DuchenneConnect Direct Access October Webinar: Updates in Genetic Testing


The New DuchenneConnect Webinar Series allows you direct access to key figures in the fight to end Duchenne. The October webinar, Updates in Genetic Testing, is now available online! Listen here: DuchenneConnect Direct Access Webinar: Genetic Testing

The speakers for the webinar were:

  • Madhuri Hegde, PhD, the Senior Director of the Emory Genetics Laboratory in Atlanta, GA
  • Susan Sparks, MD, PhD, a clinical geneticist and researcher at Carolinas Medical Center in Charlotte, NC
  • Jodi Wolff, MSSW, the Director of Clinical Services at the Muscular Dystrophy Association
Our speakers answered many important questions during the webinar, including why genetic testing is so important for your child, when your child's genetic testing needs repeated, and how to handle payment of genetic testing.


Do you want to know what other parents asked during the webinar?  Below is a list of all Q&A from the webinar.  We will continue to take questions about genetic testing and provide you with answers through this blog.


Questions from Webinar 10-26-11:

Q: When will the new array test be generally available, for instance in Germany and other countries?
The array CGH is available widely. The DMD array developed at Emory is available in Europe and is available through a company (Oxford Gene Technology) based in the UK.  It is the exact same array we run at Emory.


Q: Has there been any thought to widespread CK level checking, especially in women to detect carriers before they have children?
A: A widespread CK on general population has never been performed. Sometimes CK levels will not necessarily indicate DMD carrier status. For example, increases due exercise.  Also, not all carriers will have an increased CK level.


Q: Can I fax over my lab reports and will you be able to check my son's to determine his deletion or mutation?

A: Yes, fax to DC Coordinator, Ann Martin at 404-935-0636.


Q: My son has a deletion at the end of the gene from exon 62 to the end , would that still be DMD?
A: We need to see the report.  Please fax to DC Coordinator, Ann Martin at 404-935-0636.


Q: My son has a deletion mutation in exon 46. With only one exon being affected does that make his condition less severe? 

A: No, there is no correlation between deletion size and severity…it all depends on whether or not the reading frame is preserved.


Q: Why don't I hear about duplications in 8 and 9? Can they be skipped?

A: Duplications are very technically challenging to skip and researchers are not currently working on exon skipping for duplications.  Hopefully, in the future, once we have learned more about exon skipping we will be able to apply the technology to duplications, but unfortunately it will not be in the near future.


Q: From what I gather on Exon Skipping, it is not a method for a child that has a duplication, correct? Is it something that is being looked in to yet, or should we focus on another trial?

A: See above!


Q: When is it important to to get the mother tested as a carrier of the gene?

A: If the mutation is detected in affected son or if the mother has a family history of DMD (affected brother, alive or deceased).


Q: At which hospitals are these therapies being explored?

A: Several hospitals and academic institutions around the world.  The main ones in the US are Nationwide Children’s Hospital in Columbus, OH, Children’s Hospital of Philadelphia, Cincinnati Children’s Hospital, and Kennedy Krieger Institute in MD.  All clinical trials are listed on DuchenneConnect (www.duchenneconnect.org).


Q: Are there any other therapies for stop codon read-through other than PTC124...if so, what are they?

A: No, there are no other therapies for stop codon read-through at this time.


Q: Who would contact me if my son is a candidate?

A: We always notify patients registered on DC about clinical trials that are actively recruiting.  We also send targeted emails to those registrants who match study criteria.


Q: Is there any value in having a genetic test redone?  My son had a test done 7 years ago and it determined he has an exon skip.
A: It will depend on where the testing was done and which test was used. Fax report to DC Coordinator, Ann Martin at 404-935-0636.

Q: Is there a relationship between the length of the skipped exons and quality of the translated  result? (ie. Fewer skipped exons = more function protein,  "longer length of rope to the anchor")
 A:  There does not appear to be a correlation.  It all depends on whether or not the reading frame is restored.  If the reading frame is restored, then some partially-functional protein will be made, and that is the goal.   


Q: Is the DuchenneConnect data going back into the TREAT-NMD database so that pharma companies get access?
: Yes, the info in the DC registry is sent to TREAT-NMD, the global DMD registry.


Q: How do you get the insurance to pay for the genetic testing on siblings (daughter)?
: Ask the physician to order the test or directly contact us (Emory) with insurance details. Our billing specialist will contact insurance to get prior authorization. 


Q: Why would you get your son retested if they have already been tested?
A: If your son has been tested using one of the older methods, such as Southern blot or multiplex PCR, the precise deletion or duplication may not have been identified as these methods are less sensitive. Before retesting, it is best to contact your physician/genetic counselor and make sure that retesting is needed. Not all cases need retesting.


Q: A difficult question whose answer interests most DMD families: How many more years will it take until the first exon skipping drug (against exon 51) will be approved and can be bought in the pharmacy around the corner? What is your opinion?

A: I am not sure how long it will take for FDA approval.  The process can take several months to several years.  I hope that it goes quickly, but I really can't speculate on how long it will take to get into the clinic for treatment.

Q: Can block grant money be used to provide training for MDA clinic nurses and or social workers as they do not receive physician training?
A: Block grant money mainly is to support the actual services provided in the clinic to families.  MDA hosts an annual clinical and research conference (alternating every other year – even years is clinical, odd years is research based) where nurses and social workers can receive additional training in caring for families with neuromuscular disease.  Often, social workers receive additional training about resources and disability related issues through their individual social work departments in the hospital and their licenses require they complete a certain number of continuing education courses each year.  MDA clinic physicians often hold in-services for members of the clinic team and work closely with the nurses to provide continuing educational opportunities for the nurses.  MDA clinic grant funds typically are not used – or not needed to be used – for training.


Q: I want my child to have genetic testing, but my insurance and the MDA Clinic will not pay for it.  What should I do?

A: We have the following suggestions: 

  1. Appeal your insurance, by having your genetic counselor or doctor write a letter on your behalf
  2. Ask if the hospital and/or genetics dept has any funds to cover genetic testing for families in need (It can’t hurt to ask, and many clinics do have funds for this purpose.)
  3. If #1 & #2 do not work, try to set up a reduced fee and payment plan with your hospital (most will do this for you).
Q: How do I know if my son is in the registry
A: Email son’s name and DOB  to Ann@parentprojectmd.org and she will tell you.




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