Throughout the world, breast cancer is the leading cancer diagnosis in women. In 2008, the World Health Organization estimated 1,384,155 new cases globally. In 2012, more than 229,000 new cases were expected to be diagnosed in the United States. Despite recent advances in diagnosis and treatment, more than 39,920 patients were expected to die from breast cancer in 2012 in the United States.
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“Personalized medicine” and genetics have been intertwined with oncology since the 1990s, when Myriad Genetics first introduced BRACAnalysis. Recent advancements in genomic research, though, highlight the growing intimacy and complexity of genetics’ role in the future of oncology and suggest an impending need for advanced genetics training.
Clinical cancer genetics has traditionally been an academic pursuit involving Mendelian syndromes representing a small fraction of adult disease. The genetic concepts were very basic: Genes have mutations that lead to incorrect versions of proteins required for maintaining the delicate checks and balances of human cells. Oncologists could easily understand the ideas without further training in genetics.
The burst of development in medical genetics through this decade, however, will shortly demand a much more nuanced understanding from oncologists. For example, over 10 percent of NHGRI-catalogued genome-wide association studies (GWAS) examine polymorphisms associated with cancer, yet interpreting the clinical relevance of significant results requires knowledge of linkage disequilibrium and population stratification. Next-generation sequencing, another example, will soon be ready for clinical use but will necessitate a working knowledge of genomics and epigenetics to parse the results. Even simple explanations to patients of third-party testing, such as from 23andMe, requires an advanced ability to interpret the underlying genetic studies.
While the issue of advanced training in genetics for oncologists is not new, it has not yet been fully addressed. A 2007 survey of 2,000 ASCO members noted continued desire for education in genetic testing, and ASCO recommendations from 2010 specifically highlight the need for GWAS education (1). Physician barriers highlighted in a 2011 CA article include: limited knowledge of referrals, time constraints, low practice priority, and misperceptions regarding genetic testing (2).
Oncologists have always been leaders in medicine, from collaboration in tumor boards to incorporation of palliative care. It is no longer enough to have a working grasp of genetic concepts as taught in a few fellowship lectures. Oncologists, in particular, have a clear need to obtain advanced training in genetics and must establish educational systems for genetics while the field remains nascent.
(1) Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010 Feb 10;28(5):893-901. doi: 10.1200/JCO.2009.27.0660. Epub 2010 Jan 11
(2) Weitzel, J. N., Blazer, K. R., MacDonald, D. J., Culver, J. O. and Offit, K. (2011), Genetics, genomics, and cancer risk assessment. CA: A Cancer Journal for Clinicians, 61: 327–359. doi: 10.3322/caac.20128
Sheila is a 4th year medical student at Columbia’s College of Physicians and Surgeons and is currently on a year off pursuing an MPH in Quantitative Methods at the Harvard School of Public Health. She intends to become an academic oncologist specializing in clinical cancer genetics and risk assessment.
My friend, Brandon, told me about a patient he cared for, Tom. As a 54-year-old farm hand, Tom is solidly built with leathery skin and hulking hands from all his days working the fields. As tough as he is, even he came into the hospital with severe belly-pain, nausea, vomiting, and the inability to use the bathroom. The medical team found a mass in Tom’s bladder. Unfortunately, Tom had cancer.
His medical team came up with a treatment plan, but Tom was drowning in medical bills. Tom worked hard all of his life, paid taxes, and has taken personal responsibility for himself as Tom leads an active lifestyle and does not smoke, which is a leading risk factor in developing bladder cancer. His story is not unique but rather a growing norm. In the U.S. and abroad, many are uninsured or underinsured because of rising insurance and healthcare costs. Tom and others often have to choose between their lives and mortgaging their family’s future including life-savings and college funds.
The biggest issue facing the future of cancer care is applying health services and policy research so that there are policies in place to most efficiently deliver and scale-up cancer care. There have been so many advances that we better understand cancer on a genetic level and an epidemiologic level but do we understand the delivery of cancer care at a systems level? One out of two men and one out of three women in the U.S.A. will develop cancer, and all of these individuals need care. Globally, as populations live longer a similar lifetime risk looms. Is the best investment of our resources in primary radiotherapy and hormone treatment or robotic prostatectomy for each gradation of prostate cancer? Is proton beam therapy more efficacious?
Along with universal coverage, we need cost-effectiveness and comparative effectiveness research to dictate health policy concerning treatment and prevention strategies to change our current path. Both in the U.S. and globally, we are using more and more resources on healthcare but still have countless like Tom, forced to choose between personal health and a family’s future.
Ravi is a student earning his MD from Vanderbilt University as a Canby Robinson Scholar and he earned an MPH in Health Policy and Management from Harvard University. He will be pursuing a career in Health Policy and Management as well as a clinical career in Ophthalmology possibly retina and ocular oncology as a Resident in ophthalmology at Yale University. Ravi’s goal is to combine health policy, management, and clinical medicine to better deliver care to patients in the U.S. and abroad.
by Jonathan Klein, MD
Throughout medical training, two approaches to practice are consistently emphasized: evidence-based and patient-centred medicine. At first blush, the themes seem eminently reconcilable. Evidence-based practice stresses that treatment recommendations derive from properly conducted trials based on sound science; unproven treatments not be recommended (except in exceptional circumstances); and new development should be compared with previous standards to determine its place in clinical practice.
This talk was given by Dr. Phil Gold to the Class of 2015 of the Faculty of Medicine, McGill University on September 28th, 2012. It was presented at the ‘White Coat Ceremony’ for the students in their second year. The ceremony celebrates the transition of their medical education from the classroom to the wards of the hospital.
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