Clinical Genetics Has a Big Problem That's Affecting People's Lives
        
            By Ed Yong, 
                The Atlantic
             | 12. 17. 2015
        
                    
                                    
                    
                                                                                                                                    
                                                                            
                              
    
  
  
    
  
          
  
      
    
             
  Untitled Document 
  
For Heidi Rehm,   it looked like a straightforward case. Her lab at Partners Healthcare   offers tests for genetic diseases. They had received a blood sample from   a fetus after a doctor conducting an ultrasound spotted signs of Noonan syndrome—an   inherited disorder involving heart problems and stunted growth. The   fetus turned out to have a mutation in PTPN11, a gene that affects the   risk of Noonan syndrome.
 
  Rehm found that another team of   scientists had published on that very same mutation before. (Not every   mutation of PTPN11 increases the rick of Noonan syndrome.) They found   that it was more common among Noonan patients than in healthy people,   and had billed it as “pathogenic”—that is, likely to cause disease. Rehm   reported it as such to the doctor who sent her the sample.
 
  Sometime   later, she was listening to a talk by a colleague who had found the   same mutation in a patient with Noonan syndrome and, based on the same   published study, had also classified it as pathogenic. But this time,   the patient—an adult—had contacted the researchers behind...
 
 
  
 
    
    
  
   
                        
                                                                                
                 
                                                    
                            
                                  
    
  
  
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