In the laboratory and the clinic, Dr. Thomas McDonald focuses on inherited heart diseases that can lead to potentially deadly heart rhythm disturbances

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Sudden cardiac death most often makes the news when athletes in peak physical condition collapse and die while exercising or competing.  This spring, Zeke Upshaw, 26, a basketball player for the Grand Rapids Drive, a G-league affiliate of the Detroit Pistons, collapsed face-down on home court during the final minute of a game and later died at the hospital. A medical examiner ruled that he had suffered sudden cardiac death.

“Sudden cardiac death is when someone, usually otherwise healthy and often young, tragically drops dead – without any warning,” said Thomas V. McDonald, MD, a professor in the USF Health Department of Cardiovascular Sciences.

Most of the 200,000 to 450,000 sudden cardiac deaths each year in United States are caused by heart rhythm disturbances  provoked by certain strenuous activities, prescription medications, recreational drugs, or other triggers. “Sometimes it just happens in your sleep.  The most severe and earliest form would be sudden infant death, or SIDS,” Dr. McDonald said.

Physician-scientist Thomas McDonald, MD, a professor in the USF Health Department of Cardiovascular Sciences and member of the USF Health Heart Institute, with his laboratory team.

Dr. McDonald was recruited to the USF Health Heart Institute in October 2017 from Albert Einstein College of Medicine in New York City, where he was a professor of both cardiology and molecular pharmacology. He also co-directed the thriving Montefiore-Einstein Clinic for CardioGenetics, the first such interdisciplinary clinic in metropolitan New York for families at risk of sudden cardiac death from arrhythmias.

At USF Health his laboratory continues to focus on the fundamental causes of heart conditions passed from one generation to the next — and what can be done to help prevent disease and its consequences.  The hereditary conditions he studies include those affecting the heart’s electrical system to cause arrhythmias, like long QT syndrome and Brugada syndrome, and those affecting heart muscle, such as hypertrophic cardiomyopathy and dilated cardiomyopathy.  While rare, these conditions can substantially increase an individual’s risk for sudden cardiac death and devastate families.

In long QT syndrome, the heart takes longer than normal to recharge between beats. This electrical disturbance, called a prolonged QT interval, can often be seen on an electrocardiogram (ECG) like the one pictured here.

Dr. McDonald has also started a USF Health Cardiogenetics Clinic, modeled after the Montefiore-Einstein center he co-founded, to evaluate and treat families in which members succumb to unexplained sudden cardiac death or SIDS, or where suspicion of an underlying, hereditary heart rhythm disturbance exists.

His work bridging the laboratory and clinic has implications for a much larger population than people with relatively rare inherited cardiac disorders.  Dr. McDonald points to growing evidence of the interplay between genetics and environmental factors like diet, exercise and stress.

“By studying these rare or uncommon cardiac diseases,” he said, “we may uncover more generalizable biochemical pathways that could be influenced to harm the heart given the wrong environment — even in genetically unaffected families.”

 Studying uncommon (inherited) heart diseases to gain better insight into more common ones.

Dr. McDonald lifts a container including pluripotent stem cells from storage in liquid oxygen. Alexander Bertalovitz, PhD, (right) an assistant professor of cardiovascular sciences who helps manage the cardiogenetics laboratory, followed Dr. McDonald to USF Health from Albert Einstein College of Medicine in New York City.

Pinpointing the meaning of genetic variants of “unknown significance”

Dr. McDonald analyzes genetic changes, or mutations, which may lead to malfunctioning of ion channels that create electrical signals in the heart.

His team has spent the last few years characterizing the function of 1,000 different mutations found in cardiac ion channel genes associated with hereditary rhythm conditions such as long QT syndrome and Brugada syndrome. The researchers recreate the genetic variations in a cellular model and use automated electrophysiology techniques to analyze how the mutations affect the ion channel’s ability to correctly generate each heartbeat. All these variations have been cited in published scientific literature; however, it is still largely unclear which ones truly increase the risk of abnormal rhythms leading to palpitations, seizures, fainting or sudden death – and which are benign.

The research project is supported by a five-year, $1.7 million R01 grant from the NIH’s National Health, Lung and Blood Institute.

“Our ultimate goal is to work with other investigators to create a NIH-curated public database that physicians and genetic counselors could access to find out whether a genetic variant is likely, or unlikely, to cause a potentially life-threatening heart rhythm disturbance in a patient or their family members,” Dr. McDonald said.

