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Gualberto Ruao on Physiogenomics and His Vision of Healthcare

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At A Glance

Name: Gualberto Ruaño, MD PhD

Title: President, CEO, and founder, Genomas

Background: Director of the Genetics Research Center and of Cardiovascular Genetics at Hartford Hospital, Connecticut; Professor of Biochemistry and Molecular Biology (Adjunct) at George Washington University School of Medicine, Washington, DC; Professor (Adjunct) at the University of Puerto Rico School of Medicine, San Juan, PR; Founder and former CEO, Vice Chairman, and CSO of Genaissance Pharmaceuticals, New Haven, Conn.

Education: BA in Biophysics from Johns Hopkins University, 1981; PhD in Genetics from Yale University, 1992; MD from Yale University School of Medicine, 1997

Age: 45

As chief scientific officer of Genaissance from 2002 - 2003, Gualberto Ruaño developed the current standard for genetic associations based on gene haplotypes and multi-allele genotypes. He is the inventor of the CAS System (U.S. patent 5,427,911) for the rapid determination of sequence variation, which is now used for HIV and hepatitis C diagnosis and treatment.

When he was replaced at Genaissance in August 2002, Ruaño turned his clinical research interests to cardiovascular physiogenomics and evolutionary medicine, and founded a new company, Genomas, exactly one year ago [see 7/31/03 and 9/18/2003 PGx Reporter].

His public policy activities center on the implementation of genomics in personalized medicine from both regulatory and reimbursement perspectives. He was elected to the Connecticut Academy of Science and Engineering in April, and noted for his contributions to personalized medicine at the national level and for biotechnology development in Connecticut.

It’s been about a year since you started Genomas. Can you tell me about it?

The salient point for this year is the partnership that we have established with the Hartford Hospital in Hartford, Connecticut — it is one of the largest tertiary medical centers in the country, it has a 150-year history of clinical care. What this partnership is about is positioning Genomas to work directly with clinical doctors at the Center. It allows us to partner our technology with ongoing clinical care, and use the ongoing clinical care to derive markers of response that can then be commercialized directly to doctors and hospitals.

So, the model is, first of all, clinical centers — it’s all based on care. From a market perspective-the market is doctors and hospitals too — we’re going straight to the clinic.

The other salient point of this year is the partnership we have now with Illumina [see 7/22/04 PGx Reporter] — that allows us to use that technology for what we term “physiogenomics,” which is an approach on networks of genes related to different kinds of environmental interactions. Pharmacogenomics is just one of the aspects that we cover in our studies — we’re also very interested in how diet and exercise, which are other kinds of challenges or interventions, can be put together to personalize prevention of obesity and metabolic syndrome.

So, in a nutshell: number one, the relationship with Hartford Hospital and establishing the company in a clinical care setting with a clinical market; number two, the partnership with Illumina to establish physiogenomics; and number three, the ongoing studies with diet and exercise — and now we’re beginning to study a drug. All of these are related to obesity and metabolic syndrome.

When did each of these main points begin?

The Hartford Hospital partnership was ongoing from the very beginning. It has been formalized now with our facilities, our laboratories in the center of the hospital. We’re smack in the middle of all the hustle and bustle of a major hospital. The company started on a virtual model, but now we’re brick-and-mortar. That started in June.

The partnership with Illumina was announced in July, and we’re building our array for metabolic syndrome. The studies have been ongoing since I started Genomas, that is actually what brought me to Hartford — cardiology at the hospital is very strong in prevention, they have a series of programs on exercise. From then I went on to dietary aspects, and now I’m moving into drug aspects as well. The clinical studies are what got me there in the first place. Those were ongoing and I was consulting with them and basically advising the different investigators from the very moment I started Genomas.

Did the clinical studies get you into Physiogenomics?

What we call physiogenomics involves intervention. For example, you have a number of people with metabolic syndrome, or let’s say, an elevated Body Mass Index above 30, so you treat these people with different kinds of diets or exercise. We do it in the same way that you would do a drug trial, except what you treat with is not a pill, it’s an exercise protocol or a diet protocol.

