Journal
JOURNAL OF PERSONALIZED MEDICINE
Volume 10, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/jpm10040187
Keywords
direct to consumer genomics; microarray; false alarm; genotyping error; variant classification error
Funding
- NHI/NHGRI [1R03HG011075]
Ask authors/readers for more resources
We have entered an era of direct-to-consumer (DTC) genomics. Patients have relayed many success stories of DTC genomics about finding causal mutations of genetic diseases before showing any symptoms and taking precautions. However, consumers may also take unnecessary medical actions based on false alarms of pathogenic alleles. The severity of this problem is not well known. Using publicly available data, we compared DTC microarray genotyping data with deep-sequencing data of 5 individuals and manually checked each inconsistently reported single nucleotide variants (SNVs). We estimated that, on average, a person would have similar to 5 pathogenic alleles reported due to wrongly reported genotypes if using a 23andMe genotyping microarray. We also found that the number of wrongly classified pathogenic alleles per person is at least as significant as those due to wrongly reported genotypes. We show that the scale of the false alarm problem could be large enough that the medical costs will become a burden to public health.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available