Author + information
- Mark P. Donahue, MD, MHS⁎ (, )
- Douglas A. Marchuk, PhD and
- Howard A. Rockman, MD
- ↵⁎Duke University Medical Center, Box 3298 DUMC, Durham, North Carolina 27710
We appreciate the letter from Dr. Judge and colleagues, and we agree with their assertions that the cardiology community should be very proactive in the adoption of the advances that genetics brings to the field. We believe that clinically useful testing encompasses both the widespread availability of the test (including the number of laboratories performing the test and cost of the test) and its clinical utility (the results of the test will influence management). As studies emerge that demonstrate the clinical utility of a test, the test naturally becomes more widely available and eventually more affordable.
With respect to testing for mutations for familial dilated cardiomyopathy (FDC), the authors point out that there are 9 clinical genetic testing laboratories performing sequencing for lamin A/C. Centers such as these can continue to provide the field with valuable information on mutation frequency, mutation-specific natural history, and mutation-specific interventions; such information is vital to absorbing testing into the clinical community at large. We agree that individuals with FDC with access to such genetic testing laboratories may wish to proceed with genetic testing after appropriate counseling, as information on family risk can be useful in those who test positive for the lamin A/C mutations. As we mentioned in our report, “The natural history of familial dilated cardiomyopathy is not known with the exception of some rare cases (lamin A/C), and mutation-specific interventions beyond standard heart failure therapy and genetic counseling do not exist” (1). We agree that all individuals with inherited cardiomyopathies should receive the appropriate genetic counseling. We did not address the conditions of hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy as these are to be considered in other studies from the series on cardiovascular genomic medicine.
Again, we applaud the proactive stance of the authors. In this climate of direct-to-consumer advertising we would prefer that genetic testing be facilitated through a patient–doctor relationship and not obtained through one of many emerging commercial entities.
- American College of Cardiology Foundation