Shortly after doctors confirmed that she had an advanced form of lung cancer, Annie Cacciato put plans in motion to connect with researchers who have closely studied the EGFR mutation, the genetic variant of the malignant tumor that grew on her lung without notice.
Cacciato’s journey would take her to Ohio State University (OSU) in Columbus, OH, where doctors said she qualified to participate in a clinical trial centered on precision medicine — an evolving type of medical research that tailors cancer treatment to the genetic makeup of a patient’s tumor.
Six months after she commenced treatment and took a combination of two Food and Drug Administration (FDA)-approved drugs, Cacciato’s cancer went into remission, an outcome she said she didn’t expect, especially since reached Stage 4. Since reaching that milestone, Cacciato has advocated for expanding the scope of lung cancer research, which she says is currently lacking in data about her specific ailment.
“The problem with lung cancer is that it doesn’t have a screening mechanism that anyone could use. So when people get it, it’s a fluke that they got it and it’s so advanced,” Cacciato, a mother of three and one of more than 200 patients at OSU’s James Cancer Hospital and Solove Research Institute, told ThinkProgress.
Cacciato said she’s excited about plans that President Obama recently revealed at his annual State of the Union address to “lead the United States into a new era of medicine” with a $215 million project that would help oncologists and researchers move away from the one-size-fits-all model of cancer treatment that she says rarely works in patients’ favor.
“I think it’s great that Obama is spending this money for precision care,” Cacciato said. “When it comes to lung cancer, timing is everything. There’s no time to waste so this research has to keep going. Prevention, early detection, and targeted therapy research would positively affect lung cancer patients and people suffering from other cancers.”
Proponents of President Obama’s plan say that doctors can better predict a patient’s likelihood of developing cancer with a wealth of information at their disposal. Under the medical model of precision medicine, medical professionals conduct diagnostic testing on cancer patients and select therapy that’s closely tailored on their genetic content or a complex molecular analysis rather than the type of cancer. Tools used in precision medicine often include molecular diagnostics, imaging, and analytics software that deciphers the genetic sequence of ailments by drawing on a database of information from individuals with similar biomarkers.
So far, a handful of Republican lawmakers, including Sen. Lamar Alexander (TN) and Fred Upton (MI), have indicated their support for President Obama’s plan. Scholars at the conservative American Enterprise Institute have also expressed cautious optimism. The potential bipartisan initiative represents a rare example of collaboration across the political aisle — a deviation from the gridlock Americans have seen when it comes to other issues like the federal budget, immigration, and abortion.
If approved by Congress, this multi-million dollar investment will be used to coordinate efforts between the National Institutes of Health, FDA, and the Office of the National Coordinator for Health Information Technology (ONC) to develop a voluntary national research group that will help researchers foster an understanding of cancers and ultimately create effective approaches to treatment. The funds will also help the ONC secure exchange of data across systems and allow the FDA to develop a regulatory structure that protects public health.
In addition to GOP politicians, the proposal also has some support among major players in the medical research industry.
“We commend the administration’s commitment to advancing the field of precision, or personalized, medicine,” John J. Catellani, president and CEO of Pharmaceutical Research and Manufacturers of America (PhRMA), wrote in a statement to ThinkProgress, in which he explained that between 12 to 50 percent of all compounds currently researched in the industry have the potential to be personalized medicines.
“The biopharmaceutical research sector is strongly committed to researching and developing personalized medicines, and ensuring patients can gain timely access to them. Recent advances in diseases such as cancer and cystic fibrosis are delivering on the promise of targeted treatments. These advances hold great promise in improving patient outcomes and controlling costs by targeting the right medicines to the right patients,” Catellani wrote.
The advancements that Castellani mentioned have ripened the opportunity for researchers across the country to collect the genetic sequences of cancerous cells and expand patients’ access to cutting edge technology that will help them get to the bottom of what’s causing their ailment. At Wake Forest Baptist Medical Center in Winston-Salem, N.C., for example, those who are covered by the state insurance plan MedCost can get their cancer diagnosed and undergo therapy that’s targeted to the genetic makeup of their tumor free of charge.
