Last year was the 10th anniversary of the completion of the Human Genome Project (HGP). We are in exciting times when monumental strides have been made in understanding human genetics.
The HGP has taught us that the human DNA consists of 3.2 billion nucleotide base pairs, and the human genome sequence is 99.9% same in all people.
In the 1990’s, there were genetics tests for approximately 100 diseases and now, there is testing for almost 3000 diseases. Whole genome sequencing is available for less than $10,000, and anyone can order genetic testing online for less than $100.
With this direct-to-consumer genetic testing (DTCGT) readily accessible to anyone, we need to look at: What is DTCGT? What does it tell us? What does this mean for the consumer and their primary care physician?
DTCGT is a commercially available screening of a person’s DNA/genome for genetic variations that have reported associations with diseases or risks of diseases. In May 2010, an attempt was made by Pathway Genomics to market the screening at Walgreens pharmacies across the nation; however, this was suspended after a statement by the Federal Drug Administration.