Rare Disease Week on Capitol Hill is sponsored by Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation.

Newborn Screenings Saves Lives Reauthorization Act H.R. 482 / S. 350

The Need: The federal law that supports newborn screening programs expired two years ago. Currently, 33 states do not screen for all of the federally recommended conditions, leaving hundreds of babies undetected and without timely treatment each year. Newborn screening programs are in critical need of funding and resources. And limitations to the current system yield significant delays between the availability of a treatment and implementation of screening, putting infants and children at risk for preventable mortality and disability.

The Proposed Solution: The Newborn Screening Saves Lives Reauthorization Act reauthorizes the Health Resources and Services Administration (HRSA) state grants to expand and improve screening programs, provide educational resources to parents and health care providers, and improve follow-up care for infants with a detected condition. It also Reauthorizes the Centers for Disease Control and Prevention (CDC) grants to states to ensure quality assurance for laboratories and provides language to improve data collection.

Clinical Trial Diversity Legislation: (DEPICT Act and NIH Clinical Trial Diversity Act)

Diverse and Equitable Participation in Clinical Trials (DEPICT) Act (HR 6584)
The Need: Diverse patient participation in clinical trials is currently lacking and needs to be addressed. There is a need to enhance data reporting on clinical trial participant demographics and provide resources to underrepresented and underserved communities to improve access and participation in clinical trials.

The Proposed Solution: The DEPICT Act would direct the commissioner of Food and Drugs to amend certain regulations to increase clinical trial diversity. This bill would require sponsors to submit an application that includes demographic subgroup enrollment targets, rationale for enrollment target numbers, and a diversity action plan discussing how targets will be met. It will be required that an annual report be submitted regarding the progress being made to increase diversity in clinical trials. The bill would also require the HHS Secretary to develop and support activities that increase community engagement and outreach to underserved communities to facilitate inclusion in clinical trials/research.

NIH Clinical Trial Diversity Act of 2022 (H.R 7845)
The Need: Racially and ethnically diverse individuals, as well as members of other underrepresented groups, are not adequately reflected in clinical research. NIH has current policies that aim to enhance diversity and inclusion in clinical trials. There is a need to expand on those policies to increase the participation of women, racially and ethnically diverse populations, and individuals across the lifespan in all NIH funded clinical trials.

The Proposed Solution: The NIH Clinical Trial Diversity Act of 2022 would require NIH to work with clinical trial sponsors to develop clear and measurable recruitment and retention goals based on disease/condition prevalence as well as a rationale for specified goals and a recruitment plan; ensure the availability of less burdensome follow-ups during clinical trials (e.g., fewer follow ups, phone participation, weekend hours) to increase participation of underrepresented populations; and launch a public awareness campaign across federal agencies related to research participation opportunities.

STAT (Speeding Therapy Access Today) Act H.R. 1730 / S. 670

The Need: It is widely recognized that traditional regulatory processes have become more complex involving combinations of therapies, genomics, novel diagnostic tests, multi-systemic diseases, small patient populations, manufacturing challenges, and precision medicine. As a result, innovative and streamlined multi-stakeholder collaborations and initiatives are required to be applied to the rare disease regulatory system.

The Proposed Solution: The STAT Act’s primary focus is to create a Rare Disease Center of Excellence which will address the unique challenges across rare diseases, providing solutions that can benefit therapeutic development for many communities. This approach has proven successful for cancer patients with the establishment of the Oncology Center of Excellence in 2017. The STAT Act would inform rare disease policies and actions by creating a Rare Disease and Condition Drug Advisory Committee. The committee would advise the HHS Secretary on policies to address barriers impeding development of and access to rare disease therapies.

Learn more www.statact.org.

Access to Genetic Counselor Services Act H.R. 2144 / S. 1450

The Need: Genetic counselors are not currently recognized as providers by the US Centers for Medicaid and Medicare (CMS). This limits who can receive the critical services board-certified genetic counselors provide and can result in prolonged wait-times for genetic testing, delays in diagnosis, and inadequate psychosocial care for patients and families.

The Proposed Solution: The Access to Genetic Counselor Services Act of 2021 would authorize CMS to recognize certified genetic counselors as healthcare providers, allowing them to receive 85% of what physicians receive for providing genetic counseling services to Medicare patients. This would provide access to genetic counseling services for up to 60 million Medicare beneficiaries and is projected to save CMS up to $4 billion over 10 years. Additionally, this would cut down wait times for patients waiting to see a covered genetics provider. Genetic counselors are a growing workforce and are well-equipped to meet the needs of these individuals, but barriers to reimbursement limit Medicare patients’ access to their service.

Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT) Act HR 4472 / S. 373

The Need: Through the Prescription Drug User Fee Act updates in 2012 and provisions in the 21st Century Cures Act in 2016, the FDA has programs and policies in place to ensure that patient perspectives are gathered and made available throughout the risk-benefit analysis of potential
therapies. However, there is currently no requirement that the FDA use this data in their analysis or report on how the patient perspective factored into the risk-benefit analysis.

The Proposed Solution: The Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT) Act would amend the Food, Drug and Cosmetic Act to ensure that patient experience, patient engagement, and patient-focused drug development data be included in the risk-benefit assessment. Additionally, the BENEFIT Act would require the FDA to report on how these data were used throughout the risk-benefit assessment.

Join the Rare Disease Congressional Caucus

The Rare Disease Congressional Caucus helps bring public and Congressional awareness to the unique needs of the rare disease community (including patients, physicians, scientists, and industry), and creates opportunities to address barriers to the development of and access to life-altering treatments. The Caucus gives a permanent voice to the rare disease community on Capitol Hill. Working together we can find solutions that transform hope into therapies and cures.

Medicaid Expansion

Medicaid expansion would give more low-income adults access to health care services, resulting in improved health outcomes.  In addition, Medicaid expansion would reduce the health coverage gap for individuals living below poverty level and reduce the cost of uncompensated care for emergency room use by individuals without health insurance. Medicaid expansion would increase state economic growth by creating new health care sector jobs to treat the influx of newly enrolled Medicaid beneficiaries. 

Incentivizing Medicaid Expansion Act

This bill provides the enhanced federal medical assistance percentage (FMAP) to every state that expands Medicaid coverage for individuals who are newly eligible under the Patient Protection and Affordable Care Act, regardless of when such expansion takes place. The bill applies retroactively.

The National Economic Burden of Rare Disease Study

The EveryLife Foundation of Rare Diseases conducted The National Economic Burden of Rare Disease Study providing the most comprehensive assessment of the total economic burden of rare diseases (RDs) in a single year. Through this research, the estimated economic cost of 379 rare diseases reached nearly $1 trillion in the U.S. in 2019. To generate the data for this study, EveryLife identified both direct medical costs, via an analysis of claims data, and indirect and non-medical costs, via a survey (The Rare Disease Impact Survey) of 1,399 members of the rare disease community.

The study identifies an urgent need to fund research, enhance awareness, and improve access to diagnoses, care, and treatment of rare disease. Congressional support of rare disease appropriations priorities would advance critical rare disease research and therapy development at the National Institutes of Health, the Centers for Disease Control and Prevention, and the Food and Drug Administration.

Source: Cover Alabama. www.coveralabama.org | EveryLife Foundation for Rare Diseases. www.everylifefoundation.org