Genetic Screening & Testing

In its 2020 – 2022 strategic plan, ASGCT identified access to genetic testing and screening as one of its core patient access priorities. To obtain access to, and maximal benefit from, potentially life-altering approved gene therapies, diagnosing patients as early as possible is critical. Federal newborn screening legislation authorizes funding for states’ screening programs and educational efforts, as well as federal funds for the Advisory Committee on Heritable Diseases in Newborns and Children (ACHDNC). The ACHDNC provides recommendation to the Health and Human Services Secretary on which disorders should be included in the Recommended Uniform Screening Panel (RUSP) – the federal standard for which disorders should be screened by states.

ASGCT advocates for newborn screening policies that:

  • Ensure the RUSP keeps pace with treatment options. The average time from nomination of conditions to the RUSP to approval for these disorders to be added is approximately four years.

  • Encourage the process to advance a disorder through the ACHDNC is transparent, predictable, and timely. The current process is difficult to follow, with unclear standards and timelines.

  • Incentivize faster state adoption of screens for disorders included on the RUSP. The majority of states take several years to adopt new screens.

Committee Involvement

The Government Relations Committee provides oversight and input to ASGCT staff on Society efforts to encourage broader applications and access to genetic testing, including newborn screening. The Government Relations Committee develops programming at ASGCT’s Annual Meeting and the annual Policy Summit that highlights the importance of genetic testing and screening.

Collaborative Efforts

ASGCT works with a number of organizations and companies that advocate for genetic testing and screening.

ASGCT is a member of the Newborn Screening Modernization Advisory Board. The board will advise the NBS Modernization Consortium, developed to provide direction to the Research Triangle Institute’s Genomics, Bioinformatics, and Translational Research Center, as it completes a Newborn Screening Modernization Research Assessment. This assessment will evaluate the capacity of the current NBS system to provide timely diagnosis of all newborns who might benefit from new treatments upon approval in the US.



Register for the 27th Annual Meeting

May 7-11, 2024 | Baltimore, MD

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