‘increased risk’.
Let’s put this in perspective
These people sent their samples off for DTC genetic testing, and get their raw data and results back indicating ‘mutations’, mostly in cancer-associated genes. Alarmed, they went to their doctor, who sought confirmation from an accredited laboratory: 2 in every 5 of these people had received reports falsely suggesting they had a disease-causing genetic change; and 1 in every 5 people had received reports falsely suggesting an ‘increased risk’ of disease.
The moral of this story: genetic testing through a DTC company should be considered very carefully before you send off your samples.
What should you consider?
- What do I really know about this DTC genetic testing company?
- How will the DTC genetic testing company control and manage my personal data and information?
- What might the results of the DTC genetic test tell me?
- Do I want to know?
- How do I found out what the results mean?
- Are the results reliable?
- What are the implications of the DTC genetic testing results for me? My family?
Genomic technologies are revolutionising medical practice in Australia and have the potential to help people with rare diseases and cancers access life-changing therapy or resolve their long diagnostic odyssey. In my opinion, genetic testing is best left in the hands of registered professionals. Like building. Or air-traffic control.
References
1 – Phillips, A. Only a click away — DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape. Applied and Translational Genomics; 2016 https://www.ncbi.nlm.nih.gov/pubmed/27047755
2 – Niemiec, E. and Howard, HC. Ethical issues in consumer genome sequencing – use of consumers’ samples and data. Applied and Translational Genomics; 2016 https://www.ncbi.nlm.nih.gov/pubmed/27047756
3 – Tandy–Connor, S. Tippin Davis, B. et al; False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genetics in Medicine; 22 March 2018 https://www.ncbi.nlm.nih.gov/pubmed/29565420
Further support and information from the National Health and Medical Research Council
Understanding Direct to Consumer Genetic Testing: An Information Resource for Consumers