By Patrice Milos. Well, it seems as though I’ve made a habit of annual posts to Disruptive Women in Health Care, and in hindsight the timing seems just about right as we attempt to trace the path of innovation in genomic technologies and their application to health care. 

By stepping back, once a year, I use the opportunity to reflect on the rapid pace of technology development in the area of DNA sequencing and pose the question – “Does this rapid pace translate into something meaningful for patients?”  Hopefully as you read this synopsis you’ll come away with an understanding that technology alone isn’t enough, but the emergence of new critical success factors suggests the answer is yes!

“We’ve discovered the secret of life." - Francis Crick

Indeed from just one year ago, the cost of DNA sequencing has declined precipitously – a year ago, a complete human genome sequence cost somewhere between $50,000-100,000. Today, the cost is closer to $10,000 with the promise of the $1,000 genome over the horizon.  New companies have entered the market and the competition continues unabated with desktop machines promising to enable complete genome sequencing shortly.  Yet while this addresses the continued technological innovation, does it deliver impact on health care?  Not quite yet, but if you’ll allow me, I’ll digress some and tell you why I believe this will change shortly.

Having spent the better part of my career in the field of personalized medicine, I have had the opportunity to know many people who are passionate about this field and contribute in major ways to the pace at which this field is developing.  One of these individuals is Mark Boguski, an MD and PhD.  Mark is presently an Associate Professor of Pathology at Beth Israel Deaconess Medical Center and the Center for Biomedical Informatics at Harvard Medical School.  Mark has held numerous influential positions during his career including a major leadership role at the Novartis Biomedical Institute, a founding directorship of the Allen Brain Institute and was a founding scientist at the National Center for Biotechnology Information.  Mark’s and my path have crossed many times over the years but a key hallmark of Mark’s career is that he is always ten steps ahead of the field and can see well what the future holds. 

I reflect on Mark’s experiences for you as earlier this year he invited me over to Beth Israel to meet with him and Jeffrey Saffitz, MD, PhD and Chief of the Department of Pathology at Beth Israel.   We discussed the pace of technological innovation in DNA sequencing and agreed that the business investments will ultimately deliver on the promise of the $1000 genome.  (more…)

Well – sadly it’s been one year since I have posted a blog with Disruptive Women in Healthcare so I really need to update you all on the fascinating science occurring in the genomics community.

Shortly after I wrote my last blog in October 2008, I attended a meeting at one of our country’s finest scientific institutions– Cold Spring Harbor Laboratories – where some of the world’s foremost scientific discoveries have occurred. At this inaugural meeting entitled “Personal Genomes”, scientists discussed the tremendous potential for understanding the genome and translating this knowledge into our quest for the personalization of healthcare – yet at this meeting one year ago, we were acknowledging that we had sequenced less than a handful of genomes, the task at hand enormous and not for the faint of heart. Yet these initial genome sequences revealed the extensive diversity and challenges in linking common disease phenotypes to individual genetic variation.

I returned to Cold Spring Harbor for the second “Personal Genomes” meeting two weeks ago and I must say, I have begun to see our path forward. Well over 50 genomes have now been sequenced, the quest for the $1000 Genome is at hand and we are beginning to feel the momentum building with a strong emphasis on the field of cancer. Indeed just last week, President Obama and Dr. Francis Collins, the newly appointed NIH Director, announced some $5 billion in NIH awards to be spent during the next two years through the American Recovery and Reinvestment Act all aimed at advancing scientific discoveries. Including in this funding is $175M to extend the Cancer Genome Atlas project. The intent is to sequence the DNA from thousands of tumor samples, obtained from 20-25 tumor types, to help us understand the genetic variation within these tumors that have resulted in their unchecked growth within the human body. The quest being the fundamental understanding of what goes wrong in the tumor tissue and thus offering new hope for better therapies and the ability to match an individual’s genetic signature to the best treatment. I remain optimistic that in my children’s lifetime, cancer will be a chronic, treatable disease.

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When I was at Pfizer, I worked with colleagues at NHGRI and FNIH to form the Genetic Association Information Network (GAIN) — a public-private partnership that encourages industry and academic collaboration to better understand the genetic basis of common disease.

At the final GAIN analysis workshop earlier this month, we were given the chance to review data generated over the last two years, including disease studies of psoriasis, depression, schizophrenia, diabetic nephropathy, and bipolar disorder. It was exciting to see that each study identified important regions of the genome associated with these diseases. Unfortunately we also learned that neuropsychiatric diseases remain a challenge as the search for genetic variation and diseases is hampered by the complexity of the phenotypes involved, as well as the apparent diversity in genes which contribute to the diseases.

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Shortly after the passage of the Genetic Information Nondiscrimination Act, in the 110th Congress, a reporter asked me why I thought the bill was so important. I pondered the question briefly and replied, perhaps in a way she was not expecting, that I felt we now were poised with an informed congress who better understands the potential importance of an individual’s genome information.

To take that thought one step further, I believe this landmark legislation and the thirteen years which led up to its passage have provided our country and our citizens with a renewed energy to guide our congress once again to build the next story – providing our citizens with the potential for better and more personalized healthcare.

Earlier this month, we once again saw the topic of genomics and medicine brought to the halls of the 111th Congress with Representative Kennedy’s introduction of the Genomics and Personalized Medicine Act of 2008 (H.R.6498). The bill originally proposed by Senator Obama in the 110th Congress once again brings new hope for patients and signals that scientific innovation is important in our country.

As a scientist who is passionate about the ability to use the knowledge of the genome to improve human health through better disease diagnosis and treatment, this legislation let the debate begin.

I am anxious to see once again how science and technology can disrupt the future of “health care as usual.”

I look forward to sharing our progress in this field of personalized medicine and sharing my experiences in both the pharmaceutical industry during my time at Pfizer and in my new role as the CSO at Helicos, an innovative single molecule DNA sequencing company poised to play a key role in our path to the future.