Kevin Hughes, M.D., director of Cancer Genetics at MUSC Hollings Cancer Center and the Rose McKoy Jr. M.D. Endowed Chair in Surgical Oncology, believes strongly in using genetic testing to identify patients at high risk of cancer before cancer occurs. Hughes is an internationally recognized expert in genetic testing and the identification and management of patients with hereditary cancer risk. He leads the Hollings Hereditary Cancer Clinic, which is one of the first in the nation, designed to care more effectively for patients with genetic mutations. Hughes said the clinic will provide patients with a centralized location for ongoing care that offers them comprehensive and effective management from a team of specialists and builds on the existing expertise at Hollings.
Likewise, the High-Risk Breast Evaluation Program continues to assess and manage patients whose risk of breast cancer is elevated while the Cancer Genetic Counselor Program oversees testing to identify patients who have cancer-causing mutations in specific genes. Once risks and/or genetic mutations are identified, the new Hereditary Cancer Clinic will complete the picture by caring more effectively for these patients, offering more precise cancer care and better long-term planning for their health through genetic counseling and cancer prevention and surveillance with cancer experts.
“Patients and their families with a hereditary risk for cancer are frequently left with an underlying sense of anxiety, searching for a pathway for personalizing their screenings, mitigating their risks and getting the best possible treatments,” said Prabhakar Baliga, M.D., chairman of the Department of Surgery. “We are fortunate to have recruited Dr. Hughes, a world-renowned authority in cancer genetics, who will lead the effort to deliver precision cancer care into clinical practice for South Carolinians at risk of hereditary cancer.”
Hughes said precision cancer care has come a long way over the past quarter century. In 1996, BRCA 1/2 mutation screening became the first genetic test for cancer risk available as a clinical service. Today, genetic testing at MUSC Health can test 84 cancer genes simultaneously, providing more targeted cancer care for a wide range of cancers.
Hughes explained that genetic testing is now something that most physicians can do with a small amount of training. But when the test result comes back and finds that the patient is positive for a genetic mutation, that patient needs to have someone who’s very familiar with that mutation, what cancers it increases risk for, how high that risk is and how best to minimize that risk.
“Based on the results of the testing, patients identified as high risk for specific types of hereditary cancer can be cared for with a highly specialized plan targeted for each patient’s specific mutation and the clinical situation of that patient. Since each gene mutation is related to its own set of cancers, each cancer has a gene-specific level of risk, and each patient has his or her own specific clinical situation; the treatment plan must be unique for each patient and span that patient’s lifetime,” said Hughes.
Once a plan is developed at the Hereditary Cancer Clinic, housed within the National Cancer Institute (NCI)-designated Hollings Cancer Center, the patient is referred to a multidisciplinary team of oncologic specialists specific to manage his or her cancer risk. The Hereditary Cancer Clinic team monitors the patient for continuity of the plan they developed. Dedicated to a family-centric approach, the team also reaches out to the patient’s relatives who may have a similar mutation.
Hollings genetic counseling services include cascade testing – genetic counseling and testing provided to blood relatives of patients identified with specific genetic mutations. “The team can help to identify these family members who need testing, and if they are local, we will be able to take care of them,” Hughes explained. “For family members in other parts of the country, we can help them to get tested in their locations.”
Hughes said that gathering the necessary information for this type of testing is time-consuming both for referring providers and genetic counselors. With the anticipated increase in demand for genetic testing, he and his team are developing ways to streamline the process. Based on cancer-risk assessment software that Hughes helped to develop, MUSC Health has access to an innovative platform for screening, tracking and managing at-risk patients. The software is extremely helpful in identifying patients – and their relatives – who can benefit from precision cancer care.
Using this process, a patient inputs his family health history, and the software performs a risk assessment. If he meets the criteria for genetic testing, the software generates a test requisition form with all the information needed, including a pedigree chart to illustrate the family health history, meeting National Comprehensive Cancer Network Genetic Testing guidelines. With all of the supporting documents embedded in the referral, the insurance carrier is more likely to cover the cost of the test without delays or time-consuming requests for additional information.
Hughes estimated that if the provider were to compile and complete all of this documentation, it could take over 30 minutes per patient. “For a busy provider who sees several patients each week who could benefit from genetic testing, the added work becomes insurmountable,” he explained. “The goal is to simplify the process, making it easy for the providers who typically screen for cancers, such as primary care providers, obstetricians, gynecologists and GI specialists, to get genetic testing done.”
Hughes said that in an ideal world, he would recommend a risk assessment for every patient at age 25, suggesting 25 because it’s the age where cancer rates start to go up for certain gene mutations. It is estimated that for each patient who completes the family history, about 10% to 15% of the population will be identified as meeting the criteria for testing, adding that several of the genes being tested not only cause cancer but can also cause genetic conditions in newborns.
For patients with those specific gene mutations, the specialists not only review the risks of cancer with them, but they can also advise patients to let any relatives who are planning on having children know to get tested for the gene mutation as well. With testing before pregnancy, many of these conditions can be prevented or mitigated at the earliest time possible.
Hughes is also excited about MUSC’s In Our DNA SC community health research program. It’s a statewide initiative being launched in partnership with Helix, a leading population genomics company. It aims to enroll 100,000 participants, regardless of their cancer-qualifying criteria or family history, over the next four years to receive genetic testing at no cost. Results from these screenings will be used for research as well as to inform participants and their health care providers whether they are at a higher risk for certain cancers. Once patients with these risks are identified, the Hereditary Cancer Clinic will work with the provider and patient to develop customized a treatment plan specific to each individual.
Screening all adults is important to this process, as it serves to identify patients at risk who might otherwise be missed by strict testing criteria. Often this criteria can result in providers not being able to recognize that someone is at risk until after that patient has already developed cancer, which can be too late for patients to receive the most optimal treatment available. The goal of offering genetic screening to all adults is to be able to identify who may be at risk for cancer before they develop it. Similar programs in the U.S. have shown that 1 in 75 people are at risk for a serious health issue, of which 90% are not discovered through traditional practice.
“As part of our hereditary cancer program, we are using a multipronged approach that includes screening a large number of adults through the In Our DNA SC program and also specifically identifies high-risk patients who need testing in order to get them tested. For patients where mutations are found, the Hereditary Cancer Clinic team can then create precise cancer care plans with our multidisciplinary oncologic teams at Hollings as well as identify family members who could benefit from genetic testing,” said Hughes.
“Our goal,” he added, “is to increase the amount of genetic testing available overall so we can identify patients at risk before they develop cancer and then help to prevent cancer or find it at an earlier and more treatable stage. Genetic testing can save lives, and we want to develop the model that maximizes its benefit for our patients.”