Briefing on Personalized Medicine

Personalized medicine is an evolving field where physicians use diagnostic tests to determine which medical treatments will work best for each patient. By combining data from tests with an individual’s medical history, circumstances, and values, healthcare providers can develop targeted treatments and prevention plans.

The new Congressional Personalized Medicine Caucus (PMC), a bipartisan effort to promote personalized medicine, has been established to engage Members of Congress in a constructive dialog on policy solutions that will develop the potential for this cutting-edge approach to healthcare.

According to Edward Abrahams PhD President, PMC, “PMC looks forward to supporting the caucus as it seeks to accelerate progress toward this new and promising era in healthcare.”

The PMC was formed by Senators Tim Scott (R-SC), Kyrsten Sinema (D-AZ) along with Representatives Eric Swalwell (D-CA) and Tom Emmer (R-MN).

Challenges with existing regulatory and reimbursement paradigms however have slowed the adoption of many new personalized medicine technologies which can include economic sequencing tools, targeted therapies, and gene and cell-based therapies.

It is thought by many that the U.S designed the governmental regulatory and reimbursement systems in an era of one size fits all medicine. This has caused the U.S to sometimes have difficulty advancing and adopting the more sophisticated diagnostics and customized treatments which can affect the use of personalized medicine.

On February 26, 2020, a briefing held on Capitol Hill organized by PMC, discussed “Technologies Advancing the Future of Personalized Medicine”.

Taking a part in a panel discussion moderated by Cynthia a. Bens, Senior Vice President, Public Policy, PMC, included:

 

Peter Halliburton described the grave situation when his son Carter was diagnosed with a rare genetic form of epilepsy in May 2017. At birth, everything seemed normal but at 4-6 months, the baby began to have eye issues. The parents took the baby for many tests to find out what was wrong. Finally after much searching and talking to experts, it was determined Carter had a rare genetic disorder called SynGAP 1 Syndrome caused by a mutation on the SynGAP1 gene.

The SYNGAP1 gene is located on Chromosome 6 and is responsible for producing the Syngap1 protein. This protein acts as a regulator in the synapse where neurons communicate with each other.

A mutation of the gene can lead to the gene to produce less Syngap1 protein. Without the right amount of the Syngap1 protein, it makes it difficult for neurons to communicate effectively which can lead to many neurological issues seen in these patients.

As explained by Carter’s father, actively involved in the SynGAP Research Fund, “Currently there is no cure or specific treatment for SynGAP1. About 70 to 80 percent of children with SynGAP1 also have some type of epilepsy plus the gene has also been linked to autism. Hopefully, researchers using personalized medicine will find the way for genetic testing to help make precision diagnoses possible that will lead to effective treatments for rare diseases.

 

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