I’m not sure what first attracted me to genetics, although I know I was in the 10th grade when I saw a March of Dimes symposium at my high school. I was fascinated by the familial nature of genetics, the fact that they used mice to mimic and study human diseases, and the beauty of the DNA double helix. The diseases are rare, and while that makes them more special to me, they aren’t given much attention in nursing or medical schools. My genetics teacher talked about genetic approaches to treating diseases that at the time were straight out of a sci-fi novel: growing organs from single cells, changing a DNA base to correct a mutation.
He made it all sound so easy. We thought anything was possible.
Curing genetic diseases is not easy. But we have made tremendous progress in our understanding of rare genetic diseases and have also learned that the genome influences common diseases like cancer.
Every day, amazing new developments in genetics and genomics (which is on a bigger scale and is more than rare diseases) are directly advancing healthcare for millions of people. We’re learning not only how to diagnose and treat rare disorders like muscular dystrophy, but also how to attack cancer based on genomic changes in a patient’s tumor. In fact, just today the FDA approved a companion diagnostic test for patients with lung cancer that enables “precision medicine,” a genomics-based approach to treating disease that focuses on the individual to improve outcomes. Such treatments, and the tests that identify the right patients, will soon be saving lives similar to the way insulin is used to treat diabetes.
And yet, it’s not clear to me that our healthcare system is ready.
The barriers are many…physicians are busy and don’t have time. Historically patients with genetic diseases come along so rarely that workflows to address their needs haven’t been created. Genetic tests and services have reimbursement challenges.
I want to help. I feel strongly that patients with genetic diseases deserve special attention and care. That it’s our obligation to deliver life-saving treatments based on genetics discoveries. And that it’s possible to optimize the delivery of genomics services so that they are efficient and cost-effective.
With a commitment to understanding your institution’s needs and resources, and the goal of delivering excellent patient care, let me work with your physicians and staff to create a program that works for everyone. Please contact me for more information.