TMC PULSE

t m c » p u l s e | s e p t e m b e r 2 0 1 4 27 other colleagues in the Texas Medical Center has added real value when we think about the problems that we will encounter in this program." In terms of medical genetics, Baylor has proven strength in skeletal biology, cardiovascular biology, neurobiology and metabolic diseases for patients of all ages. Now, as a part of this program, Baylor will expand its focus to all organ areas, and at the same time lend its specialized expertise to other members of the network who may encounter struggles in their evaluation. As one of the core features of the program, all of the institutions in the network will take an interdisciplinary approach in evaluating patients. "One of the mechanisms of this program is that if there is a patient with an unusual presentation who may benefit from our expertise, there will be collaboration between sites," said Lee. "It's a collaborative network. It may be that other sites may do the initial evaluation, and they say 'Hey there are some unusual skeletal findings. The investigators at Baylor are really good at this. Let's communicate and see if we can together identify the basis of the skeletal disease.' It truly is a network; it's not separate sites. At some level you're actually leveraging the expertise broadly of all of these institutions." Of the six joining medical institu- tions, Baylor is the only site located in the South. Although patient evaluations have not yet begun, Baylor is already building a long list of patients from all over the region who want to participate in the program. "We've got quite a big catchment area right now," said Lee. "Even without the program being formally rolled out, we already have had many inquires and we've been keeping a list to try and start responding to all of the patients out there once the program is activated." The network plans to begin its outreach with a centralized web portal that can be accessed by physicians and patients across the country. Referrals will be reported to the program, and in a regional fashion, institutions will then screen candidates to determine their issues and evaluate whether the work that has already been done on the patient was appropriate. "At the end of the day, the initial decision of who gets picked will be based on if we can, given our abilities and resources, make an impact on that patient's diagnosis," said Lee. "There are many patients who may have already had a complete work up. In that situation, we may not really be able to add very much and it would be a waste of their time and resources to bring those individuals here. We'll focus on the ones where we think, based on what's been done already, we can provide added value on the clinical research front." In cases where members of the network feel more work or evaluation should be done, and there is a possibil- ity of identifying a diagnosable cause, patients will be invited to the nearest clinical research site for further study. Examples of resources that may be used in this program include imaging, physical examinations, and collections of bio specimens, as well as sequencing of the patient's genome. "A big part of this program will be sequencing of the patient's whole genome, as well as studying other aspects of their genetic architecture, like doing family studies," said Lee. "All of that information will then be collected and integrated by the team of experts in all different areas—pedi- atrics, medicine, neurology, genetics, and others—so we can determine what the most likely diagnoses are. That report will then be returned back to the patient, and in cases where there is actually a new discovery, we will then report that to the public." Lee says that the goals of the pro- gram are two-fold. First, the network wants to help patients and their fami- lies determine the cause of their illness. Secondly, the network hopes that by doing extensive research within a rigor- ous clinical research program, new dis- coveries will be made that will broadly impact the world of medicine. "We all are focused on helping the patient, but the patient also helps us and helps medicine broadly," said Lee. "One of the features of undiagnosed disease is that often times, they point to new experi- ments in nature. When something goes wrong it causes a previously unrecog- nized disease. By identifying the cause, we will identify 'new signposts' of how things can go wrong in our bodies. By focusing on undiagnosed and difficult to diagnose disease, we may actually highlight something that no one has previously observed. These types of discoveries are the ones that can transform medicine and give us a more refined, higher resolution picture of the human body."  these types of discoveries are the ones that can transform medicine and give us a more refined, higher resolution picture of the human body. — BrendAn lee, m.d., pH.d. interim chair of molecular and human Genetics at Baylor college of medicine

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