As genetic testing is becomes more common, a growing challenge is that lab reports of people referred for DNA sequence testing often come back listing many “variants of unknown significance,” Dr. McDonald said. “That drives physicians and patients crazy because they don’t know what that means… what do they do with that information?”

Dr. McDonald with Jiajia Yang, a PhD student in the Department of Molecular Pharmacology and Physiology.

An important step toward improving the guidance that doctors offer individuals with inherited heart disorders would be the ability to more precisely distinguish between disease-causing mutations and mutations with little or no harmful physiological effects through a resource like a scientifically validated database, he added.

Recommended treatment options for long QT are life-long and vary, including regular cardiac monitoring, taking medication such as beta blockers, restricting strenuous sports activities, or sometimes implanting pacemakers or defibrillators to help control abnormal heartbeats.  So, for example, if DNA testing of a child or young adult revealed a long QT genetic variation characterized as having little risk of leading to sudden cardiac death, prescribing beta blockers and routine cardiac monitoring might be the best preventive therapy – avoiding the long-term management and small, but real, lifetime risk of complications from an implantable device.

 Dr. McDonald comments on the focus of his laboratory’s research on genetic variations.

Opening Tampa Bay region’s first CardioGenetics Clinic

The twice-monthly Cardiogenetics Clinic, which opened in March, is held at USF Health Cardiology’s Armenia Avenue location. The new clinic is staffed by a team with the expertise to address the diverse medical, psychological, social and ethical issues arising when evaluating genetic heart conditions that predispose patients to sudden cardiac death.

Dr. McDonald — with certified genetic counselor Melissa Racobaldo (far left) and clinical geneticist Christopher Griffith, MD — leads a comprehensive discussion of family medical history with a patient and his mother referred to the USF Health Cardiogenetics Clinic.

“When I arrived there was no formal cardiogenetics program in the greater metropolitan area of Tampa Bay where 4 million people live — so the prospect of building one from scratch was very attractive,” said Dr. McDonald, who specializes in adult cardiology. He leads the clinic working with USF Health faculty members Christopher Griffith, MD, assistant professor of pediatrics and a clinical geneticist; and Melissa Racobaldo, a genetic counselor; as well as Gary Stapleton, MD, a pediatric interventional cardiologist from Johns Hopkins All Children’s Hospital. USF College of Public Health students specializing in genetic counseling are expected to join the clinic in coming months.

Many with congenital cardiac conditions have no signs or symptoms. Patients and their families referred to the clinic typically have experienced a history of arrhythmias or other cardiac events, or suffered the unexpected death of a loved one.

During the initial visit, families meet with team members for a cardiac history and examination, review of medical records and/or autopsy reports, and baseline tests that include an electrocardiogram and echocardiogram.  Based on the family’s medical history, a tree-like chart known as the DNA pedigree is created to identify familial genetic patterns and sudden unexpected deaths linked to cardiac disorders.  “The most important genetic test is still a complete family history,” Dr. McDonald said.

Certified genetic counselor Melissa Racobaldo consults with Dr. McDonald about a patient.

DNA testing is usually only recommended when the team discerns that the pattern of cardiac-related events is highly likely to be genetic rather than environmental.  For instance, a family history indicating that a few relatives died from heart disease in their 80s might be considered environmental.

If a mutation is found in one of the genes known to be associated with a dangerous cardiac arrhythmia, then the first (affected) patient who got tested receives immediate counseling by a cardiologist, and genetic testing and counseling will be offered to all at-risk relatives. Different heart rhythm genetic mutations have different effects on ion channels, so individualized remedies are required.

“Genetics is still quite complex to most people, so we try to make our explanations understandable and not so scary,” said Dr. McDonald, who has co-authored several articles on how patients are affected by cardiogenetic testing, including in the journals Qualitative Health Research and Personalized Medicine.

“Our dominant message is ‘we’re here to provide information, which gives you knowledge, and knowledge gives you power to manage your life and to help the next generation.”

A pedigree, which depicts the relationship between individuals and relevant facts about their medical histories, can be used to help understand the transmission of genes within the family. Dr. McDonald points to a square indicating the presence of a particular genetic trait in a male.

The Cardiogenetics Clinic will offer patients access to the latest clinical trials for new drugs or devices. Dr. McDonald was recently named USF site lead investigator for a world-wide Phase 3 study testing the effect on walking endurance of an investigational medication for patients with dilated cardiomyopathy caused by a rare genetic mutation. This form of heart disease, in which inadequate pumping of blood causes the heart to become weaker, can lead to heart failure.

