As the cost of genomic sequencing has decreased dramatically, researchers and doctors alike are hopeful that the tools of human genetics will raise standards for patient care. When a patient’s specific genetic code is known, doctors can select the appropriate treatment for that specific mutation and thus improve prognosis.
“The genetic definition of a disease gives you a starting point and an approach” said Dr. Mark Fishman, president of Novartis Institutes for BioMedical Research. Human genetics can inform everything from treatment of neurodegenerative disorders to psychiatric conditions. Researchers are currently looking at a more complex picture of how genetics can determine disease course and treatment response.
“We are now understanding the complex effects of not just one gene,” said Dr. Scott Rauch, president and psychiatrist in chief at McLean Hospital, “but of many genes with modest effects.” Since most conditions cannot be traced to a single mutation in a given gene, understanding the interactions of different genes is a key component to treatment.
Dr. Dennis Selkoe, co-director of the Ann Romney Center for Neurologic Diseases at BWH, emphasized the benefits of using personalized medicine in Alzheimer’s Disease in the future. Doctors would create a “risk assessment profile” where patients will be scored on multiple axes including genetics and various biomarkers of disease. “We’ll create a numerical score that will tell me what the risk is, and then we’ll choose from several therapeutics,” said Selkoe. Treatments based on such assessments will offer unique advantages that can provide hope for patients who would otherwise have limited options.
Lea is a PhD student at MIT studying molecular and cellular neuroscience. She is interested in translational disease research and is currently examining the role of neuronal identity in Huntington's Disease. Lea graduated from Harvard with an AB in neurobiology and has interned with biotech startups in neuropharmacology and biomedical engineering.
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