“ It has now become standard in diagnostic genomic sequencing to offer return of secondary findings – that is , medically important genetic results that may be unrelated to the original reason sequencing was done . These findings can indicate a risk of a potentially life-threatening genetic condition for which a management program can be instituted to prevent an adverse outcome .”
— Bruce Korf , MD , PhD
WHOLE GENOME SEQUENCE REVEALS SECONDARY ACTIONABLE MEDICAL RISK
WHOLE GENOME SEQUENCE REVEALS SECONDARY ACTIONABLE MEDICAL RISK
The AGHI study enrolled Jane Doe and her child for whole genome sequencing ( WGS ) to determine if there was a genetic cause for the symptoms the child was experiencing . Jane Doe mentioned during enrollment that she had been experiencing heart palpitations for the last year and that she had not been checked out by a specialist .
Primary results of the WGS were negative for Jane Doe ’ s child , meaning that there was not a genetic explanation for the symptoms . However , Jane and her child consented to receive secondary genomic analysis for Jane Doe .
In Jane Doe ’ s case , the PKP2 gene was mutated , so she has a higher risk of developing arrhythmogenic cardiomyopathy ( ACM ), historically referred to as arrhythmogenic right ventricular cardiomyopathy . In ACM , cells of the heart ’ s muscular wall , or myocardium , are replaced by fatty cells and scar tissue , which adversely affects the heart ’ s ability to pump blood . People with ACM may experience heart palpitations , fainting , or lightheadedness . Unfortunately , the first effect of ACM for some people is cardiac arrest or sudden death .
In addition to genetic tests for other medical reasons , it is recommended that people undergo genetic testing for the cardiomyopathy gene PKP2 as a secondary finding . Cardiomyopathy , specifically ACM , can be treated more successfully when it is detected and treated as early as possible .
In this case , ACM was ruled out as a cause of Jane Doe ’ s heart palpitations after she sought care from a cardiologist based on her AGHI results . The AGHI secondary finding provided Jane Doe ’ s primary care physician with the basis for a referral to a cardiologist .
Meghan Bartos Certified Genetic Counselor
Genetic cardiomyopathies are almost always passed down from generation to generation . Results for Jane Doe were returned to her by Certified Genetic Counselor Meghan Bartos . Genetic guidance on how to address this finding in Jane Doe , and any other family members who also may be at risk , was provided , as was contact information for future guidance .
According to Bruce Korf , MD , PhD , “ It has now become standard in diagnostic genomic sequencing to offer return of secondary findings – that is , medically important genetic results that may be unrelated to the original reason sequencing was done ,” he says . “ These findings can indicate a risk of a potentially life-threatening genetic condition for which a management program can be instituted to prevent an adverse outcome .”
“ It has now become standard in diagnostic genomic sequencing to offer return of secondary findings – that is , medically important genetic results that may be unrelated to the original reason sequencing was done . These findings can indicate a risk of a potentially life-threatening genetic condition for which a management program can be instituted to prevent an adverse outcome .”
— Bruce Korf , MD , PhD
14 Alabama Genomic Health Initiative Annual Report 2022