Personalized approaches to treatment improving outcomes in arthritis

At Mount Sinai Hospital, Drs. Kathy Siminovitch and Edward Keystone are using genetic information to uncover the causes and best course of therapy in patients with rheumatoid arthritis.

Mount Sinai’s researchers and clinicians are using genetic information to uncover the causes and best course of therapy in patients with rheumatoid arthritis, with the goal to alleviate and even reverse the severity of a person’s symptoms.

Lunenfeld Senior Investigator, rheumatologist and geneticist Dr. Kathy Siminovitch is working with Dr. Edward Keystone, Director of Mount Sinai’s Rebecca MacDonald Centre for Arthritis and Autoimmune Diseases, to create and analyze large databases of patients’ genetic and clinical information and thereby identify genes that predispose to rheumatoid arthritis and influence the disease course and outcomes.

Drs. Siminovitch and Keystone and their colleagues are working to develop a bioinformatic tool that will help patients get the right treatment sooner. “Every day we see the benefits patients get from receiving the correct medication. Promising biomarkers are now being developed that will help us predict which patients will respond to a specific medication, to help us give the best possible medication to the right patient at the right time,” says Dr. Keystone.”

And this type of patient care exemplifies personalized medicine, aimed at customizing an individual’s health care based on an understanding of their genetic make-up.

Personalized medicine initiatives are now underway at Mount Sinai, and are being led by Drs. Siminovitch and Keystone, based on a pilot electronic medical record platform designed to link clinical and genomic data.

According to Dr. Siminovitch, clinicians have long recognized significant differences in individuals with the same disease and the way in which they respond to one particular medication. Just as our genes play a major role in determining who will develop a particular disease, our genetic makeup also influences the severity and outcome of that disease and the person’s response to specific drug treatments.

“Thanks to extraordinary advances in genetic technology and clinical informatics, we are now witnessing unprecedented increases in knowledge of the genes that cause disease and influence individual responses to a disease and its treatment,” says Dr. Siminovitch. “Such information allows physicians to make more informed health decisions, intervene earlier in the course of a patient’s illness, and tailor therapy to a person’s individual genetic signature.”

Mount Sinai’s personalized health initiative is aimed at translating the wealth of new genetic information to improved healthcare delivery. According to Dr. Siminovitch, the director of this initiative, “The goal is to bring new capabilities in DNA sequencing and informatics technologies to the clinic so as to ‘personalize’ patient care and achieve better health outcomes.” She emphasizes that while genetic technology has advanced at breakneck speeds, the successful use of this technology and knowledge in the clinic will require not only extensive clinical research but also new levels of cooperation, integration and communication across the healthcare community.

The innovative efforts of Drs. Siminovitch and Keystone to develop an informatics platform will also assist physicians in making more efficient and accurate medical decisions. The informatics platform being built will allow for electronic storage of patient information in a centralized location and will facilitate rapid connection of lab test and research results to clinical data. It is expected to become a model of best practices for Mount Sinai Hospital that can be applied to not only rheumatoid arthritis, but also to diabetes, cancer, and many other common diseases.

Their work is expected to be ultimately propagated through the health care system and shared with other hospitals as well.