Determine Who Should Join

Establish Diagnostic Criteria

Determine what type of diagnosis is required for joining your registry. Start with the requirement that participants have been diagnosed by a clinician. If needed, include additional diagnostic criteria.


  • What is the typical method for making the diagnosis?
    • Clinical evaluation (medical history and physical examination)
    • Laboratory tests
    • Imaging tests
    • Diagnostic procedures
  • Do patients need to be diagnosed by a particular specialist (neurologist, geneticist, etc.)?
  • Are there any specific test results or clinical criteria required for an official diagnosis?

This type of information is considered protected health information (PHI), also known as personal health information, which is defined as all personally identifiable information (PII) such as demographic data (e.g., age, sex, ethnicity/race), medical histories, test results, doctor’s notes, and other information that could be used to identify a patient. The Privacy Rule of the Health Insurance Portability and Accountability Act of 1996 (HIPAA) creates a set of requirements and restrictions for the handling of PHI by certain “covered entity.” “Covered entities” include health plans, health care clearinghouses, and health care providers. In the case of most contact registries, HIPAA does not apply because patients or their parents or legal guardians are the ones providing the information directly to the registry. HIPAA may become important when collecting PHI for research registries. To read more about HIPAA and PHI,  visit the U.S. Department of Health & Human Services (HHS) website.


Establish Diagnostic Criteria
HIPAA Privacy Rule: Information for Patients U.S. Department of Health and Human Services: Health Information Privacy (link)