Precision Medicine at one year: A soaring White House summit and the potholes ahead (report)

From the 28 February 2016 post at HealthNewsReview

Excerpts

We’re pleased to publish the following guest post by Dr. Michael Joyner, a medical researcher at the Mayo Clinic who recently joined our team as a contributor. These views are his own. You can follow him on twitter @DrMJoyner.

---

Last week there was a big shindig at the White House reviewing progress from the first year of the million-person Precision Medicine Initiative (PMI).

As you might imagine, an event of this magnitude drew considerable (mostly glowing) coverage from major US health news media:

• Washington Post: White House to mark a year of effort on precision medicine initiative. Excerpt: In a briefing with reporters Thursday, NIH Director Francis S. Collins called the effort “the largest, most ambitious research project of this sort ever undertaken.”

…

This is an exciting scientific undertaking — one that merits the attention these outlets have devoted to it. But the coverage sounded mostly like cheerleading, and none of these stories included a skeptical word about the many challenges ahead and how they could thwart the initiative’s lofty objectives. I watched the webcast of the event with a critical eye and took notes as I was watching. Here are a six of the things that I thought journalists should have been thinking about and writing about as they covered the event:

1) A number of new partnerships and pilot programs related to enrollment of participants, data sharing, analytics, biobanks and privacy were announced. There are no real results yet, so it is simply too soon to tell what elements of what was announced will succeed, partially succeed, or stall.

2) Francis Collins, the director of the National Institutes of Health and a prime mover in Precision Medicine, clearly stated that it should take three to four years to meet the one million person enrollment goal of the program. This is an ambitious timeline. The last time that something like this was tried in the National Children’s Study, enrollment goals were never met and the program was ultimately cancelled. As STAT has previously reported, experts in population health have observed similarities between the PMI and the National Children’s Study and the comments by Dr. Collins are a clear marker for evaluating the success of PMI going forward.

3) There were a number of interesting presentations of patient and family vignettes at the meeting. While PMI is supposed to transform health and healthcare for all Americans, three of the four stories were about extremely rare diseases that have nothing to do with the big killers like diabetes, cancer, and heart disease. There is no argument by PMI skeptics about the role of gene sequencing in rare diseases, but dealing more effectively with those diseases has nothing to do with the prediction, prevention, and improved treatment of the major causes of death. The fourth presentation was about breast cancer and it was unclear to me exactly what elements of precision medicine were involved in the care of this patient (who happened to be a surgeon). In the absence of big transformative population findings for common diseases, some might argue that the rare disease community is being leveraged to generate support for a much larger and perhaps misdirected program.

4) There was no mention of some of the potholes that are out there or that have emerged in the last year. For example, the National Cancer Institute’s MATCH trial, designed to match the genetic signatures of tumors with targeted therapy, is having trouble “matching” (subscription required). And a study from Europe has cast at least some doubt on just how effective broad-based used of “targeted therapy” will be. There is also plenty of room to question the idea that data mining electronic health records is going to be transformative. The barriers to actually getting this done are significant and range from the quality of the data in electronic health records, issues related to who owns the data, protocols for data sharing, and a host of technical and statistical issues. Big data can certainly be helpful but it can also mislead.

 

Precision Medicine: Can We Afford It? Can We Afford Not To Explore It? [news release]

From the 8 March 2016 Texas A & M news release

Excerpts

Imagine that the next time your doctor orders a round of tests, in addition to cholesterol and vitamin D, she also orders a genome sequence. It sounds like science fiction, but the day might come sooner than you think.

Precision medicine—in which each patient’s prevention and treatment decisions are tailored for them—has been a buzzword in the health care industry recently. President Barack Obama launched his Precision Medicine Initiative, and other countries have similar projects underway.

With concerns about the cost of health care, though, can we afford precision medicine?

In certain instances, precision medicine can actually save money. For example, if patients can be screened for drug hypersensitivity before being prescribed certain drugs, they won’t have to be treated later, which is better for patients and cuts down on costs. A similar approach works for choosing treatments.

