Skip to main content
Premium Trial:

Request an Annual Quote

US Senators Introduce Law to Enable WGS Testing on Children With Rare Diseases

NEW YORK – US Senators Bob Menendez (D-New Jersey), Doug Jones (D-Alabama), Martha McSally (R-Arizona), and Susan Collins (R-Maine) have introduced legislation in the Senate intended to help children with rare diseases receive testing with whole-genome sequencing in hopes of finding a cause for their conditions.

The legislation, called the Ending the Diagnostic Odyssey Act, would allow states to conduct WGS testing services for children on Medicaid with a disease suspected to have a genetic cause.  Under the three-year pilot program, 75 percent of the cost of the testing would be borne by federal medical assistance. 

"Whole-genome sequencing has been a groundbreaking development for Americans with undiagnosed conditions and rare diseases," Jones said in a statement. "Expanding children's access to these services will save lives and provide hope to families through improved diagnostic and treatment options."

Menendez noted that this model of allowing children on Medicaid to access WGS testing already exists in his state of New Jersey, and that this bill will nationalize it as "an additional tool to get to a diagnosis and hopefully treatment, a little quicker."

The Ending the Diagnostic Odyssey Act is supported by more than 100 patient advocacy organizations, including the Genetic Alliance, the Parent Project Muscular Dystrophy, Tuberous Sclerosis Alliance, Alström Syndrome International, Epilepsy Foundation, and the Asthma and Allergy Foundation of America, Collins' office said.

The Scan

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.

Study Looks at Parent Uncertainties After Children's Severe Combined Immunodeficiency Diagnoses

A qualitative study in EJHG looks at personal, practical, scientific, and existential uncertainties in parents as their children go through SCID diagnoses, treatment, and post-treatment stages.

Antimicrobial Resistance Study Highlights Key Protein Domains

By screening diverse versions of an outer membrane porin protein in Vibrio cholerae, researchers in PLOS Genetics flagged protein domain regions influencing antimicrobial resistance.

Latent HIV Found in White Blood Cells of Individuals on Long-Term Treatments

Researchers in Nature Microbiology find HIV genetic material in monocyte white blood cells and in macrophages that differentiated from them in individuals on HIV-suppressive treatment.