By Ann Poorboy, Contributor
Do you remember the Human Genome Project? From 1990 through 2003[i], researchers were able to identify between 20,000 and 25,000 genes. It was basic information about the almost three billion chemical base pairs that we know as CATG, GTAC, or the many variations. Each letter in the sequence represents one of the four main bases found in our DNA and RNA, these are:
C – Cytosine
A – Adenine
T – Thymine, and
G – Guanine
The human genome is the complete set of nucleic acid sequence for humans, encoded as DNA within the 23 chromosome pairs. It is through the collection of contributions of individual scientists, that we now have this valuable tool that allows researchers to identify those genes that play a role in rare diseases. To date, we have an identified approximately 7,000 rare diseases. And hopefully, this knowledge will inspire research and development into therapies that will improve the lives of patients with rare diseases. So far NORD, the National Organization for Rare Diseases, has reports on about 1,200 of these rare diseases and works to promote awareness. Still, we have a long way to go considering there are only about 600 orphan drugs approved by the FDA to date.
So, if you had a rare, potentially life altering disease, and there was only an 8% chance that there would be a therapy to minimize the symptoms, delay the worsening, or potentially save your life – would you want to know?
Some physicians feel this way. Our Orphan Drug team hears them say – “why test someone for something when there isn’t anything we can to do to help them once we find out?” We need to remember that physicians are taught that they should never miss an opportunity to do some good for every patient. We’ve seen some of the results of this teaching in more common health issues such as the overuse of antibiotics. While working on a medication education project in the late 1990’s, I asked a family practice physician once what prompted him to prescribe antibiotics when they would probably make little difference in the outcome of a cold or flu. He responded, “it is difficult to look at a young mother who has taken a day off work with her child, paid for a visit, and send her home without anything.” The medical professionals I have come to know over the years are the most compassionate educated people you would ever want to meet. However, with so many diseases to learn, and with a particular rare disease being something they may never see in their professional lifetime, they don’t spend much time learning about them. That’s why it is so important that industry take the lead in educating them about new therapies and options available to their patients.
Patients living with rare diseases usually visit several physicians before they are accurately diagnosed. What if we could improve their diagnostic journey by educating more physicians and ultimately shortening the time it takes to get the properly diagnosed and hopefully treated? A survey, conducted by Global Genes reveals that physicians have a growing appreciation of the societal impact of rare diseases with 60% of PCPs, and 80% of specialists stating they welcome the challenge that rare disease brings and would like to be part of finding a diagnosis. The survey goes on to state that for patients, it can take an average of 4.8 years to achieve an accurate diagnosis.[ii] While they wait to be diagnosed, the patients’ conditions often worsen due to delayed therapy.
On the Orphan Drug Program(s) I manage, we have a saying that when living with a rare disease “Every Day Matters.” So we work really hard to identify physicians who currently have and currently treat patients with rare diseases – and we’re successful. I was asked once about our success rate and how we managed our failures. The response today is the same as it was then, once we start to notice we aren’t finding them fast enough, we come together as an internal think tank and work even harder to find them. It isn’t easy, but we have a determination as a team I haven’t seen elsewhere. We consider it an honor and a privilege to help these patients. That’s where pure passion comes in. We’re passionate about orphan drugs because we see every day what Griggs published in 2009, that “for patients with a rare disorder, the disease is no longer rare – it is a constant part of their lives and the life of their families.”[iii]
[i] http://www.davidstreams.com/mis-apuntes/human-genome-project/ – and cover image
Ridley, M., Genome, 2006.