“When you use a therapy to target only the individuals who will benefit, you avoid wasting drugs or other resources on people who you know won’t get any benefit, and who might actually be harmed,” said David Threadgill, Ph.D., professor and holder of the Tom and Jean McMullin Chair of Genetics at the Texas A&M Health Science Center College of Medicine and director of the Texas A&M Institute for Genome Sciences and Society.

Of course, it’s not quite that simple. “Whether the economics works out in favor of precision medicine depends on two things: the difficulty and the cost of finding the best candidates who will benefit from specific, tailored treatments,” said Robert L. Ohsfeldt, Ph.D., health economist and professor in the Department of Health Policy & Management at the Texas A&M School of Public Health. “You have to know a lot about the disease process and how individual characteristics—genetics and environmental factors like diet or exposure to toxins—mediate the treatment response.”

Continue reading on Vital Record.

ClinGen: A new era for genetic interpretation [news release]

ClinGen: A new era for genetic interpretation  – University of North Carolina

Jonathan Berg, MD, PhD, is a UNC Lineberger member and an assistant professor in the UNC School of Medicine. James P. Evans, MD, PhD, is a Lineberger member and the UNC School of Medicine Bryson Distinguished Professor of Genetics and Medicine. (Source: UNC)

From the 2 June 2015 news release

CHAPEL HILL – Millions of genetic variants have been discovered in the last 25 years, but interpreting the clinical impact of the differences in a person’s genome remains a major bottleneck in genomic medicine. In a paper published today in The New England Journal of Medicine, a consortium including investigators from the University of North Carolina School of Medicine and UNC Lineberger Comprehensive Cancer Center present ClinGen, a program launched to evaluate the clinical relevance of genetic variants for use in precision medicine and research.

“Sequencing has revealed that there are potentially several million genetic variants per person,” said Jonathan Berg, MD, PhD, a UNC Lineberger member, an assistant professor in the UNC School of Medicine Department of Genetics and this year’s ClinGen steering committee chair. “Right now there is a certain degree to which we can infer what those variants do, but most of them remain really beyond our understanding of how they are affecting human health, if at all. Through ClinGen, we’re working to evaluate the clinical relevance of genes and variants, and to provide a public database so that labs and clinicians will have a resource that they can go to as a way to understand their patients’ genetic testing results.”

Clinicians and researchers hope to use information about genetic variants not only to make predictions about an individual’s risk of disease, but also to develop more accurate clinical trials and better, tailored treatments and care for patients. However, labs and clinicians may interpret the same variant differently.

…

Precision medicine is ‘personalized, problematic, and promising’

Precision medicine is ‘personalized, problematic, and promising’.
From the  10 July 2015 University of Pennsylvania news release

Since President Barack Obama’s State of the Union Address in January 2015, the nation has been talking about a revolution in patient care, known by many as precision medicine.

Of course, the country is used to hearing the president talk about health care, especially the Affordable Care Act. But when the White House starts launching $215 million initiatives to accelerate research—in this case, the Precision Medicine Initiative, according to a White House Press release—you can be sure it’s not just a passing fad.

First, what is precision medicine?

Precision medicine is about tailoring treatments to the patient’s genome and body function. The promise is that this detailed personal health data can determine what’s most effective for each individual, which can lead to better outcomes.

Most of precision medicine’s application currently focuses on cancer. Launched in 2013, Penn Medicine’s Center for Personalized Diagnostics (CPD) helps oncologists determine the best treatment for their cancer patients by looking at the cancer’s genome.

Here’s how precision medicine is being practiced at Penn:

1. A patient is diagnosed with cancer.
2. If the cancer involves a solid tumor—like breast, lung, or colon cancer—the tumor is surgically removed during a biopsy, and a chunk of the tissue is sent to Penn Medicine’s CPD. If the cancer involves blood or bone marrow—like leukemia—a sample of the blood or bone marrow is sent.
3. The CPD sequences a panel of genes that are known to be involved in cancer. This test examines DNA within the tumor, blood or bone marrow sample. The goal is to find DNA mutations that are driving the cancer.
4. A report on the mutations found is sent to the patient’s oncologist.
5. The oncologist determines if there are therapies or treatments available that work better than others—or not at all—on the patient’s particular type of cancer.

