Helping the patient in rare disease areas

Paul Tunnah interviews Geoff McDonough


Hardly a day goes by when we don’t hear something about the most common diseases of our time – heart disease, diabetes, major cancer types such as breast, prostate, lung or colon, and others that affect millions of patients. These areas are all high-profile and supported by hundreds, if not thousands of pharma and biotech companies developing new therapies aimed at eradicating the disease, or at least reducing it to a chronic manageable condition. But what about patients with rare diseases, those that may affect only a few hundred people every year – who is working to help them?

In our interview with Geoff McDonough, Regional President for Genzyme, we talked about some of the challenges and opportunities of working in some of these more niche disease areas. Having previously qualified as a medical doctor Geoff came into the industry with a strong understanding of the dynamic between the healthcare provider, pharma and the patient. Here, he talks about his view across Europe, the Middle East and Africa on working closely with patients with rare diseases, how an understanding of these areas can be applied to drug development in more common diseases and the future of a focus on health and wellness, rather than just therapy.

To listen to the full interview, please click on the play button below, with a shortened transcript of some edited highlights shown in print below.

Interview summary

PT: Hello Geoff and thanks for joining me. Can you start by clarifying what disease areas you are particularly focused on right now?

GM: Genzyme in Europe, the Middle East and Africa is working to bring about 17 commercial products to 55 countries and about 500 million people, so it’s a very diverse business. The disease areas are clustered in to four main groupings. The personalised genetic health area focuses on rare diseases, mainly inherited diseases of enzyme deficiency in childhood and adults. We have an area focused on renal and endocrine diseases, mainly in the area of phosphate management in chronic kidney disease, and thyroid cancer. We also have a cluster of products in the transplant and oncology field and finally a series of products in an area we call biosurgery, which is the application of bioactive materials into joint and other interstitial spaces in the body.


“…it’s not uncommon to find that you learn something important about your drug from even the effect on a single patient.”


PT: What impact does working in rare diseases have on the development process?

GM: The rare disease space has a number of unique features, providing an unusual level of connectivity to the patient and the treating community. Because of the rarity, these are small numbers of patients, they tend to know one another and can be unusually valuable and instructive in their individual disease manifestations – it’s not uncommon to find that you learn something important about your drug from even the effect on a single patient. This leads to a certain intimacy to the development process that’s very unusual in the pharma world and it’s quite a privilege to interact with patients, their families and physicians in that way.

The other thing about rare diseases is that, in many cases, they are relatively uncomplicated from a biochemical perspective. In the area of our personalised genetic health business many of these diseases are monogenic diseases, there is a single gene which is impaired or missing which leads to a deficiency of enzyme. In that sense there is a very direct relationship between the therapy and the disease itself, therefore it takes many of the uncertainties of the relevance of the product away. Of course, on the flip side, that is balanced by how difficult it is to find enough patients and to create a homogenous enough group to study.

PT: So do you think there are some lessons here that translate to larger therapeutic areas?

GM: I think so – and probably both ways. Patients, no matter what their disease, have an enormous amount to gain from connecting with one another. In common diseases that ability to reach out to one another is perhaps less strong because it appears that everybody should know everything about it. So there’s probably a lot more that could also come from patient interaction in large diseases. On the developer side, patients are an incredible source of inspiration and I don’t think they are any less inspiring for having a common disease. The grace and courage with which people deal with their disease and therapy is remarkable and the closer we can get to them as an industry then the better we can tailor future therapies and services to deliver more value.


“The grace and courage with which people deal with their disease and therapy is remarkable…”


PT: Within your region access to medicines can be an issue, so what challenges do you see here in providing newer therapies for patients in more niche disease areas?

GM: The most important factor is that the disease state itself is well understood, as rare diseases can have much lower profiles within the healthcare community and often no profile within the payer community. A consistent effort is needed to raise awareness and help people understand the problems and challenges that patients with these diseases are facing. Also, the cost per patient for these therapies is generally quite high, so if you combine a lack of awareness with an impressive patient price tag compared to larger diseases, then payers can be very hesitant. So the biggest challenge to providing access is in helping to demonstrate the need on the one hand and on the other hand make the impact of the therapy very clear.

PT: And with that high cost per patient do you think some of the cost containment protocols, such as the health technology appraisal of the UK’s NICE, need adaptation for these rare diseases?

GM: That’s a really good question. The discussion along those lines has to start with the acknowledgement that rare disease patients have an equal right to safe and effective medicines as patients suffering from common diseases. So, I don’t think there’s any question of lowering the bar for bringing therapies to these disease areas. However, the goal of health technology assessment is to provide a high value therapy for a reasonable or sustainable investment, which remains important. The quantity and the quality of the type of data that’s available to payers in rare diseases at launch is typically lower, so the emphasis has to be on including the development of in-life outcomes data following approval so that payers can make an immediate decision and then evaluate it 24, 36 or 48 months after approval. This is the only way to demonstrate the value of the medicine when recognising that most HTA methodologies have really been built to deal with much larger data sets.


“Preventative medicine and the concept of aiming for wellness and health is an essential part of the equation…”


PT: When you look across your portfolio, what areas of opportunity do you see within preventative medicine?

GM: Preventative medicine and the concept of aiming for wellness and health, as opposed to just a treatment for disease, is an essential part of the equation in making our healthcare investments sustainable and higher value over the long term. As I look across our portfolio in renal disease, genetic disease and cancer the uniting theme is the ability to accurately and quickly diagnose patients while they are in a state of health, or near health. Whether you’re treating chronic kidney disease and the difficulties with phosphate management, or bringing chemotherapy to bear in a cancer patient, the faster the patient is diagnosed and appropriate therapy selected then the better the outcome. Obviously, I think you are also pointing to the idea of a whole new wave of medicines, such as therapeutic vaccines or gene therapy, which can be given ahead of a disease state based on a risk profile. If their effects are as long lasting in practice as they promise then they really will usher in a new era of healthcare. So an orientation to health and wellness is a very strong driver to look beyond therapeutic approaches into diagnostics, public health and awareness that can make a big difference over the longer term.

About the interviewee:

Geoff McDonough, M.D. is Regional President at Genzyme, responsible for its businesses in Europe, Eurasia, Middle East and Africa. He joined the company in 2002 as a business analyst in Corporate Development and his tenure at Genzyme has been marked with many successes in the rare genetic disease area which he joined in 2003, and ultimately led from 2008 through 2010.

Geoff was a key speaker at the recent Fleming Europe Orphan Drug Congress 2011. He is a graduate of the University of North Carolina and Harvard Medical School and completed his residency training at Massachusetts General Hospital in Internal Medicine and at Boston Children’s Hospital in Paediatrics.

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