The human genome is a magnificent thing. It contains the instruction manual for our body and influences many aspects of our lives, including how we experience and interact with our environment.
Our understanding of the body’s genetic processes has grown exponentially in recent decades. Since scientists completed the mapping of the human genome in 2003, researchers have made more progress than anyone could have imagined in unlocking its mysteries. Many experts believe we are on the cusp of a scientific revolution and that we are entering into an era of increasingly effective medicine.
While such optimism may be rationally founded, the size of the challenge facing researchers is immense. We might know a lot more about what makes our bodies work and what also makes our bodies go wrong, but we still do not have either a cure or a prevention for many of the most common health conditions affecting us.
The data remains unambiguous. In 2017, there were an estimated 1.7 million cases of cancer diagnosed in the U.S., with approximately 600,000 cancer deaths. Cancer and heart disease collectively kill more than 1.2 million people in the United States a year, and the mortality rate of neurodegenerative conditions such as Alzheimer’s continues to rise as life expectancy increases.
It’s not for a lack of will. Everyone agrees on the need to find cures for conditions that have long eluded us. Almost everyone has contributed in some shape or form at some point in time, whether through participation in charity events or professional philanthropy.
Take billionaire Bill Gates, who put serious cash behind the race to develop innovative new treatments for Alzheimer’s. Gate’s first-hand experience of his father suffering with Alzheimer’s makes his investment a particularly personal one. All of us are affected by genetic conditions in some way or other.
The Importance of Collective Action
Just as the success of Human Genome Project required the support of governments worldwide, the move toward more precise medicine is seeing similar levels of commitment from government agencies, private entities and non-profits in the United States and abroad.
While it remains early days, the collective effort has been having an impact. Since then President Obama launched the Precision Medicine Initiative (PMI) to Congress during his State of the Union speech in 2015, the adoption of innovative, experimental treatments has picked up pace.
“I want the country that eliminated polio and mapped the human genome to lead a new era of medicine, one that delivers the right treatment at the right time,” Obama told congressmen and women at the time.
Speaking in the weeks following, the former president said doctors had always recognized that each patient is unique but medicine was finally moving into an era where treatments could be much more tailored to the individual.
“You can match a blood transfusion to a blood type: that was an important discovery. What if matching a cancer cure to our genetic code was just as easy, just as standard?” Obama asked, heralding the success of doctors at the Children’s Hospital of Philadelphia several years earlier in treating then six-year-old Emily Whitehead’s leukemia with a new kind of cancer immunotherapy.
Emily’s story represented an amazing medical breakthrough. Her T-cells were collected from her blood, processed in the lab to identify a protein specific to leukemia cells, and then re-infused into her blood. The young girl was declared cancer free within a month. An experimental scientific technique based on a highly precise understanding of cellular biology was saving the lives of children.
Progress Through Numbers
One swallow does not make a summer, as the saying goes. The acid test is how to scale a treatment and make it available for a wider population in a way that maintains medical efficacy while preserving safety. In order for science to better treat the individual, scientists must analyze the population at large to identify meaningful patterns within each cohort. The more information at hand, the better the ability to discern meaningful trends and to initiate the treatment development process.
Nowhere is the focus on data more urgent than in the fight against cancer. Speaking to the American Cancer Society around the time of the Precision Medicine Initiative’s launch in 2015, Matthew Meyerson of the Dana-Farber Cancer Institute insisted on the need to sequence many more cases of cancer to better understand which genetic mutations in a patient with lung cancer actually drive the growth of cancerous cells.
“When you have cancer, and you have mutations, one of the challenges is to figure out which ones are important and which ones aren’t, and one of the big ways we can figure out which ones are important is to determine the sequences of a very large number of cancers,” Meyerson said.
The centerpiece of the Precision Medicine Initiative is the All of Us Research Program. The program is working to collect biomedical data from approximately one million people in the United States to provide the basis for further genomics research. It is driven by the principle that the answer to many medical problems lies in the analysis of large and diverse datasets.
The data collection work is not confined to the All of Us program. The Department of Veteran Affairs maintains one of the largest biobanks in the country, with a focus on brain disorders such as ALS (Amyotrophic Lateral Sclerosis) and PTSD (Post-Traumatic Stress Disorder), while big pharma is working closely with federal agencies in developing standardized approaches to cancer immunotherapy in an attempt to speed up medical breakthroughs and related drug development.
The Impact of Single-Use
One of the impacts of the move toward personalized medicine is the increased adoption of single-use bioprocessing in the lab. Whereas larger volume processes often remain beholden to stainless steel, single-use solutions are proving advantageous for the more agile, small-scale testing associated with precision medicine.
Research conducted from BCC bears this out. According to the firm, more than 90% of biopharmaceutical facilities in 2015 were consuming single use devices as part of their daily operation.
“The trend will only expand as precision medicine brings customized dosages and live proteins, monoclonal antibodies and vaccines,” said BCC’s senior healthcare editor Robert Hunter. “Prepared blended bioreactors and mixers, containers and tubes are replacing the age of glass beakers or stainless steel tools that had to be sterilized and reused.”
Mark Sitcoske, founder and CEO of High Purity New England, an international manufacturer and distributor of custom single-use solutions, agrees. “I think the reality is that we are going to shrink the pharmacy. It’s going to get smaller and smaller,” Sitcoske said. “We have many companies now that are building individual production plants for individual patients.”
The implications for progress offered up by precision medicine are immense. Blind and partially-sighted people are gaining vision, research continues on the use of cancer cells in creating cancer vaccines, and treatments for MS (Multiple Sclerosis) and MD (Muscular Dystrophy) are firmly in the crosshairs of researchers.
While there are many questions to address around the compensation model for experimental treatments – who pays, how much, and over what time period – as well as the disclosure of personal genetic information, the genie is out of the bottle. Personalized medicine is the future and the increasingly effective medical outcomes it brings are welcome news for people suffering or predisposed to suffering from health conditions that have long proven hard to treat.