Our Public Policy Priorities

The Mark Egly Foundation is committed to advancing public policies that accelerate research, improve early detection, expand access to treatment, and ultimately transform outcomes for individuals affected by Alpha-1 Antitrypsin Deficiency. Our advocacy efforts focus on strategic priorities that will create lasting, systemic change.

Priority 1: Expanding Alpha-1 Antitrypsin Research

Federal Research Funding

We advocate for increased federal investment in Alpha-1 Antitrypsin research through:

• National Institutes of Health (NIH) funding: Dedicated appropriations for AATD basic science, translational research, and clinical trials
• Rare disease research programs: Support for initiatives specifically targeting genetic conditions like AATD
• Multi-agency collaboration: Coordination between NIH, FDA, CDC, and other agencies to advance AAT science
• Long-term research commitments: Sustainable funding that enables breakthrough discoveries

Basic Science and Drug Development

Federal support is essential for:

• Understanding AAT's mechanisms: Fundamental research exploring how Alpha-1 Antitrypsin protects tissues and regulates inflammation throughout the body
• Novel therapeutic development: Investigating new treatment approaches, delivery methods, and therapeutic applications beyond traditional augmentation therapy
• Pharmaceutical innovation: Supporting drug development that may not attract immediate private investment but holds tremendous potential
• Translational research: Bridging laboratory discoveries with clinical applications

Through U.S. taxpayer contributions to federal research programs, we can move discoveries forward at the fastest possible pace, ensuring timely treatments reach those in need and bringing us closer to cures for diseases associated with Alpha-1 Antitrypsin deficiency.

Expanding Therapeutic Applications

Our policy priorities include research funding for:

• Novel uses of Alpha-1 Antitrypsin identified through clinical observation and scientific investigation
• Conditions newly recognized as related to circulating AAT levels
• Multi-system applications that leverage AAT's protective properties
• Innovative delivery systems and formulations

Priority 2: Universal Newborn Screening

Adding AATD to State Screening Panels

Every state should screen every newborn for Alpha-1 Antitrypsin Deficiency. Early detection is the single most powerful intervention for preventing disease progression and ensuring optimal outcomes.

We advocate for:

• State-by-state adoption: Adding AATD to Recommended Uniform Screening Panels (RUSP)
• Federal guidance: Encouraging the U.S. Department of Health and Human Services to recommend AATD screening
• Implementation support: Funding to help states adopt and implement screening programs
• Nationwide consistency: Ensuring all babies have equal access to early detection regardless of where they're born

Benefits of Universal Screening

Early identification through newborn screening enables:

• Prevention of lung damage: Counseling families about avoiding smoke exposure and environmental irritants
• Early monitoring: Regular health assessments to detect disease onset promptly
• Timely intervention: Beginning treatment before significant organ damage occurs
• Family planning: Genetic counseling for affected families
• Better outcomes: Normal or near-normal life expectancy when detected early and managed properly

Genetic Testing Access

Beyond newborn screening, we support:

• Accessible, affordable testing for adults with symptoms suggestive of AATD
• Family cascade screening when a case is identified
• Removal of insurance barriers to genetic testing
• Protection against genetic discrimination

Priority 3: Treatment Access and Affordability

Insurance Coverage

We advocate for comprehensive insurance coverage of:

• Alpha-1 Antitrypsin augmentation therapy: Ensuring all FDA-approved treatments are covered
• Diagnostic testing: Including genetic testing, lung function tests, and liver assessments
• Supportive care: Coverage for pulmonary rehabilitation, oxygen therapy, and specialist consultations
• Experimental therapies: Access to clinical trials and emerging treatments

Reducing Financial Barriers

Policy priorities include:

• Price transparency: Clear information about treatment costs
• Patient assistance programs: Support for co-pay assistance and financial aid
• Medicare and Medicaid coverage: Ensuring public programs adequately cover AATD treatments
• Out-of-pocket caps: Limits on patient expenses for rare disease treatments

Pharmaceutical Innovation Incentives

Supporting policies that encourage:

• Orphan drug development for rare diseases
• Fast-track FDA approval pathways for breakthrough therapies
• Public-private partnerships in drug development
• Competition to reduce treatment costs