“We’re using precision medicine to give patients the right drugs, guided by the DNA sequence information from their cancer, so we’re not exposing them to potentially toxic effects,” explains David Roth, MD, PhD, director of the CPD. “This individualized therapy is better than treatment based on the ‘average patient.’”

Precision Medicine is being researched, translated and applied across Penn Medicine. Here,
experts from the Center for Personalized Diagnostics share four predictions on how precision medicine will change how cancer is treated in future generations.

1. Cancer will be diagnosed earlier.

Jennifer Morrissette, PhD, clinical director of the CPD:

“There are different stages of tumors. The earlier you catch the tumor, the more likely you are to survive it. My theory is that this century will be the century of diagnostics. We will be diagnosing people’s cancers earlier and earlier.

“That way, we are not dealing with advanced metastatic tumors that have acquired so many different changes that they’re hard to treat. We’ll be capturing tumors very early, in stage one; have a definitive surgery; follow the patient for a certain number of years to make sure that the cancer hasn’t spread; and then they’ll be cured.

“Some people put off seeing a physician because they don’t want chemo, but the longer they put it off, the more likely they are going to have metastatic disease.”

2. Cancer treatment will be based on each person’s health profile.

David Roth, MD, PhD, director of the CPD:

“[In the past,] doctors had been treating [the average patient] based upon results from a large study.

“The revolution in precision medicine is that now we have better tools to understand what’s going on with you as an individual. Instead of saying, ‘Okay, you have this particular cancer, and you have a 30 percent chance. So, go ahead and get this toxic therapy,’ we can be much more specific.

“If we were able to tell you that you have a five percent chance of responding to a chemotherapy based on the makeup of your tumor, would you still do it?”

3. Gene paneling will be used for diagnosis, not just treatment.

David Lieberman, MS, CGC (certified genetic counselor):

“We tend to see certain genes mutated in certain cancers. For example, there is a certain set of
genes [that are] typically mutated in lung cancer or another set in lymphoma.

“It is not always clear using historical methods what type of cancer a patient has. This makes treatment decisions challenging. Sequencing the tumor’s DNA on a panel of known cancer-related genes may help clarify the cancer’s origin and, in this way, assist the clinician in determining treatment or prognosis.”

$215 million: The amount the White House will invest in the Precision Medicine Initiative in 2016
Source: WhiteHouse.gov

4. More cancer patients will have a treatment team, rather than just an       oncologist.

Jennifer Morrissette PhD, clinical director of the CPD:

“It’s not going to be one physician making all the decisions. Cancer treatment has gotten much more complex. Because of the availability of multi-gene testing, you need a group of people with different types of expertise to make the best decision for a patient.

“In addition to the team directing care for the appropriate approach—whether it’s surgery, radiation, chemotherapy, pain management—now there is also the genetic component.

“[The team’s] able to sit in a room with people from the lab who can talk about what the result means, have the oncologist tell them about the patient and then get the clinical geneticist’s notion that there may be an inherited predisposition. Then, they walk out with a consolidated treatment plan for that patient.”

The future of medicine

For more than 250 years, advancements like “precision medicine” have been the hallmark of Penn Medicine. As the first school of medicine in the United States, it has been and continues to be a place where the future of medicine and the future leaders in medicine are being developed.

[Reblog] A problem with precision medicine: It’s not quite precise – at least not yet

From the 20 February 2015 post by Joseph Burns at Covering Health (Association of Health Care Journalist)

At a conference last year, Michael Laposata, M.D., Ph.D., one of the nation’s best known pathologists, explained how clinical laboratories could deliver more value to patients, physicians, and health insurers. To do so, pathologists and laboratory scientists need to provide more detailed explanations about lab test results because even physicians who order genetic and molecular tests are often confused about the results, said Laposata, chairman of the Department of Pathology at the University of Texas Medical Branch.

When he explains test results to ordering physicians, he frequently refers to an “allele” which is one of two or more versions of a gene, he said. When he does, physicians sometimes ask, “What’s an allele?”

