New treatment options continue to emerge for diseases that until recently had limited, if any, treatment choices. Nurses are seeing more changes in the way treatment regimens come together, biosimilars are presenting viable options for patients, and genetic mutations, as opposed to disease sites, are at the forefront of drug development.  

Underserved communities largely have low rates of cancer genetic testing. Although the reasons vary, they can include lack of referrals, no or underinsurance, prohibitive cost, lack of trust, lack of knowledge, discrimination issues, or competing health needs.

Genomic testing—identifying variants, like mutations, in tumor cells to inform patient treatment options—occasionally comes with unanticipated results that clinicians have to address with their patients. Clinicians and patients alike are often hopeful that tumor genomic testing will identify a personalized cancer treatment. Indeed, many patients have benefited from being candidates for new targeted therapies identified through genomic testing. 

Every cancer diagnosis is as individualized and unique as the person receiving it. From family history to societal and economic background to a patient’s genetic make-up and composition, cancer affects each person with cancer differently. Initiatives like precision medicine are based in data that suggest that a personalized disease should have its own personalized treatment. As a subset of precision medicine, precision oncology assesses a patient’s unique genetic profile to help align targeted therapies to hit the right cancer subtypes. 

An S5 methylation test detected 100% of grade 2 cervical intraepithelial neoplasms or worse, compared to a 50% detection rate for Pap or human papillomavirus (HPV) tests, according to the results of a recent study reported in the International Journal of Cancer.

Multigene testing for hereditary breast and ovarian cancer has increased the detection predisposition genes beyond BRCA1 and BRCA2, according to study findings presented at the San Antonio Breast Cancer Symposium on December 7, 2018. 

On November 26, 2018, the U.S. Food and Drug Administration (FDA) granted accelerated approval to larotrectinib for adult and pediatric patients with solid tumors that have a neurotrophic receptor tyrosine kinase (NTRK) gene fusion without a known acquired resistance mutation, that are either metastatic or where surgical resection is likely to result in severe morbidity, and who have no satisfactory alternative treatments or whose cancer has progressed following treatment.

Which Gene is Associated With Cowden Syndrome (Multiple Hamartoma Syndrome)?

A. APC 

B. VHL 

C. TP53 

D. PTEN

As researchers learn more about how combination therapy combats drug resistance and lessens the changes of tumor evasion of the immune system, immune checkpoint inhibitors are receiving approval for a broader range of indications. However, recent U.S. Food and Drug Administration (FDA) approvals have centered around hematologic malignancies and the emergence of two new biosimilars. 

My story, like many of your patients, is unfortunately not that uncommon: I’m a motherless daughter. I lost my mom to breast cancer when I was 26 years old; she lost her mother to the disease before she graduated high school. The BRCA1 mutation has been passed down in my family, and I, too, carry the mutation. Even though it was expected, I was devastated and desperately looking for resources to help manage my cancer risk. It was scary not knowing where to turn. I needed to know that I wasn’t alone. 

Radiation therapy can be an incredibly draining form of treatment for patients with cancer. Side effects such as fatigue can be debilitating for many before, during, and after treatment. Because symptom management is a crucial component to cancer care and central role of oncology nursing, ensuring that patients are able to mitigate their symptoms and side effects can help improve their quality of life. Recently, a team at the National Institute of Nursing Research (NINR) identified certain genes associated with fatigue in men being treated for prostate cancer.

On March 6, 2018, 23andMe—an at-home genetic testing company—announced their direct-to-consumer genetic test (DTCGT) would include DNA results for the three common founder BRCA mutations commonly seen in people with Ashkenazi Jewish ancestry. This was big news because DNA results for the BRCA mutations had been previously available on the 23andMe panel report until the U.S. Food and Drug Administration removed them in 2013.

Researchers have developed two new gene-based tests that detect DNA mutations that lead to bladder, endometrial, and ovarian cancers. The tests, which are not yet U.S. Food and Drug Administration approved, could be used to identify a new or relapsed cancer earlier, when it is easier to treat.

Although all cancers have a genetic basis, a subset result from an inherited (i.e., germline) mutation that puts a person at increased risk for certain cancers. Unfortunately, the signs of hereditary cancer are often overlooked or misunderstood. Here’s what oncology nurses need to know about BRCA mutations, one of the more common mutations you’ll see in practice.