These studies are done with different arms according to how many different kinds of exercise or diet you are able to follow in the study, and as people respond to the challenge or the treatment, you get variability. Some people do well, some people lose weight, some people lower their insulin levels, other people get cholesterol improvement.

We measure metabolic aspects — not weight loss — this is the difference in our approach. We are very metabolically driven and we look at insulin and cholesterol at the same time. When you look at the distribution, you see some people whose insulin level went down and some who did not respond at all.

What we can do with physiogenomics and with Illumina is we can take the DNA from those people whose insulin went down, which is what you want when you treat metabolic syndrome, and you figure out what is special about those individuals from a genetic perspective, in terms of markers. And when we query them, we don’t take one gene or 10 genes — it’s 1,000 to 2,000 genes. Because these are networks of interacting genes. We query each of the genes at once using the Illumina platform for variability and from there we can extract from clinical observations the genetic [substrate?].

Has this uncovered any potential drug targets?

Our business model is related to diagnostics — we’re not in the pharmaceutical business. We are very interested in developing novel markers, that’s our product. We certainly have discovered novel markers — or targets — related to exercise responses, and how exercise can control your cholesterol profile. [For example], in which individuals LDL will not go down with exercise, or whose HDL, which is the good cholesterol, goes very high. Everybody has different responses to exercise, and we have targets now that are related to those. Those are proprietary to the company.

Initially, as a diagnostic company, we are very interested in the markers because we want to use this to optimize treatment. This is what we call personalized health. Having said that, the same markers — since everything we do is gene centered — could become pharmaceutical endeavors because exercise modifies responses to lipids based on those genes. That means those genes, if up-regulated by pharmaceutical compounds, could potentially induce effects similar to exercise.

So, by looking at these interventions, the same information can be fed back to pharmaceutical partners.

We began the company looking at exercise and diet. Now that these initial results are coming, we’re now in a position to translate that information into the pharmaceutical world as well. My vision of a integrated package of health that incorporates your sickness, your diet, and whatever drugs you are taking — I think — is becoming a reality.

Can you tell me what you look for in the company’s future?

The future of the company is in bringing the technology to the doctors and patients that will get the most benefit from it. We are going to build a laboratory that will be servicing the needs of doctors and patients with what we call a laboratory of health genetics. So, that’s our next goal — to build this lab into a resource that will interact directly with doctors and hospitals, providing the support and services for the utilization of genetics in health. Again our focus is very much treatment-based, we’re not into disease per se, we want to optimize treatment and prevent disease. And that is the next goal, to move into that setting.

Do you have any partnerships lined up for the future?

Yes. Over the fall, we are going to announce another partnership related to the programs I discussed.

What is your eventual goal?

A lot of genomics and pharmacogenomics have been related to pharmaceutical processes. A lot of companies are offering services to pharmaceutical companies doing clinical trials, and that’s more phase II and phase III, where you’re bringing this technology to clinical trials. That’s fine, but our niche is the clinic and the doctors. We’re going beyond the pharmaceutical world into the healthcare world. We’re one of the pioneers in that niche. When you get into that niche, you’re talking about the use of the markers in real medicine, with real patients, and we get all the issues the healthcare environment: [immediacy validation {??}], reimbursement, etc. But I strongly believe that the technology is ripe for it to move to the practice of medicine. And that is different from other pharmacogenomics companies — we’re really pioneering this idea of personalized health. We’re taking it very seriously. The other point is that doctors and patients want this technology to come to them, I have noticed enormous interest. And the FDA also wants to move the technology into the practice of medicine, that’s why they have the critical pathways program.

What has changed to make this move possible?

First, the knowledge base. There are some markers in pharmacogenomics that are ready for prime time. Those are markers that have sufficient validation and knowledge that you can translate them into the practice of medicine. The second point is that there is a market for it. There was a concern, five years ago or so, that people would say, “This is too advanced,” or “It’s too complicated,” or “It’s too expensive.” Basically that there are technical or economic barriers to it. I believe those barriers remain challenges, but they are pretty much surmountable. The doctors are interested, I think patients expect their medical care to be personalized. People are yearning for the fruits of the genome project to reach the clinic. And because of engineering and other technical advances, we can do this on a much more routine basis. So are the two advances: knowledge and the market assured for it.

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