# Presentation: 763040

## Rare Disease Genetic Testing: CLIA-Research Lab Partnerships

- David H. Ledbetter, Ph.D.
- Patti L. Mills, M.S.
- Soma Das, Ph.D.

**SACGT  Presentation **
**November 16, 2001**

## Rare Disease Genetic Testing:Scope of Problem

**GeneTests (May 20, 2004)**
**1,053 genetic diseases listed **
**711 offered by CLIA labs  **
**342 offered by research labs only**

***~1/3 of all genetic diseases tested ***
***are performed in research labs only!***
** ****likely underestimate due to lack of reporting by research labs***

## Rare Disease Genetic Testing:Problems with research lab testing

**1) Personnel not trained or credentialed as  **
**    ****clinical laboratory specialists *****(practicing***
***    ******laboratory medicine without a license)***
**2) Anecdotal estimates of  *****1-2% rate of ***
***    ******sample mix-up***** in genetics research labs  **
**    ****performing linkage analysis**
**3) Not consistent with OHRP; *****unacceptable ***
***    ******risk to human subjects***** for incorrect **
**    ****diagnosis and counseling information**
**4) Against federal law (CLIA88)**

## Rare Disease Genetic Testing:Potential Solutions

**Research labs receive CLIA exemption for    rare diseases**
**Research Labs become CLIA certified**
**Research labs partner with CLIA labs**
**Establish National Laboratory Network for               Rare Disease Genetic Testing**

***Not consistent with requirements of OHRP***

***May only meet minimum standards***

***Consistent with OHRP***

## Research labs partner with CLIA labs: A general paradigm

**CLIA molecular genetics or pathology labs  exist at most academic medical centers.**
**Many CRCs have CLIA lab certification (could be required by NIH for all CRCs).**
**Therefore, all patient specimens should be received in CLIA lab for DNA extraction;    *****partial sample***** given to research lab for    linkage and/or mutation analysis.**
**All clinically useful results confirmed by      CLIA lab on same sample and reported.**

## Research labs partner with CLIA labs: A general paradigm

**IRBs should more closely monitor research protocols involving blood samples for genetic analysis ****(~60% at UC)**** for OHRP and CLIA compliance.**
**Funding agencies should provide guidelines for research labs to partner with CLIA labs; costs incorporated into grant applications.**

## Research labs partner with CLIA labs: A general paradigm

**	****Since genetic testing in research labs is a *****significant risk to human subjects*****, the increased research cost of partnering with CLIA lab for appropriate quality control is an inappropriate counter argument. **

## ELSI:  Ethical, Legal and Social Implications of the HGP

**Privacy of genetic information**
**Fairness in use of genetic information**
***Safety and efficacy of genetic tests***
**	****5% of total HGP research budget (DOE and NIH) devoted to ELSI issues, but genetic testing poorly represented.**

## Rare Disease Genetic Testing:  the Solution

**	**
**National Laboratory Network for Rare Disease Genetic Testing**
***established October 15, 2001***

**http://www.genes.uchicago.edu/NLN/NLNHome.html**

## Slide 10

## (www.genes.uchicago.edu)

- _Mission Statement_    _About the NLN_    _**Participating Laboratories**_    _Related Links_    _How you can help_

- (www.genedx.com)

## Mission Statement    About the NLN    Participating Laboratories    Related Links    How you can help

- _Mission Statement_    _About the NLN_    _Participating Laboratories_    _**Related Links**_    _How you can help_

## Acknowledgments

**Efforts to establish the National Laboratory Network for Rare Disease Genetic Testing have been funded by:**
**	****______________         ______________ **
**	****______________         ______________**