Current Situation Analysis Of Gene Testing In Clinical Practice Of Amyotrophic Lateral Sclerosis

Objective:The purpose of this study was to conduct a survey among a large sample of neurologists in China’s mainland,and to find out the attitudes and cognition of them towards the application of genetic testing in the clinical practice for ALS.Methods:From June 22,2019 to August 2,2019,an online questionnaire was distributed to neurologists of the ALS cooperative group belonging to Neurology branch of Chinese medical association and the data was collected.Statistical analysis was performed by using SPSS22.0 using chi-squared test and Bonferroni correction,P<0.05 was considered statistically significant.Results:183 neurologists from 23 provinces or municipalities in China’s mainland participated in the survey(men vs women:65 vs 118).More than half(55.7%)of doctors believe that there is no consensus on the definition of fALS in China at present.In addition to the family history of ALS,nearly half of doctors prefer to include the family history of FTD into the definition of fALS.The vast majority of doctors will or sometimes provide genetic testing for ALS patients,and the proportion of doctors providing genetic testing is 95.6%vs 74.9%for those with and without a family history.Compared with the doctors who see less than 30 new patients with ALS per year,the doctors who see more than 30 new patients with ALS per year tend to provide genetic testing for sALS(92.5%vs 69.9%,p=0.003,Pearsonx2).The four common gene screening methods chosen by neurologists in China are ALS gene panel(57.1%),whole exon sequencing(44.1%),single gene Sanger sequencing(SOD1 or TARDBP or Fus)(40.0%)and C9orf72(32.0%),respectively.The vast majority of doctors(92.9%)always or sometimes provide presymptomatic testing to family members of patients with fALS and express willingness to undergo genetic testing(89.6%)on the assumption that they were diagnosed with ALS.Conclusion:There is lack of consensus on the definition of fALS currently among neurologists in main land China.Most clinical neurologists will provide genetic testing regardless of whether or not the patient has a family history of ALS.And they will also provide presymptomatic testing for family members of patients with ALS,and doctors will also conduct genetic testing for themselves,which suggesting that domestic neurologists recognize the value of genetic testing in ALS clinical practice.