Genomic medicine is affecting health care by dramatically changing the prevention, diagnosis and treatment of diseases.
It does so by using molecular information about an individual to tailor their treatment and health care. Genomic medicine isn't a new idea; in fact, it's been around for a while, but under pseudonyms such as personalized medicine, individualized medicine or, more recently, precision medicine, a term used by President Obama in his early 2015 State of the Union Address when he spoke about the federal government's precision medicine initiative.
With the following video segments led by instructor Jeanette McCarthy, Ph.D., you'll learn about some of the exciting applications for genomic medicine in the clinic, as well as some of the hurdles we face in practicing genomic medicine. You'll also get a "crystal ball" look into what's on the horizon.
But before we get in that, here's a primer on the human genome to put this into context.
1. Human Genetics 101 Primer?
DNA replication is happening all the time. During this process, some mistakes are made; these mistakes we call variations.
2 Precision Medicine in the Clinic: Pre-Conception
Now that you have the vocabulary down, this will help you understand some of these applications of precision medicine in the clinic today. For example, precision medicine is being used across the lifespan—from preconception all the way through adulthood. We've been able to do some genetic testing in adults, but as we step back in time toward preconception, we're moving away from a diagnostic state to one where we can screen and predict disease.
3. Genomic Medicine in the Clinic: Prenatal
4. Genomic Medicine in the Clinic: Diagnostic Sequencing of Rare Idiopathic Diseases
"By the time Nic Volker turned 6, he had undergone 160 surgeries. Dr. Howard Jacob had Nic's genome sequenced, and they found a mutation gene responsible for a rare disease. When Nic underwent therapy, he was cured."
5. Genomic Medicine in the Clinic: Adulthood and Complex Diseases
6. Pharmacogenomics: Genetics and Drug Efficacy
So now that we've seen how genomic medicine can be used at each stage of the lifespan, how does this translate to a person's response to drugs or medications? Pharmacogenomics studies just that. The field combines pharmacology (the science of drugs) and genomics to predict how patients will respond to a drug based on their unique genetic makeup.
"Adverse drug reactions are a leading cause of death in hospitalized patients in the U.S. What if you could genotype somebody and determine if he or she is likely to develop an ADR?"
7. Targeted Cancer Treatment
Let's put this into practice. How does genomic medicine play into treating and fighting cancer cells?
8. Hurdles to Practicing Genomic Medicine
This all sounds great, right? So then why isn't genomic medicine being used more often in the clinic? Here are some hurdles in getting genomic medicine to be standard practice.
9. What's on the Horizon
Learn about what's being developed and how they can be utilized in the clinic.
Genomic medicine isn't just for practitioners to incorporate into their practice. Anyone can benefit from understanding this "state of the science" so that you can be your own patient advocate and help keep yourself healthy. You'll also be equipped to be an advocate if someone in your family falls ill.
Jeanette McCarthy, M.P.H., Ph.D., earned her Ph.D. from UC Berkeley and is currently an Adjunct Associate Professor of Medicine at Duke University and a visiting faculty member in the Division of Medical Genetics at UCSF. Dr. McCarthy developed and taught UCSF's first MOOC for healthcare provider education in genomic medicine, and also developed and teaches a genomic medicine course at UC Berkeley. Dr. McCarthy is editor-in-chief of a new patient-centered magazine called Genome, which aims to educate and inform patients in the area of genomic medicine. She works with academic centers, healthcare institutes and industry partners to help fill the education gap in genomic and precision medicine.