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NIH Precision Medicine Initiative

NIH Precision Medicine Initiative

Connections to Precision Medicine

Precision medicine is already saving lives. Read the stories of some of the people who have benefited from this new approach:

William Elder Jr.

William Elder Jr. was diagnosed with cystic fibrosis (CF) at the age of 8, when the life expectancy for CF patients was very low. Now at 27, Bill is alive thanks to Kalydeco, a treatment of a particular form for his CF and a remarkable drug that treats the underlying cause of his CF, rather than the symptoms.

At a congressional briefing in 2013, Bill told members of the U.S. Senate that just knowing that there were individuals who were researching his condition gave him hope and the strength to continue his treatments and work to be healthier every day. Bill described waking up in the middle of the night after taking his new treatment for the first time. "I sat on the floor of my room for a while slowly breathing in and out through my nose, and then I realized that was it. I had never been able to easily breathe out of my nose before. This was something profound," he says. He recalls telling his parents, "For the first time in my life, I truly believe that I will live long enough to be a grandfather."

Keith Yamamoto

Keith Yamamoto has dedicated his life to medicine and research. Well-known for his molecular biology and biochemistry research, Keith leads a major precision medicine effort at the University of California, San Francisco (UCSF). He continues to be a leader in the precision medicine field.

Keith currently serves as the Vice Chancellor for Research and Executive Vice Dean of the School of Medicine at UCSF. He also continues to teach, allowing younger generations to learn from his research. While promoting up-and-coming methods for targeting the specific treatments needed to help patients, Keith also chaired the 2011 National Academies Report on Precision Medicine.

Kareem Abdul-Jabbar

Six-time NBA Most Valuable Player, Kareem Abdul-Jabbar was diagnosed with a form of leukemia in 2008. Known to be lethal, leukemia is a cancer of the blood and bone marrow. It caused the basketball great to slow down, fall ill, and worry. A few years later, he credits precision medicine for helping him to be well today.

Emily Whitehead

At age six, Emily Whitehead was the first pediatric patient to be treated with a new kind of cancer immunotherapy and was cancer free only 28 days later. "If you didn't know what happened to her, and you saw her now, you would have no idea what she has been through," says Emily's mom.

Her parents decided to enroll her in a pioneering cancer immunotherapy trial at the Children's Hospital of Philadelphia. Emily's T-cells were collected from her blood and re-engineered in the lab to recognize a protein found only on the surface of leukemia cells. Those T-cells were then infused back into Emily's blood, where they circulated throughout her body on a mission to seek and destroy her leukemia. Knowing how to turn these T-cells into what Emily called "ninja warriors" required big investments in basic biomedical research. In fact, Science Magazine named it a 2013 Breakthrough of the Year—Emily's family couldn't agree more.

Melanie Nix

Melanie Nix's family has a history of breast cancer—a history that Melanie couldn't escape when she tested positive for the BRCA gene mutations linked to breast cancer in 2008. After 16 rounds of chemotherapy and breast reconstruction surgery, she had to have both ovaries removed to further reduce risks of cancer in the future. But Melanie is now cancer free thanks to precision medicine.

Melanie's positive test results for the BRCA gene mutations instantly concerned her medical team. BRCA gene mutations are linked to breast and ovarian cancers. Further tests confirmed that she had triple-negative breast cancer, a very aggressive form of breast cancer that disproportionately affects African-American women. Her best chance for cancer-free survival was to have a bilateral mastectomy. Melanie says that this type of tailored treatment gave her hope. "Precision medicine offers the hope that by the time my daughter is at an age when she considers genetic testing, new, targeted treatments will be available to give her additional choices for preserving her health," she says.

Hugh, Beatrice Rienhoff

Hugh and Beatrice Rienhoff

Beatrice Rienhoff's eyes were spaced wider than usual, her leg muscles were weak, and she couldn't gain weight. Her father, a trained clinical geneticist, took notice and wanted to help. After six years, he and his team of scientific volunteers identified the cause of her condition.

Beatrice's original medical team had thought her condition resembled Marfan syndrome, a genetic disorder that can cause tears in the human heart. It's typically a fatal syndrome. However, the doctors couldn't fully diagnose Beatrice with Marfan—or any other known disease. Acting as "Super Dad," Hugh lead his team to identifying a variant responsible for his daughter's condition and this research gave rise to the description of a whole new syndrome. The team continues to use precision medicine to learn more about the new syndrome and further study genetic variation to help those like his daughter. Today, Beatrice is living a full life.

Far too many diseases do not have a proven means of prevention or effective treatments. Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.

The concept of precision medicine—prevention and treatment strategies that take individual variability into account—is not new; blood typing, for instance, has been used to guide blood transfusions for more than a century. But the prospect of applying this concept broadly has been dramatically improved by the recent development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as proteomics, metabolomics, genomics, diverse cellular assays, and even mobile health technology), and computational tools for analyzing large sets of data.