“Heart in a dish” as a drug screening tool

Interested in drug discovery for inherited heart diseases lacking effective medications, Dr. McDonald’s lab has begun collecting blood cells from USF Health cardiomyopathy patients who provide informed consent.

The adult blood cells can be genetically reprogrammed into induced pluripotent stem cells (iPSCs) with the potential to develop into any cell type in the body, including heart cells.  The goal is to model the early stages of inherited heart disease with patient-specific cells grown in a petri dish, working out at a molecular level how the disease does its damage to heart muscle.

 On the horizon: Modeling inherited heart diseases using pluripotent stem cells

Dr. McDonald and Maliheh Najari Beidokhti, PhD, a postdoctoral associate in the Department of Cardiovascular Sciences.

“Once you do that,” Dr. McDonald said, “you can use the ‘heart disease in a cell culture dish’ to screen any number of drugs or chemical compounds for their potential therapeutic benefit.”

Dr. McDonald is also collaborating with colleagues in the USF Health Department of Neurology to look at rare genetic mutations for nervous system diseases, such as certain types of muscular dystrophy and ataxias, which can lead to severe heart damage,

Dr. McDonald received his bachelor’s degree in zoology from USF in 1977 and MD degree from the University of Florida.  He completed a residency in medicine and research fellowship in cardiology at Columbia-Presbyterian Medical Center in New York City. At Stanford University School of Medicine, he conducted fellowships in clinical cardiology and interventional cardiology, as well as a postdoctoral research fellowship. He spent 22 years as a faculty member at Albert Einstein College of Medicine before joining the USF Health Morsani College of Medicine last fall.

Continuously funded throughout his career by the NIH or the American Heart Association (AHA), Dr. McDonald has authored more than 70 peer-reviewed publications.   Among his many high-impact papers was a 2013 article published in FASEB.  The NIH-supported study was among the first to report that synonymous (silent) changes in DNA traditionally considered neutral may adversely affect the processing speed and efficiency of ion channels associated with the heart arrhythmia syndrome Long QT and alter disease severity.

Dr. McDonald has served on multiple study sections of the NIH and AHA. He was elected in 2011 as an AHA Fellow-Basic Cardiovascular Sciences Council.

Dr. McDonald says his clinical practice helps inform and complement the translational science he conducts in the laboratory.

Some things you may not know about Dr. McDonald

• During high school, he worked one year as a head cook for a restaurant in Winter Park, Fla., before entering college. “It made me realize that hard work is important, but also motivated me to study so I could make a living by using my head more than my hands.”
• Wife Kami Kim, MD, also a USF Health physician-scientist, is a professor with joint appointments in the Department of Internal Medicine and in the Department of Global Health. They met in the cardiac intensive care unit at Columbia Presbyterian Medical Center when Dr. McDonald was a resident and Dr. Kim was rounding as a medical student.  Their two sons, both studying theoretical math, are Clayton, 24, a PhD student at Boston College, and Vaughan, 20, starting his junior year at Harvard University.
• McDonald enjoys bicycling, Japanese cooking, and nearly exclusively reads fiction – “it’s another window on the human condition.” His two favorite books are One Hundred Years of Solitude, an acclaimed novel by Nobel Prize-winning Latin-American author Gabriel García Márquez, and Infinite Jest, a literary bestseller and unconventional comedy by David Foster Wallace.

-Video and photos by Torie M. Doll, USF Health Communications and Marketing

USF Health clinical and molecular geneticist Rebecca Sutphen, MD, has survived breast cancer and melanoma.

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?”

 Dr. Sutphen discusses the powerful potential of Big Data.

Dr. Sutphen works out of the Morsani College of Medicine’s Health Informatics Institute led by Jeffrey Krischer, PhD. She is pictured here with clinical research associate Beth Ann Clark, right.

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.

 Dr. Sutphen comments on engaging patients in the research process.

In the 1990s, Dr. Sutphen helped USF establish one of the first programs in the state to offer clinical genetic testing and counseling for hereditary breast and ovarian cancer.

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.”

Sue Friedman (left), founder and executive director of Facing Our Risk of Cancer Empowered, or FORCE, and USF’s Dr. Sutphen have worked together for the last 12 years. They have become friends who share a commitment to making patients equal stakeholders in driving hereditary cancer research.

