[SCD-FORUM] 94C Molecular genetic studies. Dr. Liu

[SCD Symposium]

Dear Dr. Alejandra Guerchicoff, Dr. Guido D. Pollevick, Dr. Charles  
Antzelevitch:
I have a question, this is the problem I met in clinical practice  
last year. If the one who was found having mutation, but he or she  
did not want to tell his or her spouse, how shall we do? All the  
family members have been screened, and every one want know the result.
Sincerely Yours
Wenling Liu from Beijing Univ.People's Hosp.

--
Dr. Sergio Dubner
President of Scientific Committee

Dr. Edgardo Schapachnik
President of Steering Committee



>
> Dr. Leonid Makarov from Russia asks
>
> - What patients have indication for molecular genetic studies? In  
> the case of detection of genetic mutations, characteristic for  
> short or long QT syndrome, Brugada syndrome, Arrhythmogenic Right  
> Ventricular Dysplasia, would it be ethical to inform all patients  
> about these findings?
>
> Dr. Alejandra Guerchicoff, Dr. Guido D. Pollevick and Dr. Charles  
> Antzelevitch answer
> - Genetic tests are done to confirm a suspected diagnosis in a  
> proband with clinical signs and symptoms of the disease, to predict  
> the possibility of future illness in family members, to detect the  
> presence of a carrier state in unaffected individuals (whose  
> children may be at risk), and to predict the response to therapy or  
> qualify a patient for gene-specific therapy, particularly in  
> syndromes such as long QT syndrome. Genetic testing is also  
> critically important to advancing research aimed at better  
> diagnosis and treatment of the syndrome. Genetic tests involving  
> the channelopathies you mention are best done under the supervision  
> of an electrophysiologist, ideally with the assistance and support  
> of a certified genetic counselor.
> Receiving test results can be an emotional experience and the  
> collaboration of the physician with a genetic counselor can help  
> guide the patient and his/her family through a difficult time and  
> assist with decisions as to whether extend the test to other family  
> members.
> Privacy issues are paramount in any discussion involving  
> notification of patients of the results of genetic testing. All  
> patients tested must give informed consent before the test can be  
> carried out. In so doing, they can elect to be notified of the  
> results or not. Their individual rights must be respected. Most  
> countries have laws that protect the privacy of individuals  
> undergoing genetic testing, preventing release of the results to  
> anyone without specific, written consent from the patient.

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