SLIDE 7 6/24/2019 7 23andMe and other DTC genetic testing companies provide consumers with files of their raw genetic data. Up to 62% of consumers use third-party applications to interpret the raw data and provide health information not included in companies’ reports.1 A recent study suggests that 40% of genetic variations within DTC raw data sent for clinical confirmation are false positives.2 Common third party site: Promethease
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Direct To Consumer Direct To Consumer Direct To Consumer Direct To Consumer -
Raw Sequencing Data Raw Sequencing Data Raw Sequencing Data
- 1. Wang C, Cahill TJ, Parlato A2, Wertz B, Zhong Q, Cunningham TN, Cummings JJ. Consumer use and response to online
third-party raw DNA interpretation services. Mol Genet Genomic Med. 2018;6:35–43.
- 2. Tandy-Connor, S, Guiltinan, J, Krempely K et al. False-positive results released by direct-to-consumer genetic tests highlight
the importance of clinical confirmation testing for appropriate patient care. Genet Med 2018;1–7.
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https://www.nytimes.com/2018/09/15/opinion/sunday/23andme-ancestry-alzheimers-genetic-testing.html
A promethease report from 23andMe raw data said he had a pathogenic PSEN1 mutation The PSEN1 mutation is associated with an early-onset form of Alzheimer’s, and it is
- ften described as “100 percent penetrant”
Raw data used from Ancestry’s test did not identify the PSEN1 variant He eventually persuaded his doctor to order a clinical test of the PSEN1 gene. It was negative.
