The year of precision medicine
This past year, the healthcare industry has witnessed significant momentum in the push toward precision medicine, as evidenced by initiatives such as the Cancer Moonshot, the Parker Institute for Cancer Immunotherapy and of course, the federal government's Precision Medicine Initiative.
But, challenges in achieving personalized medicine as a standard of care do remain. Today we are collecting troves of healthcare data at greater rates than ever before, yet many researchers responsible for developing the next generation of diagnostics and treatments are still not receiving timely access to the patients, samples or data from the specific demographics they need, including under-studied populations. The Precision Medicine Initiative (PMI), led by the National Institutes of Health (NIH), has emerged front and center as a way to fix this "data-shortage" with a cornerstone of the effort focused on engaging one million participants to share their data and other health information, from a multitude of demographics spanning race, age and income levels.
Enrollment for the PMI Cohort Program will begin later this year and intends to foster open and responsible data sharing among healthcare professionals. Collected data will include participants' genomic and biological information, gathered through simple blood and urine tests, and medical history data from electronic medical records (EMRs). By creating an advanced picture of our national health, the PMI will work to accelerate treatments for common diseases – such as diabetes, heart disease, Alzheimer's disease, obesity and mental illnesses, including depression, bipolar disorder and schizophrenia – as well as numerous rare diseases.
Patient participation in PMI efforts
With all of the promise and excitement surrounding the PMI Cohort Program, many experts wonder: Will it be possible to recruit such a large and diverse patient population for study? To answer this question, the NIH recently commissioned a survey to better understand attitudes about the PMI Cohort Program, and ask potential participants about their willingness to contribute. Of the 2,601 people surveyed, 79 percent of respondents said they were in support of the PMI Cohort Program, with 54 percent saying they would "definitely or probably participate if asked."
One particularly noteworthy finding was this: "Respondents expressed high rates of willingness to share many types of personal data, such as blood samples (73 percent), genetic information (76 percent), a family medical history (77 percent), soil and water samples from their home (83 percent) and data on their lifestyle, diet and exercise (84 percent)."
Overall, the survey found that individuals across various, under-researched demographics are willing to participate in such precision medicine efforts– which is encouraging news as the Cohort soon begins in earnest.
While the PMI Cohort Program is one way for patients to contribute to medical advancements, there are other ways to help researchers advance scientific discovery. Other opportunities include donating organs, giving blood, enrolling in clinical studies and donating specimens (tissue, cells, biofluids) to be used in research.
Prior to the NIH survey, iSpecimen, a technology-driven source of human biospecimen collections for research, commissioned a survey by an independent third-party that found similar results corroborating that Americans are willing to donate clinical samples and data to accelerate medical findings. The majority of people surveyed (83 percent) were willing to allow use of de-identified clinical remnants and associated data, while nearly two-thirds were open to donating an extra tube of blood specifically for research purposes.
Central to the notion of precision medicine is the idea that all healthcare stakeholders must collaborate, and specimen donation represents a tremendous opportunity to include patients in this equation. Just as the PMI Cohort Program will generate a databank of medical information from willing participants, specimen donation will fuel the takeoff of studies, and speed to discovery, of diagnostics and therapeutics that scientists from biopharma companies, academic institutions and government programs are working on today.
The value of specimen donation in early research
Human specimens (and their corresponding data) are a particularly important resource in pre-clinical research, as they are often the first step needed to begin translational (in-the-lab) study of new medical interventions, whether drugs, therapies, or diagnostic tests. Long before clinical trials begin, researchers need specimens from patients that meet highly specific profiles, including medical histories, treatments, procedures, test results, and family histories to validate that their research can and should progress. A translational researcher, for example, may have a request as specific as colorectal cancer tissue from a 40-year-old male who has failed chemotherapy and has a certain blood type. Philanthropic patients, from a wide variety of backgrounds and medical profiles, who are willing to donate specimens, are necessary to achieve these early research goals, far before enrolling patients in clinical trials.
Traditionally, pre-clinical researchers have found it difficult to obtain the quality and quantity of specimens they need from the patients they want. Thanks to widespread hospital adoption of EMRs, researchers can now efficiently request biospecimens based on information contained there within, such as patient demographics, medical conditions, test results, medications past and present and even genomic or molecular data. As pillars of the community and veritable "treasure troves" of meaningful information, hospitals play a key role in facilitating this push to expand precision medicine via specimen donation. In order for the scientific community to take full advantage of these resources, an increase is needed in the number of hospitals willing to collaborate with researchers and educate their patients on how their specimens can be used. Thankfully, both based on the aforementioned research and iSpecimen's own experience in building out a strong network of participating hospitals and medical institutions, patients are happy to help and care sites are eager to enable medical discovery while putting revenue from the service back towards their bottom line.
Given the cost of EMR implementations, leveraging them for specimen donation allows hospitals to gain extended value from their investments both in the short and long term, on multiple levels. Donating specimens provides the opportunity for patients to contribute to precision medicine efforts, giving hospitals an opportunity to fulfill their patients' wishes to participate in "big-picture" initiatives. Further, hospitals will ultimately reap the benefits of new diagnostics and treatments which will be used one day in the course of care. Also, by contributing to medical research, hospital grant potential and visibility within the research community grows and finally, funds accrued from the specimen procurement service serve as an immediate return on traditionally longer-to-realize EMR investments.
A new bank of health information
Just like recruiting under-researched populations will be critical to the success of the PMI Cohort Program, an increase in specimens from across all demographics and condition types will allow scientists to attain a fuller understanding of how to fine-tune medical interventions for specific patients. If there is a patient group that lacks medical study, then personalized treatments for these patients will lag without the right specimens to study. Precision medicine can only expand if there are diverse sets of data, specimens and information available and stakeholders willing to provide them.
As the focus on realizing the potential of precision medicine continues, procuring the right human biospecimens across patient subtypes will only grow. iSpecimen in particular is already seeing highly specific and highly characterized sample requests from researchers with very precise inclusion and exclusion criteria. As the NIH rolls out its PMI Cohort program, the nation will be engaged both as observers and participants. With evidence that patients truly want to lend a philanthropic hand to making healthcare better, we are going to see patients as partners more than ever before, not only as part of initiatives such as the PMI, but also across related industry efforts, such as specimen donation for research. This will be essential to accomplishing truly personalized medicine.
Christopher Ianelli, MD, PhD
Founder and Chief Executive Officer
Chris conceptualized and founded iSpecimen to address the growing need for human biospecimens by the life science research communities. He is responsible for the company's growth and performance since its inception and actively oversees the corporate direction and many of the new strategic partnerships. Chris has successfully managed iSpecimen technology development and its expansion into additional partner supply sites.
Prior to launching iSpecimen, Chris served as Managing Director at Leerink Swann, a leading healthcare and life science investment bank, where he managed the expansion and delivery of services and directed strategy to develop new healthcare data and information assets for the firm. Chris was also a co-founder of Health Insight Technologies (now Humedica), a novel healthcare informatics company. Prior to this, Chris was a co-founder and Managing Director of Boston Medical & Scientific Advisors (BMSA), a healthcare investment research firm acquired by Leerink Swann. He received both his PhD in Immunology and his MD from Tufts University and completed his residency training, including one year as Chief Resident, in Pathology at Brigham & Women's Hospital and Harvard Medical School.
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