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April 16, 2008
Curation Workshop – Genetic Testing
The purpose of the meeting is to ensure patients have complete genetic testing, that data is collected and curated (validated) in a rigorous way, and make sure patients/families are informed and eligible to participate in upcoming clinical studies.
Participants
Utah – Bob Weiss, Kevin Flanigan, Payem Soltanzadeh, Neo May
Emory – Andy Faucett, Madhuri Hedge, Ken Loud, Vanessa Miller, Madhuri Hegde
Hospital for Sick Children – Canada Peter Ray
Treat NMD – Sarah Baumeister
PPMD – Giovanna Spinella, Pat Furlong
PPMD Canada – Kelly Lail
Treat NMD registry in an international database that includes more than 20 registries around the world, with www.duchenneconnect.org as one of the participating patient self-report registry partners. The goal of the database is to identify patients for participation in clinical trials.
Once registered on www.duchenneconnect.org, a downloadable summary page will be available to patients/families containing information related to optimal care for discussion with physicians/health care professionals.
The purpose of this global database is expected to be the ‘one stop’ for data access and for access to and participation in clinical studies on the horizon. Potential industrial partners would apply for access to these data. They would receive a response within 14 days, but must have IRB and an ethics board in place.
When to retest? Genetic testing is complex. In recent years, testing methods have changed dramatically and we now have the ability to understand a great deal more about specific mutations. While we cannot draw a line in the sand about testing and suggest that genetic testing that was done a certain number of years ago or a specific method of testing was incomplete, it is important for patients/families to recognize that if there is a clinical diagnosis of Duchenne, a mutation should be identified. This means, if genetic testing for you or your child was done some time ago and no mutation was found, it is important to consider retesting. New testing methodologies (CHIP/SACIP) are currently able to identify nearly 100% of all mutations. It is also important to understand that testing WILL NOT change the clinical diagnosis, but it is important in terms of entry criteria for international databases, as well as some, clinical trials. MDA has announced a genotyping campaign. This means they will cover expenses related to testing if insurance will not cover. If you have questions about testing, if your son has not had any testing, or if your son needs retesting, register on www.duchenneconnect.org and connect with online genetic counseling services and discuss whether repeat testing is necessary.
Posted by ppmd at April 16, 2008 10:21 AM