Genomics

Cancer is devastating at any age. Can you imagine having to experience such an awful disease at the age of three? Around this age, Greyson Banovich started having excruciating pain in his lower back. Neither he nor his family could understand. Finally, when it became disruptive in school, the Banoviches realized the pain was severe and needed attention as soon as possible. Doctors found that Greyson had a large tumor on his spine called ganglioneuroblastoma. Ganglioneuroblastoma is a rare cancer of the nerve tissue and occurs almost exclusively in children and infants. Learn more about childhood cancers, including signs, symptoms, and more. The Doctors told the Banoviches they arrived 'just in time' because Greyson's tumor was about to cut off the nerves in his spine. Immediately following the MRI, the family received a room on the children's oncology floor so Greyson could undergo treatment as soon as possible. WATCH: Greyson & His Mom discuss his experience from diagnosis to treatment. How NFCR Played an Important Role in Greyson's Treatment Step one of Greyson's treatment was to remove part of the tumor so it could undergo genomic sequencing. Genomic Sequencing is a method of analyzing the entire genetic makeup of a specific organism or cell type and can provide valuable insights to families and medical teams, including how or why cancer formed and the best treatment approach. In Greyson's case, his tumor was sequenced to have the ALK mutation. This finding meant that his tumor had likely been growing slowly inside him since his birth and was not influenced by environmental factors. As you can imagine, this provided significant relief to Greyson's parents. Since Greyson's tumor was slow-growing and did not show indicators of being at risk for metastasis, his medical team determined his treatment would be a series of surgeries to remove the tumor. Greyson would not need chemotherapy or radiation. NFCR-funded cancer research was a contributing factor to Greyson’s successful treatment plan. NFCR has long believed that by understanding the basics of cancer, we can find a pathway to a cure for cancer. As such, we have supported research that looks at cancer outside the lens of what we learn can only be applied to one cancer, but instead, how we can use findings for multiple types of cancers to benefit more patients. Dr. Daniel Von Hoff has received long-term support from NFCR and its donors. With NFCR-Support, Dr. Von Hoff advanced the use of the technology called whole genome sequencing (WGS) in his pioneering efforts to help guide treatments for patients with rare cancers. WGS decodes the genetic information in cancer patients’ tumors. With the analysis of the data from WGS, researchers can identify known abnormalities in cancer genes as well as new mutations in these genes or in new genes. With this molecular information, the abnormalities can be matched to therapeutics that “target” them, providing a guide for our doctors to treat patients. Von Hoff is a world leader in translational medicine, accelerating novel drug discoveries from the laboratory to cancer treatments in clinical trials. His accomplishments have led him to his current role as executive vice president [...]

Immunotherapy has changed the landscape of cancer medicine. The good news about its recent success in treating rectal cancer marked a new milestone in curing cancers. Rectal Cancers Are Gone After the Treatment A research paper published in the New England Journal of Medicine on June 23, 2022, reported that 12 patients with rectal cancer treated with the immunotherapy drug dostarlimab have all achieved complete remission – the cancers vanished or are undetectable after the treatment.  Doctors followed up with these 12 patients for 6 to 25 months after the treatment, and the results from all patients are remarkable:  The tumor is undetectable on MRI scan and endoscopic examination; No progression or recurrence had been reported during the follow-up period; No severe adverse events have been reported for all patients since the treatment. This type of outstanding treatment outcome has not happened before. Genetic Testing Played a Critical Role  This unprecedented treatment outcome proved that developing genetic testing technology and applying it to cancer treatment is worth its decade-long research efforts.  All patients received genetic testing before being selected for the clinical trial. These 12 patients were recruited for the trial because they tested positive for a genetic instability called mismatch repair deficiency (MMR-d). Research has shown that patients with MMR-d may respond better to dostarlimab treatment than patients without it. The genetic testing on MMR-d played a critical role in successfully treating this cohort of patients. Actually, the combination of genetic-testing-based patient selection and immunotherapy led to the complete remission of all patients in this clinical trial.  NFCR is a Pioneer in Genetic Testing Research The National Foundation for Cancer Research (NFCR) is a pioneer in funding genetic testing research. As early as 2005, NFCR started to support cancer molecular profiling research at the Translational Genomics Research Institute (TGen). Today, molecular profiling and other genetic testing technologies have become powerful tools for doctors to match patients with personalized therapies for their cancers. With the rapid adoption of genetic testing technology in hospitals, we will see more successful cases like this in the future. Precision medicine combined with immunotherapy provides a better treatment option for untreatable or uncontrollable cancers under standard therapies. Reference: PD-1 Blockade in Mismatch Repair–Deficient, Locally Advanced Rectal Cancer. The New England Journal of Medicine, June 23, 2022.

There's a paradigm shift taking place in the world of cancer treatment. Experts are moving away from an organ-focused approach to treatment, like using radiation to treat the specific area affected by cancer. Instead, they're looking at genomic sequencing.  Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of an individual's genes. Regarding cancer, genomics allows experts to examine DNA to determine an individual's risk of cancer through genomic sequencing. This means that oncologists can provide more individualized treatment options for patients using precision medicine.  How can cancer risk be determined through genomic sequencing? Parents pass along many traits to their children, such as hair and eye color. Unfortunately, the risk of developing certain types of cancer can also pass along. By examining DNA, experts can identify certain changes in a person's DNA known for increasing their risk of developing various types of cancer. However, not all cancers pass genetically. In fact, only five to ten percent of all cancers are believed to have an inherited gene mutation. It is important to note that no test can provide exact answers about a person's inherited cancer risk. Genetic testing can tell whether a specific genetic mutation exists in the DNA. However, it cannot tell whether an individual will develop the disease associated with that mutation later in life or not. What is the benefit of genomic sequencing? Genomic sequencing cannot prevent a cancer diagnosis but can help identify cancer-related DNA mutations. This means an individual can implement precautionary measures. These measures could include making healthy lifestyle changes, such as exercising regularly, ceasing smoking, or reducing alcohol consumption. Depending on the type of mutation, medications may be available to reduce one's risk of developing cancer. Similarly, genomic sequencing may highlight the option of surgery to remove an organ or gland to prevent cancer from forming or promote undergoing more health screenings regularly. At three years old, Greyson started to experience severe pain in his lower back. Doctors found that Greyson had a large tumor on his spine called ganglioneuroblastoma. See how genomic sequencing played a role in his treatment plan. Greyson is alive today thanks to the hard work of researchers, doctors, and the donors who support their work.  Who should utilize genomic sequencing? Experts typically only recommend genetic sequencing for patients whose families have a history of certain cancers or patterns of cancer. Doctors may order genetic testing for people that have: Multiple first-degree relatives with cancer diagnoses; Numerous relatives who have been diagnosed with the same cancer on one side of the family; A family history of cancers linked to a single gene mutation, such as breast cancer, ovarian cancer, or pancreatic cancer; Family member(s) who has been diagnosed with more than one type of cancer; Family member(s) who has been diagnosed with cancer at a younger age than typically seen for that cancer, such as colon cancer; Close relatives who have been diagnosed with cancers linked to rare hereditary cancer syndromes, such as Hereditary Breast & Ovarian Cancer Syndrome (HBOC), Cowden Syndrome, or Lynch Syndrome; or Family member(s) who has been diagnosed with [...]