False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden.

ABSTRACT: 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 ~5 "pathogenic" alleles reported due to wrongly reported genotypes if using a 23andMe genotyping microarray. We also found that the number of wrongly classified "pathog

SUBMITTER: Liu X 

PROVIDER: S-EPMC7712761 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature