Approaches to Providing Quality Testing for Rare Diseases:

1
Approaches to Providing Quality Testing for Rare
Diseases

• Johns Hopkins University Experience
• Patricia Charache, M.D.
• May 21, 2004

2
Discussion Outline

• Institutional Charge to ensure quality of all
  patient care testing at JHMI
• Principles applied
• Specific strategies employed
• Summary of results
• All laboratories
• Rare heritable disease laboratories
• Key programmatic considerations
• Current work in progress

3
Charge to Ensure Quality of Patient Care Testing

• 1992 Laboratory Survey for CLIA (Performed by
  JCAHO) 26 citations, all in non-Pathology
  laboratories
• Johns Hopkins Medical Institutions (Hospital and
  University) charged Pathology with establishing
  a program to ensure quality.

4
Summary of Non-Pathology Laboratories

• Total 37 Laboratories, 33 Lab
  Directors 8 Rare heritable diseases
  labs
• Locations Pediatrics, (9), Medicine (7),
  Anesthesiology, (3), Oncology (3), Neurology
  (3), Radiology (3), Dermatology (3), Gyn/Ob
  (2), Ophthalmology (2), Psychiatry
  (1), Urology (1)

5
Rare Heritable Diseases Laboratories

• Molecular Testing (PCR) 4
• Cytogenetic 2
• Other 2

6
Principles Applied

• Strategy needed to ensure accuracy, e.g.
• Pathology and non-Pathology laboratories would be
  held to the same standards of good laboratory
  practices
• All tests had to be documented with both
  analytical and clinical validation
• Reports must be timely, and include test
  limitations and interpretations.

7
Principles Applied (Continued)

• All laboratories must meet CLIA and JCAHO
  standards.
• (We found that research labs lacked good
  laboratory practices, such as reliable patient
  identification, specimen rejection criteria, run
  to run sensitivity validation, etc. We therefore
  elected not to have a CLIA Laboratory confirm a
  research labs positive results, given the risks
  of false negatives as well due to sample
  degradation, etc..)

8
Specific Strategies

• Approach 1
• Laboratory Review Program
• Approach 2
• Credentialing Program for Laboratory Directors
  and Practitioners

9
Specific Strategies Laboratory Review Program

• Laboratories are surveyed (initially by a
  non-Hopkins independent consultant)
• Written survey summaries are provided to the Lab
  Director (and Department Chair), flagging
  specific CLIA/JCAHO deficiencies
• Lab Directors replies with corrective action
  programs
• Laboratory re-reviewed to document corrections
• Process is repeated q 2 years, and as necessary

10
Specific StrategiesCredentialing Program

• By-Laws of Johns Hopkins Hospital were changed to
  require that all Directors and practitioners of
  Pathology or Laboratory Medicine had to have
  Privileges granted by the Department of
  Pathology.
• The Pathology Credentials Committee was enlarged
  by 3 non-Pathology members
• Criteria for privileges were defined and applied
  to both Pathology and non-Pathology faculty.

11
Credentialing Program Criteria for Laboratory
Directors

• Results of Laboratory Reviews
• Proficiency test results and ability to problem
  solve errors
• Reports of occurrence/complaints
• Ability to establish and validate new tests

12
Outcomes

• Laboratories Closed 5
• (3/5 continued research, 2 were closed)
• Work transferred to Pathology 11
• (9/11 were friendly arrangements)
• Pathologist appointed as Director 7
• (Former director became Medical Dir.)
• Independent Laboratories 14
• Divided Responsibility 3

13
Outcomes Rare Heritable Diseases Laboratories

• Laboratories Closed 2 (3/5 continued
  research, 2 were closed)
• Work transferred to Pathology 0
• (9/11 were friendly arrangements)
• Pathologist appointed as Director (1)
• (Former director became Medical Dir.)
• Independent Laboratories 6
• Divided Responsibility 0

14
Outcomes

• CLIA/JCAHO Survey Results
• (71 laboratories plus Point of Care sites,
  Pathology and non-Pathology)
• Rare citations Non-Pathology laboratories
  Pathology labs

15
Key Programmatic Considerations

• Educational approach
• Pathology Medical and Administrative Leadership
• Laboratory Technical Staff
• Institutional Leadership
• Legal Department
• Department Chairmen
• Credentials Committee
• Clinical Laboratory Directors

16
Key Programmatic Considerations (Cont)

• Avoid any appearance of bias
• Evidence based data
• Work through academic structure (Foster
  institutional support, unpopular decisions made
  by Department Chairs)
• Provide information and support to all
  laboratories evenly

17
Work in Progress

• Need to address special needs of transitional
  laboratories (especially personnel requirements)
• IRB education recognition of certain
  protocols that using laboratory tests that should
  have oversight
• Funding for a rapidly expanding research-based
  need

18
Discussion Summary

• Institutional Charge to ensure quality of all
  patient care testing at JHMI
• Principles applied
• Specific strategies employed
• Summary of results
• All laboratories
• Rare heritable disease laboratories
• Key programmatic considerations
• Current work in progress