Our final patient is a 29-year-old woman with Fabry’s disease, also X-linked, who is seeking advice on whether she needs to initiate treatment with recombinant enzyme replacement therapy. She has symptoms of pain in her hands and feet and early proteinuria; both findings suggesting microvascular disease caused by her Fabry’s. The mutation in her family also is quite severe, evidenced by others in the family history with severe problems. Based on these findings, we discuss the potential benefits of enzyme replacement therapy and initiate steps to start this therapy.
From these few cases referred to our genetics clinic by internists, it should be clear how far genetics has come, as well as how far it needs to go. Genetic counseling continues to hold value for patients and their families. The advent of hundreds of molecular tests has greatly improved our ability to accurately diagnose genetic conditions and increasingly we turn to our molecular tool boxes to reach a diagnosis, to guide medical management, and even to apply targeted therapy. To be sure, adult genetics clinics remain rare oddities, existing at only at a few academic medical centers. While we are only beginning to apply what we know about genetic medicine, I hope you found this brief glimpse at a "typical" day promising.
Dr. Taylor is associate professor in the department of internal medicine and director of adult clinical genetics at the University of Colorado at Denver.