His anecdote is telling following President Obama’s announcement last month that he recommended spending $215 million on the precision medicine initiative. The announcement was correctly hailed as an important and needed investment in medical technology. “Precision medicine” is described by the National Institutes of Health as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.”

Given that there is and will continue to be a lot of hype about precision and personalized medicine, we may want to check our expectations, because the hurdles are daunting, as Tabitha M. Powledge wrote for the Genetic Literacy Project. “The plan embodies a wonderfully human let’s-climb-Everest-because-it’s-there aspiration. But you also have to wonder about the practicality of such a sweeping program,” she explained.

…

There is not much good, proven, scientific, medical uses for what we’re talking about as personalized or precision medicine,” Greely said. “And yet, we … sell and we hype as if there is much more.”

…

“Here’s the problem: because personalized medicine is in the realm of OMG-that’s-too-complicated science, the usual watchdogs don’t see it. Plus the big academic medical centers love the grants that it generates.”

Even health insurers are struggling to understand the full implications of genetic and molecular testing…

 

Related article

Precision medicine to prevent diabetes? Researchers develop personalized way to steer prevention efforts

[Reblog] Precision Medicine Initiative: Some quick resources

 

From the 30 January 2015 post BY PIA CHRISTENSEN  at Covering Health – Monitoring the Pulse of Healthcare Journalism 

 White House has announced its anticipated “Precision Medicine Initiative,” which it describes as an “emerging field of medicine that takes into account individual differences in people’s genes, microbiomes, environments, and lifestyles – making possible more effective, targeted treatments for diseases like cancer and diabetes. ”

….

The practice of medicine has always been personal regarding the treatment of individual patients, but science has fostered a new era of so-called personalized medicine that takes into account each person’s specific clinical, genetic, genomic and environmental information in designing tailored treatment plans

…

The White House released this fact sheet today.

This interview with the director of the program in personalized health at the University of Utah offers a good explanation of what personalized care is and examples of what it could do.

For Science magazine, Jocelyn Kaiser writes that the Obama precision medicine plan would create huge U.S. genetic biobank. She follows up with more details about the price tag and budget.

…

The White House released this fact sheet today.

This interview with the director of the program in personalized health at the University of Utah offers a good explanation of what personalized care is and examples of what it could do.

For Science magazine, Jocelyn Kaiser writes that the Obama precision medicine plan would create huge U.S. genetic biobank. She follows up with more details about the price tag and budget.

 

Related articles

• Five Accelerants to the Adoption of Connected Health (From the 28 January 2015 item at The cHealth blog)

“I have been thinking lately about the cultural and business phenomena that are currently shaping and accelerating the adoption of connected health and, in that context, came up with five accelerants.  The best part of the story is that four of the five are already going on and we can see their early-stage effects.

So, at the risk of ‘dumbing down’ adoption, here is my list of five accelerants.  If we could make these go faster, the adoption of connected health would accelerate too.”

1. Increase value-based reimbursement for providers.
2. Create more mechanisms for provider reimbursement for non face-to-face care (like the new CMS CPT code that just took effect).
3. Accelerate consumer choice in the marketplace as well as ‘consumer-driven health care’ (i.e., high deductible plans, health savings accounts (HSAs), etc.).
4. Make the consumer-facing technology truly frictionless.
5. Create a universal privacy/security technology and make it a public good.

• Integrated approach to customer relationship management and patient relationship management (From the 28 January 2015 post at Health Care Conversation)

  A comprehensive consumer and patient engagement model should help providers attract and engage individuals in the key areas they value:

  • Help in understanding and navigating the health care system
  • Personalize information and care based on an individual’s needs
  • Easy access and communication with provider and care team
  • Support in managing an acute episode or a chronic illness
  • Secure access to personal health records

 

Read the entire article here

Related articles

• Obama to detail personalized medicine initiative
• Obama Precision Medicine Plan Would Create Huge U.S. Genetic Biobank
• Got genes: Obama proposes genetic biobank of 1mn Americans’ DNA to fight disease