Michelle Whirl-Carrillo, Director of PharmGKB
0:00 PharmGKB - everything pharmacogenomics
6:00 Success stories
9:43 Why no professional society? But there is CPIC - a consortium developing guidelines
18:32 When should one do testing?
22:05 Might testing be required at some point?
27:00 PGx deserves more spotlight
One of the underrated but true successes of precision medicine has been pharmacogenomics. Beginning in the ’90s with the approval of the drug Herceptin for HER2 positive breast cancer, tailoring drugs to genotype has been one of the less controversial areas of our field and will only continue to build on the early promise of sequencing the human genome.
Today we talk Michelle Whirl-Carrillo, Director of PharmGKB, a one-stop go-to for pharmacogenomics data that has been funded by the NIH since 2000.
"Very quickly we found out people were interested in all things pharmacogenomics. They wanted to come to one place to find out everything about the field,” Michelle says at the beginning of today’s show.
But Michelle and her group have taken things much further than curation over the years. Though there is no professional society in the field (why not!?), they have founded a consortium called CPIC to come up with guidelines for clinicians. These guidelines offer comprehensive recommendations for what to do when a doctor and patient have genotype information. But they do not recommend when to test—which is perhaps the all-important question in this field.
We talk with Michelle about leading healthcare institutions around the country that are preemptively testing patients and about genotype success stories. With data this powerful, will testing be required at some point at a government level?
“Pharmacogenomics is some of the lowest hanging fruit in our area. There is no stigma attached. A lot of genomics and medicine can be scary. But I’ve never heard someone say, 'warfarin is not for me, I need to take a different anticoagulant, I’m so ashamed, or I don’t want anyone to know.’ Patients would prefer to know if another medication might work better for them or if they might get sick from medication,” says Michelle.