I don’t think I’ve ever (in 20+ years of writing) reprinted a press release verbatim. Often I don’t even get to the end of them because of all the PR speak. However, today the Mayo Clinic sent out this list. It is concise, compelling and I can’t think of any way to improve it. The 10 ways the human genome map can affect diagnosis and treatment is an important reminder that we have come a long way in a short time, and that healthcare in the United States is not all about arguing about who gets care and who pays for it.
In case you had any doubts that the $3.8 billion investment in the genome mapping project was worth it, consider these 10 advancements compiled by the Mayo Clinic.
1. It’s already influenced drug labels and uses for some medicines.
The U.S. Food and Drug Administration has changed medication labeling, doses and uses based on genomic research, including a key drug for breast cancer.
2. It’s making sure your doctor is giving you the right drug at the right dose.
Not everyone can tolerate or metabolize the same drugs; genomics shows some medications have no effect or might hurt rather than help certain individuals. For example, one person in ten cannot tolerate the standard treatment for irritable bowel disease and needs a different drug.
3. It makes developing new medical tests faster and better.
It has already resulted in several new tests to diagnose and treat disease, and to avoid some needless therapies, including a treatment test for mood disorders.
4. It may be helping you prevent an illness.
It can tell you that you have a greater susceptibility to some conditions, so you can change your behavior to avoid them. For example, those at risk for developing diabetes can make lifestyle changes to lower their risk.
5. It may be helping you or a family member fight a treatment-resistant disease.
A genomic scan may reveal a genetic alteration that indicates an alternative, successful treatment. In one case, a mutation led to use of a kidney cancer drug to treat breast cancer.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
6. It may help identify an undiagnosed disease. Misdiagnosis sometimes happens with many gene-based conditions.
Genomic analysis may pinpoint a diagnosis after months or years of confusion. For example, a person’s genetic inability to produce a certain protein may mimic symptoms of a disease.
7. It may help you pick the right foods for your digestive system.
Nutrigenomics can help match your diet to your genome and help with digestive diseases, such as celiac or Crohn’s disease.
8. It may help in tailoring your cancer therapy.
Your genome may not respond to certain chemotherapies, but cancer tumors also have their own modified genomes, which also need to be considered in picking a treatment. Perhaps two drugs in combination may be the solution.
9. It may help in family health decisions, including family planning.
Genomic analysis may reveal familial conditions you want to consider before having children. In some cases the two genomes may increase the risk of certain disorders.
10. Your genomic information in your medical record will help doctors diagnose and treat you in the future.
Your individual genomic signature can be as important as your blood type in determining treatment or care decisions.
