# Presentation: 411156

## Approaches to Providing Quality Testing for Rare Diseases:

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

## 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**

## 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.**

## 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)**

## Rare Heritable Diseases Laboratories

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

## 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.  **

## 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 lab’s positive results, given the risks of false negatives as well due to sample degradation, etc..)  **

## Specific Strategies

_**Approach # 1:**_
**	****Laboratory Review Program**
_**Approach # 2:**_
**	****Credentialing Program for Laboratory Directors and Practitioners **

## 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**

## Specific Strategies:Credentialing 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.**

## 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**

## 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**

## 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**

## Outcomes

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

## Key Programmatic Considerations

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

## 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**

## 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**

## 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**