§2.Clarifying that whole genome and whole exome sequencing for children with certain medical needs is covered under the Medicaid program
This section requires states, effective January 1, 2027, to cover whole genome sequencing and whole exome sequencing (i.e., sequencing of an individual's—or first-degree relative's—DNA to identify potentially disease-causing variants, including analysis and reporting) under the Medicaid early and periodic screening, diagnostic, and treatment (EPSDT) benefit (42 U.S.C. 1396d(r)(5)). Such coverage applies, whether inpatient or outpatient, as a first-tier test if ordered by a physician or other provider acting within their state-authorized scope of practice for an individual (typically a child under EPSDT) suspected of a genetic disorder, rare disease, or health condition of unknown origin (e.g., congenital anomalies, global developmental delay, intellectual disability). (As background, EPSDT requires states to screen, diagnose, and treat Medicaid-eligible children under age 21 for any condition discoverable and treatable within age-appropriate limits, even if the service is not otherwise covered under the state plan.)
It further requires state Medicaid plans to provide separate payment for such sequencing, not bundled with other services (42 U.S.C. 1396a(a)(90)).
Additionally, this section directs the Secretary of Health and Human Services to convene stakeholders (e.g., pediatricians, geneticists, children's hospitals, Medicaid managed care organizations), conduct outreach on EPSDT benefits, and publish a report within two years of enactment on state payment amounts, utilization by children, health outcomes, and related services; and directs the Comptroller General to issue a report within two years assessing implementation barriers (e.g., prior authorization, workforce and reimbursement for genetic counselors, alignment with Medicare clinical lab fee schedule), collect stakeholder feedback, and recommend improvements to the Secretary.