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by Alexandra Taylor Published on 11th Oct 2015
by Alexandra Taylor Published on 11th October 2015
Recent technological advances have changed the medical landscape for the better. Over the past decade, the democratization of genetic testing has opened new doors for the study of disease. The explosion of wearable devices has allowed us to closely monitor the finite details of our fitness and sleeping patterns. Bioinformatics, the study of complex biological data, has emerged to help scientists grapple with this influx of information. In turn, a new string of “-omics”—genomics, proteomics, metabolomics, pharmacogenomics—has emerged, all aimed at turning this information into usable clinical data. Precision medicine is a rapidly developing trend in clinical research. Scientists in this field intend to tailor medical care to individuals based on their genes, environment, microbiome, health history, and diet. By splitting patients into subpopulations based on these parameters, doctors will select treatments from which the patient is most likely to benefit, and avoid those that might be ineffective or harmful. This is a marked break from the “one size fits all” approach practiced in the past. By searching for biomarkers—peculiarities about a person’s biological data—researchers may be able to uncover early indications of disease, or factors that confer resistance. Precision Medicine Initiative At the beginning of this year, US President Barack Obama announced a proposed budget of $215 million for the Precision Medicine Initiative (PMI). This forward-thinking endeavor will involve the cooperation of multiple government agencies, along with a host of public-private partnerships, with the goal of large-scale biomedical data collection and analysis. The PMI’s bread and butter will be its research cohort, a group of over 1 million Americans who volunteer to share their data. The cohort will be open to all US citizens. Patients will give blood samples and DNA for sequencing, undergo a clinical exam, donate their health records, and potentially contribute fecal samples so that researchers can analyze their microbiome. To sequence entire genomes on such a large scale would be too costly, so researchers instead will hunt for specific single nucleotide polymorphisms (SNPs, pronounced “snips”), mutations linked with known genetic conditions. The National Institutes of Health (NIH) will receive the lion’s share of the funding, and will be charged with establishing and collecting samples from the cohort. Additionally, the Food and Drug Administration (FDA) will receive funding to set up a database to store the collected data, and to develop techniques for the next generation of genome sequencing. The Office of the National Coordinator for Health Information Technology (ONC) will oversee the privacy of the patients and ensure secure data exchange.If Congress approves the budget request, the cohort will begin recruiting sometime next year. The self-stated mission of the PMI is to “enable a new era of medicine through research, technology, and policies that empower patients, researchers, and providers to work together toward development of individualized treatments.” The short-term research goal is cancer. This family of diseases is becoming a greater problem as the population ages. Most cancers are the result of damage to the genome that occurs throughout life, although some are caused by inherited mutations. Precision medicine shifts the focus of cancer diagnosis from survival likelihood to measurable parameters specific to a particular patient’s case, such as tumor load. Each tumor has its own genetic profile that can be mapped and analyzed. Currently, we do not know why some cancers are not affected by particular drugs, why genetic variations exist among tumors, and how certain drugs can affect a tumor when used in combination. We need tools to measure drug response and cancer recurrence more accurately. The PMI hopes to address these issues. In the long term, the PMI aims to provide techniques for the molecular diagnosis of a wide array of conditions. In the future, blood tests may be able to detect circulating cancer cells early on. Genomics may uncover genes that confer disease resistance. The gut microbiome may reveal clues about obesity. Portable devices may more accurately monitor blood sugar, blood pressure, and heart rhythm. The greatest strength of the PMI will be its scale. Data will be shared among researchers all over the country. More eyes means more chances of uncovering clues, and more opportunities to think creatively. There are problems posed, however, by the prospect of large-scale data collection. Because this effort is the first of its kind, the infrastructure to support this type of project must be built from the ground up. Patient privacy must be a number one priority. There are doubts as to whether the NIH can support this expensive and long-term study. The National Children’s Study, involving 100,000 subjects, abruptly failed due to budget and management concerns. While other countries are already studying large groups on this scale, such an undertaking has been nearly impossible in the US, which lacks a centralized health system. If the plan is implemented carefully and correctly, however, it could be a turning point for the field of medicine. 23andMe It is impossible to discuss large-scale biological data collection without mentioning 23andMe. This Silicon Valley-based private company has pioneered the “direct to consumer” approach to genetic testing by partially analyzing the genomes of over 1 million customers. 23andMe’s strength lies in the size of its active community. By offering engaging surveys, 23andMe keeps its members interested while uncovering links between their DNA and their health, habits, and characteristics. The company currently offers test kits for $99. After a saliva sample is received, it is tested on a “SNP chip,” which looks at 650,000 genetic variants. Members are grouped by traits, and those groups are analyzed for common SNPs. Initially, 23andMe provided its customers with health reports outlining their chances of developing certain diseases, but the FDA banned them from offering this service in 2013. The company is currently working with the FDA to bring back health reports by the end of this year. 23andMe has shown some success in retroactively predicting the efficacy of certain medications. By analyzing the target SNPs of drugs in clinical trials, their researchers predicted with somewhat higher accuracy whether those drugs would succeed. However, there is potential that a given SNP is just a marker commonly inherited alongside the disease-causing mutation, and not the problem itself. This has not stopped 23andMe from stepping into the biotech sphere. In March, the company announced that it will be starting its own research and development team, and they may start sequencing full genomes in the near future. Baseline Study Last year, Alphabet Life Sciences (formerly of Google X) announced its own foray into the realm of large-scale biological data collection. The Baseline Study will start out by collecting data from 175 people, and later thousands, to paint a picture of what a healthy human looks like. The team, composed of experts from many different fields, is not studying one specific disease. Rather, the Baseline Study will utilize Google’s computing power to search for biomarkers hidden within a mass of biological data. The majority of known biomarkers are associated with late-stage diseases, since the patients being studied are already sick. The Baseline Study hopes to establish early biomarkers to speed up diagnosis, potentially before the disease takes hold. The dream is to shift the focus of medicine to prevention, rather than treatment. The Life Sciences team is already a pioneer in mobile health-monitoring technology. Last year they unveiled a smart contact lens that continually monitors blood glucose for patients with diabetes. Google is already set up to amass and sort through large quantities of data, so they do not have to start from the ground up, as with the PMI. The Baseline Project appears promising, although as with Google’s other highly ambitious projects, it is unclear whether this will be more than just a publicity generator. The Big Picture Outside of the US, several countries are making headway in precision medicine. The 100,000 Genomes Project by Genomics England and the National Health Service (NHS) is sequencing the entire genomes of its participants, a feat that has yet to be undertaken on a large scale in the US. Sequencing entire genomes may lead to the discovery of new disease-associated SNPs, which could yield novel cures. With an effort like this, the wider the net cast, the better, as long as it coincides with a sufficiently stable infrastructure. Cooperation—among government agencies, among public and private entities, and among nations—will be necessary to maximize the benefits of large-scale research. Transparency will be crucial, in order to reach as large and diverse a population as possible. By making the public an active participant in medical discovery, precision medicine has the potential to uncover groundbreaking techniques and treatments that were once out of reach.