Two Main Components

The PMI has two main components: a near-term focus on cancers and a longer-term aim to generate knowledge applicable to the whole range of health and disease. Both are now within reach because of advances in basic research, including molecular biology, genomics, and bioinformatics. Furthermore, the initiative taps into converging trends of increased connectivity, through social media and mobile devices, and Americans' growing desire to be active partners in medical research.

Precision medicine's more individualized, molecular approach to cancer will enrich and modify, but not replace, the successful staples of oncology—prevention, diagnostics, some screening methods, and effective treatments—while providing a strong framework for accelerating the adoption of precision medicine in other spheres. The most obvious of those spheres are inherited genetic disorders and infectious diseases, but there is promise for many other diseases and environmental responses.

Objectives of the Initiative:

  • More and better treatments for cancer: The National Cancer Institute will accelerate the design and testing of effective, tailored treatments for cancer by expanding genetically based clinical cancer trials, exploring fundamental aspects of cancer biology, and establishing a national "cancer knowledge network" that will generate and share new knowledge to fuel scientific discovery and guide treatment decisions.
  • Creation of a voluntary national research cohort: NIH, in collaboration with other agencies and stakeholders, will launch a national, patient- powered research cohort of one million or more Americans who volunteer to participate in research. Participants will be involved in the design of the Initiative and will have the opportunity to contribute diverse sources of data—including medical records; profiles of the patient's genes, metabolites (chemical makeup), and microorganisms in and on the body; environmental and lifestyle data; patient-generated information; and personal device and sensor data. Privacy will be rigorously protected.
  • Commitment to protecting privacy: To ensure from the start rigorous privacy protections, a multi-stakeholder process will solicit input from patient groups, bioethicists, privacy, and civil liberties advocates, technologists, and other experts in order to identify and address any legal and technical issues related to the privacy and security of data in the context of precision medicine.
  • Regulatory modernization: The Initiative will include reviewing current regulations to determine whether changes are needed to support the development of this new research and care model, including its critical privacy and participant protection framework.
  • Public-private partnerships: Strong partnerships will be forged among existing research cohorts, patient groups, and the private sector to develop the infrastructure that will be needed to expand cancer genomics, and to launch a voluntary million-person cohort.

Near-Term Goals

Expanding Efforts in Cancer

The PMI has a near-term focus on cancers because precision medicine focuses mainly on the genes, and cancer is a disease of the genome. Thanks to advances in DNA sequencing and efforts such as The Cancer Genome Atlas, there is better understanding of the molecular changes that drive many cancers.

One immediate goal will be to significantly expand efforts in cancer genomics to create prevention and treatment successes for more cancers. The Initiative will support clinical trials, in partnership with pharmaceutical companies, to test combinations of targeted therapies that are based on a tumor's molecular signature; develop solutions to drug resistance that commonly limit the effectiveness of targeted therapies; develop approaches that can assess response to therapy, and possible development of resistance, using "liquid biopsies" of blood plasma; and develop new tumor cell models to predict response to drug combinations and to define mechanisms of resistance.

Advance Precision Medicine To All Areas of Health

The PMI will build a comprehensive scientific knowledge base to put precision medicine into practice on a much larger scale. To achieve this goal, the Initiative will:

  1. Support a national network of scientists who possess the talent and skills to develop new approaches for answering critical scientific and medical questions.
  2. Launch a national cohort study of a million or more Americans to propel our understanding of health and disease. The goal is to set the foundation for a new way of doing research that fosters open, responsible data sharing with the highest regard to patient privacy, and that puts engaged participants at the center. Each voluntary participant will share their genomic information and biological specimens. This information, along with important clinical data from electronic health records, such as laboratory test results and MRI scans, and lifestyle data, such as calorie consumption and environmental exposures tracked through mobile health devices, will help researchers understand how genomic variations and other health factors affect the development of disease. Through the consent process, participants will control how the information is used in research and shared. As active participants, they also will have access to their own health data, as well as research using their data, to help inform their own health decisions. Through this dynamic community, researchers will be able to advance the information derived from this cohort into new knowledge, approaches, and treatments.

Scale and Scope

What makes the PMI different from other efforts is the recruitment of expertise from multiple sectors, and the anticipated scope of the endeavor. The Initiative will forge strong partnerships with existing cohorts, patient groups, and the private sector to capitalize on work already underway. By expanding on early successes in cancer genomics and partnering with more than a million participants nationwide to establish a national research cohort, the Initiative will set the foundation for new ways of engaging research participants, sharing health data and information, and employing technology advances to mine the information for comprehensive results.

A Role for Everyone

To be most effective and comprehensive, the PMI will engage partners across all communities—scientific, medical, health, and societal—and public as well as private sectors. The Precision Medicine Initiative will invite patients and patient advocacy organizations, academic medical centers, clinicians, scientists from multiple disciplines with creative ideas about how to make this unique opportunity successful, pharmaceutical companies and medical product developers, scientific societies and research coalitions, privacy experts, and medical ethicists.

Find Out More

Read More "NIH Precision Medicine Initiative" Articles

Precision Medicine: Healthcare Tailored to You / NIH Precision Medicine Initiative / Precision Medicine In Action

Fall 2015 Issue: Volume 10 Number 3 Page 19-21