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Getting personal about personal genetics
July 2009
by Amy Swinderman  |  Email the author

I often feel that I have one of the most interesting and gratifying jobs a person can have—reporting on the latest life science breakthroughs and pharmaceutical discoveries, advances that may impact the bottom line of large pharmas and small biotechs right now, but will have significant, potentially life-altering, meaning for all of us later. As a writer and an editor, it's easy to dive into these stories, especially when your sources are passionate about what they do. But once in a while, a story hits especially close to home, and I can't help but cast my red pen aside and view it from the perspective of a patient.

I have fibromyalgia, a chronic pain disorder. I am also the co-founder of a support group for fibromyalgia patients in Northeast Ohio. As most of you readers probably know, fibromyalgia is considered a controversial condition because it affects patients differently and there are no laboratory or medical imaging tests to identify it. Thus, most patients must endure a lengthy—years, sometimes decades—process of elimination before receiving a fibromyalgia diagnosis. After that, the real battle begins: finding a doctor who is knowledgeable about the disease; experimenting with the various "drug cocktails;" finding ways to explain your condition to family, friends and colleagues; making appropriate adjustments to your lifestyle.

In the past few years, many pharmas have begun to focus on developing therapies for fibromyalgia, and the pain management market has been identified by many research firms as a worthwhile R&D investment for years to come. None of this is reported by the mainstream media, of course. Very little of what is being done in the field of fibromyalgia research is trickling down to doctors and patients, so most fibro patients, who are already weary of hearing, "fibromyalgia is very difficult to treat," from their doctors have the impression that very little is being done to help them.

In the course of our reporting this month, I was delighted to discover this is not the case. In the Genomics & Proteomics section of this issue, you will see two stories about firms dedicated to the concept of personal genetics—companies that offer partial genetic scans that assess the risk of genetic disease, directly to the consumer. For example, for $399, you can spit in a tube and mail it to 23andMe, which will analyze your DNA in four to six weeks and enable you to explore your genome.

Companies like 23andMe and PatientsLikeMe understand the isolation that patients sometimes feel, and they are working to connect patients to their healthcare in a very personal way. The concept is one that is extremely empowering to patients, especially those afflicted with a condition like fibromyalgia, because it gives us insight into what is going on with our health and reasons to adapt our lifestyle in order to achieve a better quality of life.

That goal is one all pharmas claim is their reason for existence, but controversy surrounds the concept of personal genetics, for many reasons. One viewpoint in particular troubles me as a patient: the notion, as 23andMe's Lizzie Dorfman put it, that some patients may not be able to "handle" knowing more about their health, and that some doctors feel it's not their responsibility to "explain" the outcome of these personal genetic tests to their patients.

If true progress is going to be made in life sciences and medicine, if patients are to achieve and maintain good quality of life, we must all assume some degree of responsibility. I see this situation as a domino effect: If patients are given the choice of getting more involved in their healthcare, they will charge their doctors to do more than write a prescription and move on to the patient in the next room; doctors will be compelled to keep abreast of the latest disease research and provide their patients with more choices; and the research community will be able to respond to a greater demand for better alternatives. Everyone in this situation is going to have to do more than what they're currently doing, but if the goal is truly to help patients, there should be less heartburn over this issue.

I'd like to dedicate this column to the patients in my fibromyalgia support group who inspired me to speak out about this issue, as they are tired of suffering in silence behind the roadblock of having a "difficult" disease. We want more, and we deserve more. We must give patients the credit and choices they deserve.



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