The Need for Education and Clinical Best Practice Guidelines in the Era of Direct-to-Consumer Genomic Testing.

Madeleine Myers,Cinnamon Bloss

doi:10.2196/21787

Abstract

Many people share the results of their direct-to-consumer personal genomic testing (DTC-PGT) within the primary care setting, seeking interpretation of and counsel about the results. However, most primary care physicians (PCPs) are not trained to interpret and communicate about DTC-PGT results. New guidelines must be developed to help PCPs maximize the potential of emerging DTC-PGT technologies.

Highlights

The early 2000s saw unprecedented improvements in genotyping technology and analysis: the human genome sequence (Human Genome Project) and the cataloguing of human genetic variation (International HapMap Project) were completed. These discoveries led to large-scale, genome-wide association studies and the subsequent identification of genetic variants associated with the risk of common complex diseases [1,2,3]
These advances enabled the introduction of direct-to-consumer personal genomic testing (DTC-PGT), which refers to a type of genetic test a consumer can purchase and complete without a referral from a health care professional
A health and ancestry test by the company 23andMe costs US $199; the company claims over 10 million customers, most of whom are in the United States [5]

Summary

Introduction

The early 2000s saw unprecedented improvements in genotyping technology and analysis: the human genome sequence (Human Genome Project) and the cataloguing of human genetic variation (International HapMap Project) were completed. These advances enabled the introduction of direct-to-consumer personal genomic testing (DTC-PGT), which refers to a type of genetic test a consumer can purchase and complete without a referral from a health care professional. One study found that 40% of genetic variants reported in the DTC-PGT raw data were false positives—a high rate that would be unacceptable in clinical laboratories [8].

Results

Conclusion