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Develop Programs To Speed Diagnosis

Tips for Success

  • Although each therapy and disease community is different, you may benefit greatly from reaching out to other groups who have recently had a new therapy approved for their disease to learn about their efforts, including what has and has not worked.
  • For many diseases, the presenting symptoms, number and severity of symptoms, progression, and age of onset can vary greatly. 
    • When updating information about diagnostic testing steps or criteria on your website, consider providing examples of different presentations that may delay a diagnosis.
  • If genetic testing is part of the diagnostic testing process for your disease community, consider reaching out to explore collaborative opportunities with the National Coordinating Center for the Regional Genetics Networks (NCC) . 
    • The mission of the NCC is to improve access to quality genetic services for medically underserved populations.
    • NCC Contact Us webpage
  • Whole genome, whole exome, and panel screening may be involved in identifying patients with your disease if the associated symptoms and severity are highly variable or common to more than one disease. 
    • If this is the case, consider including information on your website about the different genetic testing that may currently be used to diagnose your disease.
    • Genomics Revolution: Reliability and Access (2016) is a video presentation from a Global Genes Summit focused on the potential impact of whole genome sequencing (WGS) on the diagnosis of rare diseases.
      • It also provides a patient/clinician friendly background on the basics of genetics. 
      • The video is about 45 minutes. The speakers are engaging and present the information in a way that can be easily understood by medical professionals and members of your disease community. 
  • Patient Centered Outcomes Research Institute (PCORI) is a nonprofit organization authorized and funded through the Affordable Health Care Act. PCORI offers funding for comparative effectiveness research that is patient centered, including supporting research focused on improving diagnostic options. PCORI does not fund the development of therapies or the development of new diagnostic tests. 
    • Funded research includes:
      • Comparison of diagnostic options.
      • Comparison of alternative methods to increase access to diagnostic testing, such as telemedicine, traveling doctors, or online options.
      • Research addressing disparities in diagnosis.
    • PCORI Funding Informational Presentation is a video that provides an overview of PCORI and the type of funded research. 
      • The video is not specific to funding of research for diagnosis nor rare diseases but is directed toward rare disease patient groups. 
      • The video was taped in 2015 at a Global Genes Summit and is about 1 hour long. 
      • Although directed toward rare disease patient groups, the use of acronyms and technical language may require your undivided attention to properly absorb all of the details.

Resources

Newborn Screening
Advisory Committee on Heritable Disorders in Newborn and Children U.S. Health Resources & Services Administration (HRSA) (link)
Recommended Uniform Screening Panel (RUSP) U.S. Health Resources & Services Administration (HRSA) (link)
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN Newborn Screening Translational Research Network (NBSTRN) (link)
CDC Newborn Screening Portal Centers for Disease Control and Prevention (CDC) (link)
Baby's First Test Public Square Baby's First Test (link)
Tips for Success
National Coordinating Center for the Regional Genetics Networks About Us National Coordinating Center for the Regional Genetics Networks (link)
Genomics Revolution: Reliability and Access Global Genes (link)
PCORI Funding Informational Presentation Global Genes (link)
Patient-Centered Outcomes Research Institute (PCORI) About Us Patient-Centered Outcomes Research Institute (PCORI) (link)