Patient perspective helps shape Dr. Rebecca Sutphen’s hereditary cancer research
Genetic testing has been available since the mid-1990s to determine if a woman is likely to face one of her gender’s greatest fears: inherited breast and ovarian cancer. Yet, questions remain about whether common tests for the genes BRCA1 and BRCA2, which identify mutations that significantly increase a woman’s risk of breast and ovarian cancers, are reaching those who can most benefit and how the information learned from the testing is put to use.
USF Health medical and molecular geneticist Rebecca Sutphen, MD, a breast cancer and melanoma survivor, has broad expertise in genetic conditions affecting both adults and children. She has devoted much of her recent career working with Facing Our Risk of Cancer Empowered (FORCE), the leading national nonprofit advocacy organization for hereditary breast and ovarian cancer, to seek answers that will improve health outcomes of women at high risk for these cancers.
Dr. Sutphen’s research is guided in part by her own experiences as a patient, as well as Big Data’s emerging power to integrate electronic medical information and help build evidence about the effectiveness of clinical care. She emphasizes the need to ensure that patients help shape the investigative process. In addition to her academic work, she is the chief medical officer of InformedDNA, a national genetic services organization.
The National Cancer Institute estimates only 3 percent of adults with cancer participate in clinical trials, with members of racial and ethnic minorities and low-income individuals particularly underrepresented.
“If research started with the questions that patients want answered, it seems likely there would be more participation in clinical studies, and it would be more obvious to patients how the research is relevant to them,” said Dr. Sutphen, professor of genetics at the USF Health Morsani College of Medicine’s Health Informatics Institute.
Cancer studies still largely focus on determining what treatments contribute to longer life, she said.
“Obviously survival is very important, but patients with cancer often have several options for treatment. What we learn from patients is that they also care about maintaining quality of life – things like the ability to get in their cars and continue to go to the grocery store, or to sleep at night… So, how can we better tailor the treatment options available to match each individual’s preferences?”
USF helps lead way in BRCA testing and counseling
Dr. Sutphen, proficient in sign language, has a brother and sister who were both born deaf. She says her interest in genetics was sparked as a medical student when she accompanied her sister and her sister’s husband to Johns Hopkins medical genetics clinic for an evaluation of her 2-month-old nephew, also born deaf.
What the family learned about genetics and the probabilities of inheriting certain conditions was informative and fascinating, Dr. Sutphen said. “I saw genetics emerging as a new, growing area of science with the opportunity to impact the lives of people who really need information and can use it in a proactive way to make better decisions for themselves and their families.”
After earning an MD degree from Temple University School of Medicine, she completed a pediatrics residency at All Children’s Hospital in St. Petersburg and a fellowship in human genetics at USF. She is certified by the American Board of Medical Genetics in both clinical and molecular genetics.
In 1995 Dr. Sutphen joined the USF College of Medicine as a faculty member and shortly thereafter became the director of clinical genetics at All Children’s Hospital and at Moffitt Cancer Center. As BRCA testing became commercially available, she helped USF establish one of the first programs in the state to offer clinical genetic testing and counseling for cancer.
For the first time, a test could identify if a person had inherited a defect in BRCA1 or BRCA2, and therefore tell who was at greater susceptibility for developing breast and ovarian cancer. Also, even if a woman with the inherited mutation never developed cancer herself, she would know she had a 50 percent chance of passing down the mutation, and increased risk, to any offspring.
But many more questions could not be answered. Was the risk the same for everyone who inherited a mutation? Was there a certain age the cancer would be likely to emerge? Could anything modify the risk? Will intensive screening (mammograms, MRIs, ultrasounds) catch a cancer early enough? Should a woman have her breasts or ovaries removed?
“While there was great excitement about the clinical availability of this new testing, there was a huge gap in what we could tell people about their own particular situation and what to do about it,” Dr. Sutphen said.
Meeting begins enduring research collaboration, friendship
Dr. Sutphen began working with Distinguished University Health Professor Jeffrey Krischer, PhD, now director of the Health Informatics Institute, to develop NIH project proposals that would meaningfully address some of these unanswered questions. And in 2004, Dr. Sutphen invited Dr. Sue Friedman, founder and executive director of FORCE, to meet with the USF team to discuss how to best integrate “the patient voice and community” into the group’s hereditary cancer research.
After that initial meeting and learning about USF’s advanced health informatics capabilities, Dr. Friedman said, she quickly drafted a proposal to move her fledging nonprofit organization and family from South Florida to Tampa to work more closely with the USF team.
“When we first started looking at what a collaboration for hereditary breast and ovarian cancer research would look like, we included things like a yearly conference, a patient registry, research grants, writing a book. And, while there have been challenges along the way, in the last 12 years we’ve accomplished a lot of what we dreamed about and continue to build upon it,” Dr. Friedman said. “Aligning with USF has enhanced our organization’s ability to deliver meaningful research to the community, not just in terms of recruiting patients and reporting study results, but to actually help drive the research at every level.”
Along the way, Dr. Friedman, also a breast cancer survivor, and Dr. Sutphen became best friends as well research partners. “Rebecca has been visionary in recognizing the value of including health plan data in the research, and extraordinarily open to bringing in patients as equal stakeholders.”
