[New ways in interdisciplinarity: internal medicine meets human genetics : When frequent conditions become rare and rare conditions become frequent].
WHY IT MATTERS
If you have been diagnosed with a common cancer or disease, genetic testing may reveal you have a rare molecular subtype that qualifies you for a precision medicine treatment not available to patients with other genetic variations of the same disease.
Doctors are learning that common diseases are actually made up of many different rare subtypes when scientists look at their genetic makeup. By understanding the specific genetic changes in each person's disease, doctors can create targeted treatments that work better. This article uses chronic myeloid leukemia as an example—a treatment that targets one specific genetic change has turned a deadly disease into one people can live with for decades.
[New ways in interdisciplinarity: internal medicine meets human genetics : When frequent conditions become rare and rare conditions become frequent]. Abstract: Molecular findings have led to a deeper understanding of the pathophysiology of numerous diseases and now form the basis for targeted treatment. An example of this is chronic myeloid leukemia (CML). The identification of the BCR::ABL1 translocation enabled the development of specific tyrosine kinase inhibitors. While the median survival time used to be 4 years, CML is now often a chronic disease with a near-normal life expectancy thanks to targeted treatment; however, most tumor diseases are more complex at the molecular level. Advances in genome analysis enable increasingly more refined molecular characterization. Common tumor diseases are thus divided into increasingly smaller molecularly distinct segments, which become rarer as individual entities but can also be treated Authors: Möller et al. Journal: Innere Medizin (Heidelberg, Germany) MeSH: Humans, Internal Medicine, Rare Diseases, Precision Medicine, Human Genetics, Interdisciplinary Communication, Molecular Targeted Therapy, Leukemia, Myelogenous, Chronic, BCR-ABL Positive
ASK YOUR DOCTOR
Ask your doctor whether genetic or molecular testing has been done on your condition, and whether the results could guide treatment options tailored to your specific genetic profile.