 Inherited breast and ovarian cancer community’s influence on personalized medicine.

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.

 Dr. Sutphen talks about her breast cancer diagnosis.

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.

Dr. Sutphen with her daughter Serenity, 11.

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

Study identifies gaps in clinical genetic counseling services for women undergoing BRCA genetic testing

Tampa, FL (Oct. 1, 2015) – A University of South Florida-led research collaboration with Aetna, the American Cancer Society and the national non-profit Facing Our Risk of Cancer Empowered (FORCE) today published results from a national study identifying factors and outcomes associated with the use of genetic counseling and testing services for hereditary breast and ovarian cancer in the community setting. The work is reported today in the Journal of the American Medical Association – Oncology and indicates a significant opportunity to increase genetic counseling in community care.

The investigative team for the ABOUT Study (American BRCA Outcomes and Utilization of Testing Study), led by principal investigator Rebecca Sutphen, MD, professor of genetics at the USF Health Morsani College of Medicine, analyzed data from a consecutive series of women whose health care providers requested BRCA testing through the national health insurer, Aetna,  over a one-year period.

Rebecca Sutphen, MD, professor of genetics at the USF Health Morsani College of Medicine, was principal investigator of the study conducted with Aetna, the American Cancer Society and the national non-profit Facing Our Risk of Cancer Empowered (FORCE).

The guidelines of multiple medical professional societies and health authorities indicate that genetic counseling should precede a decision to undergo BRCA testing.  Despite this guidance, only 36.8 percent of the 3,874 female participants in this study reported receiving genetic counseling from a genetics clinician before BRCA genetic testing.  Importantly, those who received this service demonstrated greater knowledge about BRCA, including risk factors and treatment options. They also expressed greater understanding of and satisfaction with the information they received prior to testing.  The proportion of women receiving the service varied significantly based on the specialty of the provider ordering the test, with the lowest rates among Obstetrician/Gynecologists (12.3 percent).

“The ABOUT Study offers a rare opportunity to study the self-reported experiences of women undergoing testing in the community setting where most people receive their care.  Although we found that most women did not receive genetic counseling by a genetics professional, this is a gap in services that can be addressed,” Sutphen said.

Genetic counseling to support BRCA testing is a preventive service that is covered with no out-of-pocket costs for most women with a family history of breast or ovarian cancer.

“Comprehensive genetic counseling about BRCA mutation testing is important for individuals to understand their cancer risk. The information obtained from genetic counseling empowers individuals as well as current and future generations of their families to make informed decisions about screening, risk reduction, and treatment options,” said Joanne Armstrong, MD, senior medical director and head of Women’s Health for Aetna.

The ABOUT Study was supported by funding from the Aetna Foundation, as well as in-kind support from the American Cancer Society, FORCE and Aetna.

Article Citation:
Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, Lynch K, Andrews JE, Aguado Loi CX, Bauer JE, Casares C, Bourquardez Clark E, Kondoff MR, Molina AD, Abdollahian M, Walker G, Sutphen R:  Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: The ABOUT Study.  JAMA Oncology, Oct. 1, 2015. 

About USF Health
USF Health’s mission is to envision and implement the future of health. It is the partnership of the USF Health Morsani College of Medicine, the College of Nursing, the College of Public Health, the College of Pharmacy, the School of Physical Therapy and Rehabilitation Sciences, and the USF Physician’s Group. The University of South Florida is a Top 50 research university in total research expenditures among both public and private institutions nationwide, according to the National Science Foundation.  For more information, visit www.health.usf.edu

About Aetna
Aetna is one of the nation’s leading diversified health care benefits companies, serving an estimated 46.7 million people with information and resources to help them make better informed decisions about their health care. Aetna offers a broad range of traditional, voluntary and consumer-directed health insurance products and related services, including medical, pharmacy, dental, behavioral health, group life and disability plans, and medical management capabilities, Medicaid health care management services, workers’ compensation administrative services and health information technology products and services. Aetna’s customers include employer groups, individuals, college students, part-time and hourly workers, health plans, health care providers, governmental units, government-sponsored plans, labor groups and expatriates. For more information, see www.aetna.com and learn about how Aetna is helping to build a healthier world. @AetnaNews

 Media contacts:
Anne DeLotto Baier, USF Health Communications, abaier@health.usf.edu or 813-974-3303
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