Research and advocacy join forces
Combining their complementary expertise in research and advocacy, USF Health and FORCE have attracted several highly competitive grants. Currently, Dr. Sutphen is the lead investigator for two national research awards focused on hereditary breast and ovarian cancer research.
- Impact of BRCA Testing on Newly Diagnosed U.S. Breast Cancer Patients. This landmark study, supported by a $2.8-million NIH RO1 award, is conducted in collaboration with the commercial health insurance plan Aetna. Researchers previously examined de-identified data on thousands of Aetna members across the country who received BRCA testing and surveyed them about factors associated with the use of this testing including genetic counseling services. Now, analyzing de-identified health claims information, Dr. Sutphen and colleagues will track the outcomes of consenting patients with increased risk for breast and ovarian cancer syndrome — including what types of health care professionals the women saw and how the positive genetic test results affected their decisions about managing cancer risk (including preventive treatment options), which patients subsequently were diagnosed with cancer and their medical treatment choices.
“To date,” Dr. Sutphen said, “there has been no similar study evaluating the health outcomes of a national sample of women undergoing BRCA testing in community settings.”
- Patient-Powered Research Networks, American BRCA Outcomes and Utilization of Testing Network (ABOUT Network). The project, totaling $2.4-million in support from the Patient Centered Outcomes Research Institute (PCORI) for Phases I and II, continues the work led by USF and FORCE to advance a national patient-centered research network of individuals with hereditary breast and ovarian cancer. The ABOUT Network was created to identify this patient community’s unmet needs, promote their governance in research and focus on the questions and outcomes that matter most to patients and their caregivers. USF’s ABOUT patient-powered research network is one of 20 nationwide participating in PCORI’s initiative to help individuals access their electronic health records data through existing patient portals and share it for research that could improve care for their conditions.
“We are establishing mechanisms to allow any patient in the U.S. who has hereditary breast and ovarian cancer to participate in studies relevant to them,” Dr. Sutphen said. “Harnessing the power of Big Data with guidance from patients enables a scale of research never before possible.”
Some early findings have begun to be disseminated. In a study published last year in JAMA Oncology, which attracted national media attention, Dr. Sutphen and co-authors found that most women who underwent BRCA testing did not receive genetic counseling by trained genetics professionals — and lack of physician recommendation was the most commonly reported reason. Yet, those who did get this clinical service before testing were more knowledgeable about BRCA and reported more understanding and satisfaction than women who did not.
This demonstrates gaps in services to be addressed, Dr. Sutphen said, because consultation with a trained genetics clinician is widely available (by phone or in person) and now covered as a preventive health service by most insurers with no out-of-pocket costs to patients.
Researcher confronts breast cancer as patient
Dr. Sutphen was diagnosed with breast cancer in 2008, following a routine mammogram. She was premenopausal and had no family history of cancer. The radiologist who read her mammogram, a colleague, pulled her out of clinic at the Moffitt Lifetime Cancer Screening Center to alert her to the abnormality on her X-ray. The biopsy confirmed early-stage breast cancer.
“I was shocked,” she said. “I remember the part of the conversation ‘you have cancer,” seeing the doctor’s mouth moving and then not hearing any words after that.”
She called her best friend Sue Friedman, herself a breast cancer survivor, for support and after careful consideration of her treatment options decided to undergo a bilateral mastectomy with reconstruction. The choice worked well for her, Dr. Sutphen said, but another friend with the same type of breast cancer chose lumpectomy instead.
“The first thing to look at is whether the likelihood for a recurrence of the cancer is the same if you have a lumpectomy or a mastectomy – and if the answer is yes, then beyond that it’s a matter of personal preference,” Dr. Sutphen said. “So, two people can make very different choices, but the right choice for each of them.”
In 2013, after having a “mole that looked different” on her arm checked out, Dr. Sutphen was diagnosed and treated for melanoma.
Her own experiences as a two-time cancer survivor have added perspective to her research, Dr. Sutphen said. “It really emphasized to me just what it’s like to be a patient, how difficult the decisions are to make, and how challenging your emotional state becomes.”
To make the often confusing and complex journey a little easier for patients and their families, Dr. Friedman and Dr. Sutphen collaborated with freelance writer Kathy Steligo on a book titled Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your Options, Change Your Destiny. They wanted to integrate into one book the latest evidence-based information to help women with cancer-susceptibility genes maximize their long-term survival and quality of life.
“The book was published in 2012, but it’s still 95 percent relevant today,” she said.
Something you may not know about Dr. Sutphen
Dr. Sutphen was named one of the top 10 cancer medical geneticists in the United States in Newsweek’s “Top Cancer Doctors 2015” list. In 2012, she was selected by TEDMED to be the advocate leading its “Shaping the Future of Personalized Medicine” program, part of the Top 20 Great Challenges annual conference.
For many years she enjoyed the scenic adventure of flying paraplanes, or powered parachutes, ultralight aircraft with a motor, wheels and a parachute. But these days Dr. Sutphen prefers remaining on the ground to cheer on daughter Serenity, 11, a horseback rider who competes in barrel racing.
Photos by Eric Younghans, and audioclips by Sandra C. Roa, USF Health Communications