Which Genetic Test Performed on Tumor Cells Has Prognostic and Predictive Uses? 

A. BRCA1 test 

B. CA 27.29 

C. Circulating tumor cells

D. Oncotype DX^® 

With hopes for more than 1 million participants, the National Institutes of Health (NIH) has launched the All of Us initiative, a radical precision medicine campaign to amass a collective gene pool data repository. The NIH is aiming to shrink our differences and expand on the similarities found in our genetic data. For some, compiling genetic data of an entire country’s citizens may sound very reminiscent of Big Brother from the book 1984. But the amount of information that could be shared and learned from such a massive health database is remarkable.

On April 30, 2018, the U.S. Food and Drug Administration (FDA) granted regular approval to dabrafenib (Tafinlar ^®) and trametinib (Mekinist^®) in combination for the adjuvant treatment of patients with melanoma with BRAF V600E or V600K mutations, as detected by an FDA-approved test, and involvement of lymph node(s), following complete resection.

Which of the following is gene that may play a role in tumor resistance to chemotherapy?

A. NRAS

B. APC

C. p53

D. VHL

April 25, 2018, marks National DNA Day. Why the hype? National DNA Day commemorates the successful completion of the Human Genome Project in 2003, and the discovery of DNA's double helix in 1953. Without DNA, understanding the diseases and treatments for cancer would be nearly impossible. Genetics and genomics play huge roles in treating malignancy, and it’s crucial to the care of patients with cancer for oncology nurses to understand genetics and genomics.

An international survey of 86 genetic testing labs showed inconsistent protocols and standards for analyzing the BRCA1 or 2 cancer susceptibility genes and their variations. The results were reported in NPJ Genomic Medicine.

Researchers for the PanCancer Atlas, a genomic data set reference tool, recently completed an analysis of molecular and clinical information from more than 10,000 different tumors spanning more than 33 cancer types. The PanCancer Atlas is the result of nearly a decade’s worth of work associated with the Cancer Genome Atlas—a multi-institutional program driven by the National Human Genome Research Institute and the National Cancer Institute (NCI). The results of the analysis were published as a set of 27 papers.

Genetic testing is becoming more recognized among the general public, due in part to news reports and celebrity endorsements. Now, people are seeking to understand cancer risks and prevention measures through genetic information. There are many companies that ask for a mere mouth swab and deliver insight into a person’s DNA. As this becomes more commonplace, those with familial predisposition to cancer will look for ways to understand their own genetic results. Recently, the U.S. Food and Drug Administration (FDA) approved an at-home test identifying some—but not all—breast cancer genes.

Identifying genetically predisposed women with breast cancer who could benefit from risk assessment and genetic counseling is an important competency for oncology nurses. However, a recent study published in the Journal of Clinical Oncology (JCO) reported that fewer than 50% of newly diagnosed patients with breast cancer who should have been given formal genetic counseling actually received the appropriate genetic testing.

It is becoming more commonplace for nurses to find orders for agents with which they are unfamiliar or quite possibly have never administered. Following is a summary of the latest new U.S. Food and Drug Administration (FDA) approvals or indications to keep you up to date in your practice. Of note, this summary contains the approval of yet another biosimilar in trastuzumab-dkst and rolapitant for chemotherapy-induced nausea and vomiting, which includes a safety alert. Early experiences with rolapitant, a NK-1 inhibitor, indicated a risk of hypersensitivity reactions.

Bacteroides fragilis and Escherichia coli appear to collaborate to promote hereditary and sporadic colon cancers, according to the results of studies published in Cell Host and Microbe and Science.

Direct-to-consumer genetic testing (DTCGT) has entered the prime-time stage. It’s difficult to watch TV without seeing ads touting the simplicity of DTCGT and what it can tell you, and it even made Oprah’s 2017 Favorite Things List.

A subset of precision medicine, pharmacogenomics, is also growing exponentially, especially in oncology. Currently, 165 drugs or combinations are influenced by pharmacogenetics, and 58 of those are specific to oncology/hematology.

