You have a serious medical condition, but the conventional tests fail to find an answer. You still have no diagnosis and no effective treatment. What do you do? Mayo Clinic has always been a destination for patients seeking answers. Now, Mayo is taking that concept to the next level with the public launch of its Individualized Medicine Clinic -- at all three of its campuses, in Minnesota, Florida and Arizona.
"This is about integrating the latest in genomic science into modern medical practice," says Gianrico Farrugia, M.D., director of Mayo's Center for Individualized Medicine. "This is not whimsical sequencing, but a comprehensive and professional approach aimed at serious problems. This is what we've been working toward since the genome was mapped."
To be clear, this is not experimental medicine or a clinical trial. Though Mayo's genomic research continues within the Center for Individualized Medicine, this is not research. It is cutting-edge tertiary clinical care and a regular part of Mayo Clinic's medical practice.
"The Individualized Medicine Clinic (IM Clinic) is a consulting service within Mayo that is using whole exome sequencing to find solutions for patients with serious conditions -- conditions that are medical puzzles, which no one has yet solved," says Kostas Lazaridis, M.D., medical director of the clinic.
Currently, the Mayo Individualized Medicine Clinic offers two types of consulting services: one for cancer patients who have failed standard treatments; and a second for "diagnostic odyssey" cases -- complex disorders that appear to have some type of genetic cause. Researchers work with physicians and bioinformatics and genetics specialists to identify what may be small genetic alterations in an individual's genome that may be the clue others could not find.
A large team for a complex service
Mayo's Individualized Medicine Clinic has more than 20 physicians trained in genomics and ready to work with patients in this new medical discipline. Genetic counselors are also part of the team, guiding patients through the process, ensuring that they understand the findings and their options. Clinic staff work closely with patients' families as well, not only for understanding and support, but because many conditions are heritable and may impact a number of individuals. Pathologists, scientists, bioethicists, genomic counselors, bioinformatics specialists, technicians and operations staff support the individualized medicine medical team.
The Individualized Medicine Clinic began seeing its first patients about six months ago during a startup period and the numbers are growing weekly. In some cases, the clinic has not been able to help the patient due to severity of the illness. In other cases, the clinic provided information to families that may be useful in the future. And in others, the clinic found a genetic alteration or mutation and were able to provide improved therapy. Here are three examples.
*A 15-year-old girl and her family who have a rare genetic syndrome. Several members have undergone full genomic analysis, the details of which are expected shortly. This has the potential of a before and after scenario.
*A father and son diagnosed with a genomic alteration leading to a special type of kidney disease.
*A patient with cholangiocarcinoma, an uncommon cancer of the bile ducts. After failing standard treatments, he was diagnosed and treated at the IM Clinic and now is responding to a novel therapy.
The patients described above are available for interviews.
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