Patient Perspective
Engagement, Education, Trust: Three Key Elements Needed for Disparities and Genomic Research Progress

Phyllis Pettit Nassi works in Prevention & Outreach as Manager of Special Populations and Native American Outreach at Huntsman Cancer Institute in Salt Lake City, Utah.

Patient Perspective
What Do Patients Know About Cancer Genomics and Personalized Medicine?

“The goal of getting your genome done is not to tell you what you will die from . . . it’s how to take action to prevent disease.” – George M. Church, M.D., Ph.D. (in “On a Mission to Sequence the Genomes of 100,000 People” by David Duncan, 6/7/10, New York Times.)

Patient Perspective
Engagement, Education, Trust: Three Key Elements Needed for Disparities and Genomic Research Progress

Phyllis Pettit Nassi, MSW

Phyllis Pettit Nassi works in Prevention & Outreach as Manager of Special Populations and Native American Outreach at Huntsman Cancer Institute in Salt Lake City, Utah. As a cancer advocate for underserved communities, Phyllis uses outreach to raise awareness of cancer, cancer research, and clinical trials within poor communities. Her efforts cross a wide spectrum, from providing patients and their families with easy-to-understand educational materials to bringing the underserved patients' perspective to the realm of cancer research by sharing their collective issues with researchers and legislators. In the April 2011 issue of Office of Cancer Genomics e-News, Phyllis contributed her perspective on a studyOpens in a New Tab by TARGET pediatric researchers which uncovered a link between Native American ancestry and increased risk of relapse of childhood acute lymphoblastic leukemia. Her writing is a reflection of her experience working as the Manager of Special Populations and Native American Outreach and serving on various committees, but does not reflect the views of the Huntsman Cancer Institute.

In his commentaryOpens in a New Tab in Nature (2004) on the "Human Genome Variations and 'Race:' The State of Science" meeting, Dr. Francis S. Collins, director of the National Institutes of Health, poses a number of important questions.

Included among them are:

  • "What does the current body of scientific information say about the connections among race, ethnicity, genetics and health?"
  • "…will [genetics] explain a substantial proportion of health disparities for most common diseases…?"
  • "What additional research is needed?"

Seven years later, I realize that we remain far from clear-cut answers to these questions, particularly as I ponder how they relate to health disparities in cancer research. I believe one key reason why we are without answers is because unfortunately, most clinical trials are conducted in patient populations that don't reflect the full range of ethnic and socioeconomic backgrounds.

Including underserved communities in cancer genomics research is oftentimes challenging, but it is most certainly possible. In my experience with Native American outreach, the willingness to take the time to engage tribal nations -- or any underserved population for that matter — as true research partners is invaluable. We must invite these populations to be at the table from the very beginning and continuously provide them with services throughout.

Many underserved patients lack the exposure and education needed to understand basic biological concepts. During my time working with Native American cancer patients and their extended network of family and health care professionals, I found that few know what a gene is, let alone a genome. Understandable information about all major aspects of the cancer research project is critical to educating these underserved populations. With this knowledge, they are empowered to make informed choices about participation in research and treatment options. In order for minority populations to reap the desired the therapeutic benefits of advances in genomics and pharmacogenomics cancer research, educational programs must be targeted to reach them. They desire the beneficial outcomes of new research findings after learning of them but cannot ask for something they aren't aware of.

Lastly, we must establish a relationship of trust by encouraging researchers to focus on how research findings may impact cultural and societal aspects of tribal nations or other underserved populations. This trust benefits the underserved and ultimately the research, which will in turn, eventually lead us to the answers we have been awaiting.

Patient Perspective
What Do Patients Know About Cancer Genomics and Personalized Medicine?

Judith Ebbert-Syfrett, M.P.H., B.S., R.N.
“The goal of getting your genome done is not to tell you what you will die from . . . it’s how to take action to prevent disease.”
– George M. Church, M.D., Ph.D. (in “On a Mission to Sequence the Genomes of 100,000 People” by David Duncan, 6/7/10, New York Times.)

Although few studies have measured patients’ knowledge of cancer genomics, it may be safe to assume that most people need to learn more about cancer genomics and personalized medicine. A study of nearly 2,000 persons with chronic disease in the Netherlands by Morrena et al. (2006)[1] found that although most participants felt genetics would lead to advances, the majority, mostly older and less-educated persons, believed they had insufficient knowledge. Since cancer risk increases with age, the fact that older people may be the least informed about cancer genomics is cause for concern.

Everyone should make an effort to learn about the potential for genetics (the study of genes and heredity) and cancer genomics (the study of the human cancer genome) to improve outcomes related to the prevention and treatment of cancer. People need to understand that their own genetic design is unique, and that their individualized gene pattern can help predict risk for cancer as well as potential response to treatment. They need to understand that expecting the same drug to produce the same result in every patient is an oversimplified approach that is evolving toward genomics-guided personalized treatment decisions. They need to know that cancer genomics is exciting for its fast-growing potential to help oncologists make individualized treatment decisions with better outcomes.

If patients are uninformed about genomics, what should they know and where should they go to learn about it? An Internet search for a simple definition of genomics clarifies just how challenging it is to answer this question. We have much to do not only to simplify cancer genomics resources on the internet, but also to create resources for people who don’t use computers.

What can we tell patients who worry about confidentiality and safety? We can honestly say that laboratory advances are reinforced by policies that protect patients from employer and insurer discrimination via passage of the Genetic Information Nondiscrimination Act in 2008. We can assure patients that the Health Insurance Portability and Accountability Act (HIPAA) of 1996 continues to ensure the privacy of medical records, test results, and risk assessments.

As one who supports cancer genomics research on a daily basis at a comprehensive cancer center, I see how far-reaching these advances can and will be. I also see clearly that cancer genomics advances and protective policies are outpacing public awareness, compelling us to focus energy and funds on lay education. As science soars ahead, so too must our commitment to the beneficiaries of this bold innovation. We owe patients the education that will empower them to make informed, potentially life-changing decisions.

Judith Ebbert-Syfrett, M.P.H, B.S., R.N., a doctoral student in the College of Public Health at the University of South Florida, is the Women’s Oncology Research Project Manager at H. Lee Moffitt Cancer Center & Research Institute in Tampa, Fla.

The NCI Office of Cancer Genomics (OCG) is a useful resource for patients who seek information on the genomic science that is being performed in cancer laboratories worldwide. The OCG e-News online newsletter highlights valuable patient resources that include the perspectives of patient advocates and cancer genetics experts, information on accessible genomics data, and several NCI genomics projects.

[1] Morrena, M., Rijkena, M., Baandersab, A.N., & Bensigna, J. (2006). Perceived genetic knowledge, attitudes towards genetic testing, and the relationship between these among patients with a chronic disease. Patient Education and Counseling, 65(2): 197-204.