cmd international registry cmd family conference august 2010 ami mehta, ms, cgc

CMD International Registry CMD Family Conference August 2010

Ami Mehta, MS, CGCcounselor@cmdir.org

Overview

Registry ParticipationGenetic Testing

Registry Participation

Registries exist for many rare genetic conditionsCMDIR-Launched in Sept. 2009

220 registered currentlyTREAT-NMD

33+ countries with registries for neuromuscular disorders

Why Join?

Medical information

Populationsize

Trialplanning

Trialrecruitment

Research Advances

Learn from others

Community interest

Benefits

Assess community & identify unaddressed needs

Contribute to CMD disease awarenessCharacterize the community in a common

databaseHelping turn clinical trials from a

possibility into a reality

Current CMDIR registrants’ diagnoses

Countries represented in CMDIR

I’m registered, now what?

Keep your account up-to-dateSend in your test results (Genetic testing and

muscle biopsy reports are important)Watch for e-mailsEncourage others to join

Help advance research and possibility of future treatment for community

www.cmdir.org

Genetic Verification Status of Current Registrants

Genetic TestingAsk for a copy of your test results!Questions to discuss with your doctor:

I had a muscle biopsy, do I need genetic testing?

No mutation was found, do I need more testing?

I participated in research testing, do I need other testing?

Who else can help? CMDIR!

Genetic Testing-Benefits and LimitationsConfirms clinical

diagnosisMinimal procedure

riskResearch studies and

clinical trialsFamily members

Improve risk assessment

Diagnosis, reassurance

May require multiple tests

May not identify a mutation

Unexpected resultsMay not indicate

prognosis/severityCost and time for

results

Questions about genetic testing… How can I or my child be tested?

Blood sample Medical care provider must order testing

What should I know before the test is ordered? Method Detection rate Cost Insurance and Billing Possible results Turn around time Next steps

Who will interpret the results? Medical care provider

Be sure to upload or fax your results to CMDIR to complete your profile!

Summary

Registry Participation is IMPORTANTBetter understanding of CMDs and genes

involvedRaise awareness and identify populationResearch studies and clinical trials

AcknowledgementsCure CMD/CMDIR

Anne RutkowskiEmory University

Vanessa Rangel MillerMadhuri HegdeKen Loud

Innolyst, Inc.Kyle Brown