Priority 4: Healthcare Provider Education

Medical Education Requirements

We support:

• Curriculum integration: Including AATD in medical school and continuing education programs
• Specialty training: Ensuring pulmonologists, hepatologists, and primary care providers can recognize AATD
• Diagnostic awareness: Education about when to test for Alpha-1 deficiency
• Treatment guidelines: Dissemination of evidence-based management protocols

Early Recognition Programs

Initiatives to improve diagnostic rates:

• Clinical decision support tools integrated into electronic health records
• Provider incentives for genetic testing and rare disease screening
• Quality metrics that track AATD diagnosis rates
• Public awareness campaigns reaching healthcare professionals

Priority 5: Patient Rights and Protections

Genetic Non-Discrimination

Strong enforcement and expansion of:

• Genetic Information Nondiscrimination Act (GINA): Protecting against discrimination in employment and health insurance
• Life insurance protections: Preventing genetic discrimination in life, disability, and long-term care insurance
• Privacy safeguards: Ensuring genetic information remains confidential

Employment Protections

Supporting policies that:

• Provide reasonable workplace accommodations for individuals with AATD
• Protect against discrimination based on genetic conditions
• Ensure access to family and medical leave
• Support workplace wellness programs

Healthcare Rights

Advocating for:

• Patient access to medical records and genetic information
• Shared decision-making in treatment planning
• Second opinion rights
• Appeal processes for denied coverage

Priority 6: Data Collection and Disease Surveillance

National Registry

We support establishment and funding of:

• Comprehensive AATD patient registry
• Standardized data collection across healthcare systems
• Research databases that enable large-scale studies
• International collaboration on data sharing

Epidemiological Research

Understanding the true burden of AATD requires:

• Population-level screening studies
• Tracking diagnosis rates and outcomes
• Identifying underserved and underdiagnosed populations
• Monitoring treatment effectiveness and safety

Priority 7: Public Awareness and Education

National Awareness Campaigns

Federal support for:

• Public education about Alpha-1 Antitrypsin Deficiency
• Rare Disease Day and awareness month activities
• Social media and digital outreach
• Community-based education programs

School-Based Education

Programs that:

• Teach students about genetic conditions
• Reduce stigma around rare diseases
• Encourage science careers focused on rare disease research
• Support affected students and families

How We Advance These Priorities

Legislative Advocacy

• Identifying and supporting relevant bills and legislation
• Testifying at congressional hearings
• Submitting comments on proposed regulations
• Building bipartisan support for AATD initiatives

Coalition Building

• Partnering with rare disease organizations
• Collaborating with patient advocacy groups
• Engaging with medical professional societies
• Working with pharmaceutical and biotech companies

Grassroots Mobilization

• Empowering patients and families to contact legislators
• Organizing advocacy days and events
• Providing advocacy tools and training
• Amplifying patient voices in policy discussions

Strategic Communications

• Educating policymakers about AATD
• Publishing policy briefs and position papers
• Engaging media on key issues
• Leveraging social media for awareness

Our Vision for the Future

Through strategic public policy advocacy, the Mark Egly Foundation envisions a future where:

• Every newborn is screened for Alpha-1 Antitrypsin Deficiency at birth
• Federal research funding accelerates discoveries and cures
• Universal access ensures all patients receive timely, effective treatment
• Healthcare providers routinely recognize and diagnose AATD
• Patients are protected from discrimination and financial hardship
• Innovative therapies continue to expand AAT's therapeutic applications

Policy change saves lives. By advancing these priorities, we honor Mark Egly's legacy while building a healthcare system that serves the needs of the AATD community and prevents unnecessary suffering.

Get Involved

Your voice strengthens our advocacy efforts:

• Contact your legislators about AATD policy priorities
• Share your story with policymakers and media
• Join advocacy campaigns during Rare Disease Week and other key moments
• Stay informed about legislative developments affecting the AATD community
• Support our policy work through donations and volunteer engagement

For more information about our policy initiatives or to get involved in advocacy efforts, contact our policy team at policy@markeglyfoundation.org.