[Congressional Record Volume 165, Number 206 (Thursday, December 19, 2019)]
[Senate]
[Page S7211]
From the Congressional Record Online through the Government Publishing Office [www.gpo.gov]

      By Ms. COLLINS (for herself, Mr. Jones, Ms. McSally, and Mr. 
        Menendez):
  S. 3116. 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; to the Committee on 
Finance.
  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 WSG clinical services through 
Medicaid for children with a disease that is suspected to have a 
genetic cause, at an enhanced Federal matching rate for 3 years. I am 
pleased to be joined by Senators Jones, McSally, and Menendez.
  Children with rare diseases will spend on average 5 to 7 years on 
diagnostic odyssey, and 30 percent of those children will not survive 
beyond the age of 5 years old. The average patient sees seven different 
physicians in that time. The wait to find a cause--nevermind 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 percent were given a diagnosis. Many of these diagnoses were 
rare genetic diseases, including 31 previously unknown syndromes.
  In May, 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 1,200 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 Islanas, ME, 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 the start. The Ending the Diagnostic Odyssey Act has the 
support of more than 100 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.
                                 ______