US Senate Considers Legislation for Kids’ Rare Disease Whole Genome Sequencing

By Jodee Redmond from In The Cloud Copy

Four United States senators have introduced a new law that, if passed, will assist children living with rare disease to receive tests with whole genome sequencing (WGS). These tests will be used primarily to help diagnose rare diseases and identify relevant mutations.

Senators Martha McSally (R-Arizona), Susan Collins (R-Maine), Bob Menendez (D-New Jersey), and Doug Jones (D-Alabama) were responsible for bringing the proposed bill to the Senate. The legislation, which is entitled Ending the Diagnostic Odyssey Act, would allow states to run WGS tests for children on Medicaid in cases where the disease is likely to have a genetic component.

What is Whole Genome Sequencing?

Genome sequencing is a specific type of test; it allows doctors to access all three billion letters of a patient’s complete genetic code (genome). Some changes in the genetic code can affect a patient’s health. Finding them can be very useful when trying to diagnose and treat illnesses.

WGS tests are performed by a doctor to determine a patient’s genetic makeup. The results show his or her entire DNA sequencing. With this information in hand, physicians can make more informed diagnoses and better decisions about treatment with their patients.

Not every variation of a person’s genetic code will result in a medical diagnosis of an illness. Each person has some variants on their genomes, and they make up part of the variety of what makes us human. Disease-causing variants are those that can affect a person’s health.

Since genome sequencing looks at all of a patient’s genes, there are times when disease-causing variants are isolated that don’t relate to the patient’s main group of symptoms. This doesn’t mean, however, that they don’t have a bearing on his or her health. The results can be reviewed with a qualified genetic counselor or a physician.

Pilot Program Part of Proposed Law

The new law calls for a three-year pilot program. Under its provisions, three-quarters of the testing costs would be covered by the federal medical assistance program.

Senator Doug Jones stated recently that WGS has been a “groundbreaking development for people in the US living with rare diseases and undiagnosed medical conditions.”

He went on to say that giving more kids access to this testing will save lives. Senator Jones also emphasized that affected families would also have the benefit of improved options for diagnosis and treatment.

Senator Bob Menendez remarked that including children under the age of 18 on Medicaid to get WGS tests is already in place in his home state of New Jersey. He said that the proposed bill will allow other children across the US to have the same opportunities. Senator Menendez said he hopes rare disease patients will be able to get diagnosed and treated more quickly.

Ending the Diagnosis Odyssey Act has Support from Several Organizations

 The new law has support from many patient advocacy groups. Some examples include the following, according to Senator Susan Collins’ office: Tuberous Sclerosis Alliance, the Asthma and Allergy Foundation of America, the Genetic Alliance, the Epilepsy Foundation, and the Parent Project Muscular Dystrophy.

Check out the original study here.


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