An ALS Patient and Researcher Makes the Case for Wider Use of Polygenic Analysis

​According to a story from forum.facmedicine.com, Dr. Rahul Desikan has been dedicated to the study and research of neurological disease such as amyotrophic lateral sclerosis (ALS). Then, in a cruel twist of irony, Dr. Desikan was diagnosed with the disease himself about a year ago. His disease is progressing rapidly, and Dr. Desikan wished that he had been able to use a critical tool called polygenic analysis that could have allowed him to prepare.

About Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic lateral sclerosis, otherwise known as Lou Gehrig’s disease, is a rare, degenerative disease that causes the death of nerve cells associated with the voluntary muscles. Little is known about the origins of amyotrophic lateral sclerosis, with no definitive cause in about 95 percent of cases. The remaining five percent appear to inherit the disease from their parents. Symptoms initially include loss of coordination, muscle weakness and atrophy, muscle stiffness and cramping, and trouble speaking, breathing, or swallowing. These symptoms worsen steadily over time; most patients die because of respiratory complications. Treatment is mostly symptomatic and the medication riluzole can prolong life. Life expectancy after diagnosis ranges from two to four years, but some patients can survive for substantially longer. To learn more about amyotrophic lateral sclerosis, click here.

What is Polygenic Analysis?

Polygenic analysis is not your average run of the mill genetic analysis like 23andMe or any of these other home genetic testing kits. It goes into much greater detail, combining elements such as epidemiology, genetic data, statistical computer models, and advanced statistics. While polygenic analysis is not meant to be a diagnostic tool, it can predict the risk a user has for developing a certain disease or medical problem.

Dr. Desikan ran a polygenic analysis on himself after his diagnosis and found that he carried several genetic variants associated with ALS and the immune system. He has used this information to test a number of immune system therapies in a bid to slow the progression of his disease.

However, these tests could be useful for the general public as well because of their use in measuring disease risk. It could allow people to make health decisions based on their results; in the future, as these tests become more refined, they could become even more effective. 


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