PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

Today, PWSA (USA) announced its support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019, a bill to enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program, and for other purposes.

This bill will allow States to provide eligible individuals on Medicaid to receive whole genome sequencing clinical services. The bill would create a pilot program to cover 75 percent of the costs of an individual’s whole genome sequencing through Medicaid for the first three years, incentivizing states to cover the remaining 25 percent. Whole genome sequencing clinical services includes the unbiased sequencing of all deoxyribonucleic acid bases in the genome, and includes any analysis, interpretation, and data report derived from such sequencing.

The diagnostic odyssey is a succession of steps, starting from the onset of symptoms to diagnosis of a genetic disease. Rare diseases often go undiagnosed because of limited awareness of the disease; delays in diagnosis can lead to inappropriate disease management as well as disease progression.

For a child with Prader-Willi syndrome (PWS), an accurate and timely diagnosis can be the key to a longer, healthier life."

Stacy Ward, PWSA (USA) Director of Family & Medical Support

A DNA methylation analysis detects nearly all cases of PWS. It also detects Angelman syndrome which involves the same region of chromosome 15. There are 3 major genetic changes that can cause PWS (sometimes called molecular class or genetic subtypes), and all 3 types will have a positive DNA methylation analysis for PWS.

PWSA (USA) is a 501(c)(3) organization and is the only national organization dedicated to improving the lives of all person’s afflicted with Prader-Willi syndrome and supporting them at every stage of life through research, education, support, and advocacy. Headquartered in Sarasota, Florida, the organization was formed in 1975 to provide a vehicle of communication for parents, professionals, and other interested citizens. Hospitals, physicians, organizations, and parents from all over the world consult with PWSA (USA) regarding medical emergencies and other PWS-related issues daily.

PWSA (USA) supports robust, well-funded genetic screening programs in every state, and encourages state lawmakers to prioritize the early detection of rare genetic diseases. PWSA (USA) encourages every state to adopt the Uniform Newborn Screening Panel developed by the ACHDNC and robust State Medicaid programs that reduce the time spent searching for a diagnosis.

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