The "Ending the Diagnostic Odyssey Act of 2019"

By Kevin E. Noonan --

On January 6, 2020, a bi-partisan coalition of Senators, including Senator Collins (R-ME), Doug Jones (D-AL), Martha McSally (R-AZ), and Bob Menendez (D-NJ), introduced the "Ending the Diagnostic Odyssey Act of 2019" to permit states to use Medicaid funding for whole genome sequencing (WGS) analysis in children having certain rate diseases.  The bill is a counterpart of H.R. 4144, introduced by Rep. Scott Peters (CA-52), joined by Rep. Shimkus and Mr. Vargas, on August 2, 2019.

The stated purpose of the bill is "[t]o enable States to better provide access to whole genome sequencing clinical services for certain undiagnosed children under the Medicaid program" and, of course, "for other purposes."  The bill purports to effectuate this legislative purpose by providing the States with an option to expressly achieve the stated objective.  This is to be done by amending Title XIX of the Social Security Act, codified at 42 U.S.C. ch.7, by inserting new section 1947, which states in pertinent part:

[A] State, at its option as a State plan amendment, may provide for medical assistance under this title to an eligible individual for purposes of providing the individual with whole genome sequencing clinical services.  Sec. 1947 (a)

Section (b) provides authorization for the state to pay a "health care provider" for WGS to an "eligible individual" (defined later in the bill as individuals who are "eligible for medical assistance under the State plan (or a waiver of such plan)" and are under 21 (or 20, 19, or 18 "as the state may choose" and has been "referred or admitted to an intensive care unit, or has been seen by at least 1 medical specialist, for a suspected genetic or undiagnosed disease; or is suspected by at least 1 medical specialist to have a neonatal- or pediatric- onset genetic disease") (Section 1947(f(1)).  During the first 12 fiscal year quarters (i.e., the first three fiscal years), the Federal percentage applicable to these payments would only provide 75% of the costs.  Part of the Federal support for this program includes planning grants (which shall also require a percentage of State matching funds as determined under section 1905(b) of the statute), and the State plan must establish procedures for referring any eligible individual to a health care provider qualified to provide WGS services (Sec. 1947(c)).

The bill also contains requirements for the States (Section 1947(d)) to provide within three years of initiation a program under these provisions of the Act reports to the Administrator of the Centers for Medicare & Medicaid Services and the Administrator of the Health Resources and Services Administration on the extent to which these service "reduce health disparities" (presumably disparities existing between those who can and those who cannot afford WGS services under existing law) and the converse, "the extent to which coverage under the State plan (or a waiver of such plan) impedes the use of genetic and genomic testing that may improve clinical outcomes for eligible individuals enrolled in the State plan (or under a waiver of such plan).  Health care providers (Section 1947(e)) must report to the State "on all applicable measures for determining the quality of such service."  Finally, "whole genome sequencing" is expressly defined as:

[T]he unbiased sequencing of all deoxyribonucleic acid bases in the genome of such individual and, if for the sole benefit of the individual, a biological parent of such individual for the purpose of determining whether one or more potentially disease-causing genetic variants are present in the genome of such individual or such biological parent; and . . . includes any analysis, interpretation, and data report derived from such sequencing.''  (Section 1947(f)(2)).

Senator Collins's Homepage defines the "genetic odyssey" in the bill's title as the delay children with rare genetic diseases endure, which the Senator says last 5-7 years on average.  The tragedy of this odyssey is that many of these children do not live more than 5 years, making the provisions of the bill a life-and-death proposition for them.  According to the website, "[t]here 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."  The Senator asserts that her bill is supported by over 100 patient advocacy groups, 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."

The bill is expected to be taken up in due course; H.R. 4144 has been referred to the House Committee on Energy and Commerce but the committee has taken no further action since August.

Comments

[Bruce Quinn]

A comparable bill in 2018 was H.R. 5026, Advancing Access to Personalized Medicine. The language in this Senate proposal has been altered in a small but very significant way. In 2018, H.R. 5026 provided whole genome sequencing (WGS) for Medicaid babies or children IN an intensive care unit "AND" was a specialist certifying they had a likely unknown genetic disease. This is reasonable; see Farnaes, WGS decreases infant morbidity in ICU's, 2018, NPJ Genomic Medicine 3:10.

A small change in the new language provides WGS testing for children in an ICU, "OR," with a likely genetic disease. The second clause in the new bill points to a broad range of children; it would include many children who need targeted, not WGS testing. There are also still gaps and undefined areas in whole exome/whole genome sequencing relative to targeted sequencing (e.g. Gotway, Clin Chem 66:199,2020).

[Kevin E Noonan]

Thanks Bruce for the insight. Do you think the mare targeted genetic analysis will be available for reimbursement using selective assessment of the data?