Cancer treatments aren’t one-size-fits-all, and they differ greatly depending on age.  As the leading cause of disease-related death for children, pediatric cancers pose a critical threat to this population. According to the National Institutes of Health (NIH), one reason pediatric cancer mortality rates persist is because there’s “limited knowledge” related to the biological mechanisms affecting childhood cancers. NIH-funded studies are breaking ground and uncovering new information about the genomics of pediatric cancers.

Christina is a 29-year-old African American woman with a strong family history of breast and ovarian cancers and a personal history of benign ovarian fibroids. She was referred to your office because of a suspicious lump in her left breast. Because of her family history, Christina is especially worried. You are concerned that Christina could have a hereditary family cancer syndrome, and you know that a comprehensive family history must be obtained.

To plan for a strong future, one must understand the past. Reviewing the previous year’s accomplishments is always a good policy for reflection and improvement. It can help remind us of the accomplishments achieved in 12 short months. Such was the case at the National Institutes of Health (NIH), as director Francis Collins addressed the research achievements for 2017 in his opening blog.

Former National Institutes of Health (NIH) Director, Harold Varmus, when asked about cancer treatment, once said, “One of the major advances we’ve had as a result of cancer research is deep recognition of the complexity of cancer. It’s not one disease, it’s lots of different diseases. Every single cancer is different when you look at it on a genetic level.”

On November 30, 2017, the U.S. Food and Drug Administration granted marketing approval to the FoundationOne CDx, a next generation sequencing based in vitro diagnostic to detect genetic mutations in 324 genes and two genomic signatures in any solid tumor type.

Although cigarette use has long been linked to lung cancer, scientists have not understood how the earliest changes in lung cells developed. In a study published in Cancer Cell, researchers showed how cigarette smoke sensitized airway cells to genetic mutations that are known to cause lung cancers.

Mary, age 60, has been diagnosed with stage IIB ovarian cancer. Because she has a strong family history of various cancers, Mary is tested for Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC).

Her test is positive, and she is told she is at increased risk for developing cancers associated with HNPCC: ovarian, breast, prostate, kidney, endometrial, pancreatic, prostate, and liver.

Genetics in clinical oncology nursing practice permeates all aspects of care from prevention and detection to treatment decisions to long-term survivorship care. Each of these areas often overlap, and oncology nurses need a solid genetics understanding to provide optimal care.

In an effort to build a comprehensive catalog of genetic causes of cancer, researchers from Harvard and Massachusetts Institute of Technology’s Broad Institute as well as Dana-Farber Cancer Institute have identified more than 760 genes that cells from multiple types of cancer depend on for growth and survival. The findings were published in Cell.

Senator Bernie Sanders (I-VT) recently gave an interview for The Nation to discuss his announcement and subsequent push for a single-payer healthcare system in the United States. During his 2016 presidential bid, Sanders campaigned for universal health care and gained significant support from the public. However, many on Capitol Hill were still unsure of a “Medicare-for-all” plan. Despite the initially tepid response, Sanders recently outlined a new single-payer healthcare bill he plans to introduce, and he’s gaining surprising support from several senators in Washington, DC.

On June 29, 2017, the U.S. Food and Drug Administration (FDA) granted marketing approval to the Praxis Extended RAS Panel (Illumina, Inc.), a next generation sequencing (NGS) test to detect certain genetic mutations in RAS genes in tumor samples of patients with metastatic colorectal cancer (mCRC). The test is used to aid in the identification of patients who may be eligible for treatment with panitumumab (Vectibix^®, Amgen, Inc.).

I have the privilege of managing and being the sole provider in a unique program. I work in the Hereditary Cancer Program at Saint Louis University Cancer Center, where I provide risk assessment services and education about genetic testing to individuals and families in the region. It’s an amazing nursing role, and I can truly help people prevent cancer and manage their risk.

BRCA gene testing is on the rise for women who do not meet the referral requirements based on family history, researchers reported in study findings published in the American Journal of Preventive Medicine. At the same time, many high-risk women do not obtain the test and remain unidentified.

Researchers at Johns Hopkins Kimmel Cancer Center have demonstrated that random, unpredictable DNA copying mistakes account for nearly two-thirds of the mutations that cause cancer. The results were reported in Science.