Dr. Boris Pasche, the director of the comprehensive cancer center at Wake Forest Baptist, told ThinkProgress that this type of research could increase the knowledge needed to effectively carry out the President Obama’s precision medicine initiative.
“Right now, we don’t have that centralized structure to put all that genetic data under one roof,” Pasche said. “First, we’ll use local storage facilities and cloud-based storage to put this together. For just one patient’s tumor, you’re talking about 650 gigabytes. We have to be thorough. If we have drugs that attack this Achilles heel effectively, we need to use them.”
That’s the hope that Sameek Roychowdhury, assistant professor and medical oncologist at OSU, has for President Obama’s initiative. Since launching a precision medicine clinical research program at the university — the one that lung cancer advocate Annie Cacciato now participates in — more than a year ago, Roychowdhury said his team has studied nearly 100 genetic sequences related to a host of cancers.
Although some critics may consider the precision medicine initiative to be too costly, Roychowdhury said that building a sound infrastructure today would provide oncologists and geneticists future opportunities to better collaborate and proactively diagnose and tackle cancers before they reach the life-threatening stages.
“Genomics and the next generation strategies could identify genes that someone is born with and if that gene has risks,” Roychowdhury told ThinkProgress. “If we can identify the right treatment for the right patient and time, we can avoid procedures and unnecessary side effects. That’s where the cost savings will come from. If we can support these testing strategies, we’ll take advantage of it. If you know what you’re going to do and you have the tools beforehand, you can tailor treatment to the individual rather than making sure they get the same thing as everyone else. We can be more precise about what we do, certainly when it comes to cancer.”
However, Roychowdhury acknowledges there are some hurdles to effectively carrying out precision medicine, specifically bridging the education gap in genetic counseling. While the entire human genome has been identified, there’s immense work left to be done in classifying countless genome sequences related to chronic conditions and update primary care physicians about such language. Inaccurate tests and diagnoses often thwart efforts to treat cancers and other ailments.
Acting on inconclusive information can prove detrimental. David Miller, a geneticist at Boston Children’s Hospital, experienced that last fall when a “blip” caused him to incorrectly tie a young patient’s developmental delays to DiGeorge syndrome, a condition caused by the deletion of a small piece of chromosome 22.
“We don’t have enough genetic counselors around,” Roychowdhury said. “I hope that’s one of the things covered in Obama’s initiative. We need people who could walk that line. We have to invest in their training and the translational research that helps us go from basic research to the clinic.”
Another issue relates to improving the research subjects. Gary Puckrein, president and executive of the National Minority Quality Forum (NMQF), an organization that strives to provide optimal health care for diverse society, says that President Obama’s efforts will go in vain if the pool of clinical trial participants don’t represent the racial and ethnic diversity of the country.
In 2014, NMQF along with PhRMA, launched the “I’m In” campaign, which aims to increase clinical trial participation among people of color and create medicine that’s better tailored to populations that are traditionally underrepresented in clinical research. The cohort opened the Clinical Trial Engagement Network, a resource that allows clinical trial sponsors to identify potential clinical trial participants and identify resources that can improve patient recruitment.
Despite that successful initiative, Puckrein admitted that it — along with the medical research community — has a long way to go when it comes to diversifying clinical research and ultimately tailoring treatment to the genetic makeup of one’s tumor. For instance, a 2014 University of California, Los Angeles study found that people of color account for less than five percent of clinical cancer research studies funded by NIH, even with a law on the books that mandates an expansion of minority outreach.
“We want some predictability of whether treatment is safe and effective for a patient. The only way to achieve that is to make sure that we have biodiverse clinical trials,” Puckrein told ThinkProgress. “We have no other way of treating people right now but getting volunteers in. It may not seem much to you when you’re healthy and living an active life but in that moment of care when you do need an intervention, the only way it will be there is if people like yourself and in the community are in clinical trials.” “The president could spend a gazillion dollars but no one would know how to treat certain cancers if certain people are not involved in these trials,” he added.