Clinic facilities

Genetics expert spearheads Hollings Hereditary Cancer Clinic | MUSK

Kevin Hughes, MD, director of cancer genetics at MUSC Hollings Cancer Center and holder of the Rose McKoy Jr. MD Endowed Chair in Surgical Oncology, is a strong believer in using genetic testing to identify patients at high risk for cancer before it happens. occurs. Hughes is an internationally recognized expert in the field of genetic testing and in the identification and management of patients at risk of hereditary cancer. He runs the Hollings Hereditary Cancer Clinic, which is one of the first in the country designed to more effectively treat patients with genetic mutations. Hughes said the clinic will provide patients with a centralized location for ongoing care that offers them comprehensive and efficient management by a team of specialists and builds on existing expertise at Hollings.

Similarly, the High-Risk Breast Assessment Program continues to assess and manage patients at high risk for breast cancer, while the Cancer Genetic Counseling Program oversees testing to identify patients who have carcinogenic mutations in specific genes. Once the risks and/or genetic mutations have been identified, the new Hereditary Cancer Clinic will complete the picture by treating these patients more effectively, offering more precise cancer care and better long-term health planning through counseling. genetics and cancer prevention and monitoring with cancer specialists.

“Patients and their families at hereditary risk for cancer often find themselves with an underlying sense of anxiety, seeking a pathway to personalize their screenings, mitigate their risks, and obtain the best treatments possible,” said Prabhakar Baliga, MD, Chairman of the Department of Surgery. “We are fortunate to have recruited Dr. Hughes, a world-renowned authority on cancer genetics, who will lead efforts to provide precision cancer care in the clinical practice of South Carolinas at risk for hereditary cancer. .”

Hughes said precision cancer care has come a long way over the past quarter century. In 1996, screening for BRCA 1/2 mutations became the first genetic cancer risk test available as a clinical service. Today, MUSC Health’s genetic tests can test 84 cancer genes simultaneously, providing more targeted care for a wide range of cancers.

Hughes explained that genetic testing is now something most doctors can do with a little training. But when the test result comes back and says the patient is positive for a genetic mutation, that patient must have someone who knows that mutation very well, the cancers it increases risk for, the magnitude of that risk, and the best way to minimize this risk.

“Based on test results, patients identified as high risk for specific types of inherited cancer can be supported with a highly specialized plan targeted to each patient’s specific mutation and that patient’s clinical situation. Since each genetic mutation is linked to its own set of cancers, each cancer has a gene-specific level of risk and each patient has their own specific clinical situation; the treatment plan should be unique for each patient and cover that patient’s entire life,” Hughes said.

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 specific oncology specialists to manage their risk of Cancer. The Hereditary Cancer Clinic team monitors the patient to ensure the continuity of the plan he has developed. Dedicated to a family-centered approach, the team also reaches out to relatives of the patient 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 identify those family members who need testing, and if they’re local, we can take care of them,” Hughes explained. “For family members in other parts of the country, we can help them get tested in their area.”

Hughes said gathering the information needed for this type of testing is time-consuming for both referring providers and genetic counselors. With the expected 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 develop, MUSC Health has access to an innovative platform for screening, tracking and managing at-risk patients. The software is extremely useful in identifying patients – and their loved ones – who can benefit from precision cancer care.

Using this process, a patient enters their family medical history and the software performs a risk assessment. If he meets the genetic screening criteria, the software generates a test request form with all the necessary information, including a pedigree chart to illustrate the family’s medical history, according to National Comprehensive Cancer Network Genetic Testing guidelines. With all of the supporting documentation built into the referral, the insurance company is more likely to cover the cost of the test without delays or tedious requests for additional information.

Hughes estimated that if the provider had to compile and complete all of this documentation, it could take upwards of 30 minutes per patient. “For a busy provider who sees multiple patients each week who could benefit from genetic testing, the extra work becomes overwhelming,” he explained. “The goal is to simplify the process, allowing providers who typically screen for cancers, such as primary care providers, obstetricians, gynecologists and gastrointestinal specialists, to easily perform genetic testing. ”

Hughes said that in an ideal world he would recommend a risk assessment for every patient at age 25, suggesting 25 because that’s the age when cancer rates start to rise for certain genetic mutations. It is estimated that for every patient who completes a family history, around 10% to 15% of the population will be identified as meeting the testing criteria, adding that several of the genes tested not only cause cancer but can also cause genetic diseases. in newborns.

For patients with these specific genetic mutations, specialists not only review cancer risks with them, but may also advise patients to let any relatives who are planning to have children know to get tested for the mutation as well. genetic. With pre-pregnancy testing, many of these conditions can be prevented or alleviated as soon as possible.

Hughes is also excited about MUSC’s In Our DNA SC community health research program. This is a statewide initiative 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. The results of these screenings will be used for research as well as to inform participants and their healthcare providers if they are at 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 a personalized treatment plan specific to each individual.

Screening all adults is important to this process, as it serves to identify at-risk patients who might otherwise be missed by strict testing criteria. Often, these criteria can prevent providers from recognizing that a person is at risk until that patient has already developed cancer, which may 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 people at risk of cancer before they develop it. Similar programs in the United States have shown that one in 75 people are at risk of having a serious health condition, 90% of which are undiscovered by traditional practice.

“As part of our hereditary cancer program, we use a multi-pronged approach that includes screening large numbers of adults through the In Our DNA SC program and also specifically identifying patients with high risk who need testing in order to get them tested. For patients in whom mutations are detected, the Hereditary Cancer Clinic team can then create specific cancer care plans with our multidisciplinary oncology teams in Hollings as well as identify family members who may benefit from genetic testing,” Hughes said.

“Our goal,” he added, “is to increase the amount of genetic testing available globally so that we can identify at-risk patients before they develop cancer and then help prevent cancer. cancer or find it at an earlier, more treatable stage. Genetic testing can save lives, and we want to develop the model that maximizes its benefits for our patients.”