Targeted testing — when evidence-based — has tremendous potential to help improve clinical outcomes, but it is critical to balance use and cost.
We hear much about the promise of genetics as a way to personalize medicine and improve outcomes for people with, or at risk for, serious illnesses. It’s true that our understanding of genetics and the role of things like biomarkers and gene variability have given us new insights into how certain conditions present themselves — and how people respond to treatments differently. Precision medicine guided by genetic testing can be an indispensable tool in identifying the most effective treatment for conditions where therapies are increasingly targeted to specific gene defects or mutations. However, there are many conditions — even those with a known genetic component — where the clinical evidence has repeatedly failed to show a cost-effective benefit in using broad-based genetic testing to guide treatment options.
Where precision medicine can make an impact
Gene mutations — somatic or germline — can lead to someone developing, or having a predisposition to develop diseases like cancer, as well as inherited conditions, including cystic fibrosis, spinal muscular atrophy, Duchenne muscular dystrophy, hereditary angioedema, and growth hormone disorders. Genetic testing can help guide targeted therapy in such conditions and also identify faulty genes that can be treated with gene therapy. This is not only supported by robust clinical evidence, but is actually necessary to ensure that the selected treatment will be effective and efficacious for that person.
Since therapies for these conditions are generally very expensive, administering them to a patient for whom a treatment may not work is wasteful. It can also result in poor patient outcomes, including adverse events, side effects, or worsening or progression of their condition — all of which could lead to even greater waste.