Statements on Introduced Bills and Joint Resolution

Floor Speech

BREAK IN TRANSCRIPT

Ms. COLLINS. Mr. President, I rise today to introduce the ``Ending the Diagnostic Odyssey Act.'' This legislation gives States the option of providing whole genome sequencing (WGS) clinical services through edicaid for children with a disease that is suspected to have a genetic cause, at an enhanced Federal matching rate for three years. I am pleased to be joined by Senators Kelly and Menendez.

Children with rare diseases will spend on average five to seven years on a diagnostic odyssey, and 30 percent of those children will not survive beyond the age of five years old. The average patient sees seven different physicians in that time. The wait to find a cause--never mind a cure--can be excruciating. Parents try to project a calm and reassuring presence for their child while facing a whirlwind of doctor appointments, hospital visits, and unanswered questions.

Undeniably, we are making progress in both accelerating research funding for rare diseases as well as in the development of diagnostics. In 2014, the National Institutes of Health (NIH) launched a program called the Undiagnosed Disease Network (UDN). In its first 20 months, the UDN accepted 601 participants undiagnosed by traditional medical practices. Of those who completed their UDN evaluation during this time, 35% were given a diagnosis. Many of these diagnoses were rare genetic diseases including 31 previously unknown syndromes.

In May 2019, the Director of the National Institutes of Health, Dr. Francis Collins, wrote a blog post on how whole genome sequencing-- combined with artificial intelligence (AI)--can now be used to diagnose genetic diseases in seriously ill babies in fewer than 24 hours. Dr. Collins writes ``I would submit that there is no other technology in the history of planet Earth that has experienced this degree of progress in speed and affordability.''

For parents of children with an undiagnosed illness, answers cannot come soon enough. There are approximately 7,000 rare diseases known today. Approximately 80 percent of rare diseases are genetic, and about one-half of all rare diseases affect children. For example, Alstrom syndrome is an extremely rare and complex genetic disorder. Approximately 1200 affected individuals have been identified worldwide, which makes a obtaining a correct diagnosis challenging. Characteristics of Alstrom syndrome include vision disturbances, sensorineural hearing impairment, cardiomyopathy, obesity, kidney dysfunction, and diabetes. Robin Marshall, Executive Director of the Alstrom Syndrome International, located in Mount Desert Island, Maine, has said that ``Whole Genome Sequencing has changed the lives of those we represent by enabling earlier and more accurate diagnosis, fostering more timely and appropriate medical care, and unlocking a host of social services to combat the educational and psycho-social complications that our children confront.''

By giving states an incentive to provide whole genome sequencing for eligible children through Medicaid, my legislation will ensure that more children and their families can obtain the right diagnosis and treatment from the start. The ``Ending the Diagnostic Odyssey Act'' has the support of more than one hundred patient advocacy organizations, including Alstrom Syndrome International, the Genetic Alliance, the Personalized Medicine Coalition, and many others. I urge my colleagues to support this legislation. ______

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