Breast cancer patients have more treatment choices!

Breast cancer patients have more treatment choices! The new instruments provide information on the risks of recurrence and treatment options.

"Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients"
 

But the clinical significance of many of the inherited mutations that can now be identified remains unclear. We're not just dealing with a more effective diagnostic tool- we're entering into an era where the mutation is seen as an aberration, a genetic error that drives cancer.

Breast cancer is caused by genetic mutations, and Myriad Genetics pioneered testing that has since opened the door to genetic testing. With BRCA1 and BRCA2 mutations, there is a 45% chance of developing breast cancer.

Doctors can now get a preliminary look for genes that are implicated in breast cancer for a lower price. The reliability of this testing may vary, but the low cost makes it worth a try.

Breast cancer patients with a PALB2 mutation are at a greater risk of developing breast cancer. This often leads to the consideration of a mastectomy. A woman named Caroline, from Sterling Heights, Michigan took her friend's advice and had a double mastectomy. The test results affirmed her decision and helped her family understand the procedure.

Genetic Tests Inspire Treatment Opportunities

Healthcare providers advise women with a BRCA gene mutation to consider taking preventive medication. Genetic Tests Create Treatment Opportunities and Confusion for Breast Cancer Patients, But You Can Have Better Information Once You Know Your Own Gene Mutation

The pros and cons of genetic testing

Roughly $7 billion is spent every year on breast cancer treatments. However, these breast cancer experts are concerned that there may be a genetic mutation or two for which the impact is unclear which could create anxiety and lead to additional testing, ultimately raising costs to the health care system.

Can genetic tests on breast cancer patients also be confusing?

Dr. Mark Robson takes care of cancer patients and explained that some people come to Memorial Sloan Kettering after getting confusing results elsewhere. The Genetic services are staffed with doctors, genetic counselors, and other professionals who help with understanding the genetic test result to ensure that the patient is able to make timely medical decisions.

For people with breast cancer, the NCCN recommends limiting testing to those who have high-risk factors. That includes if someone has a family history of breast cancer, is 45 or younger when diagnosed, and/or has Ashkenazi Jewish ancestry.

Genetic testing will now be offered to all patients who are diagnosed with breast cancer, as well as those who have a family history of breast cancer. This new recommendation has been met with controversy from the medical community.

Eric Manahan is a general surgeon in Dalton, Georgia, and a member of the surgeons group's board of directors. He says the guidelines cover most people who needed testing, but they wanted to get all of them.

BRCA1 and BRCA2 genes have been tested for since the mid-1990s and are the most common genes linked to breast cancer. Mutations in other genes are much less common and generally don’t increase breast cancer risk as much. These other genes may also not be as clear-cut when it comes to causing cancer.

When faced with less common types of cancer, it is often unclear how they should be dealt with. When individuals are faced with different errors, then it's hard to know what to do.

There are various cancer-causing genetic markers, and the risks may be lower for different cancers. Thanks to AI, we now have the potential to know that risks vary depending on the circumstance.

Genetic testing can inform decisions about the type of surgery. For example, if a high risk of recurrence has been identified through testing, a patient might opt for more extensive surgery such as a double mastectomy. Genetic information can also provide important information to family members about the potential for cancer.

This type of genetic testing looks at mutations in the genes that people inherit from their parents, which differ from genomic tumor tests that look at specific genes or proteins in a cancer cell. They can help doctors understand the rate of cancer cells and the likelihood of a recurrence.

One positive impact of genetic testing is that it can help to direct treatment plans. Patients with metastatic breast cancer and BRCA1 or BRCA2 mutations are uniquely eligible for PARP inhibitors, genes that target tumors with faulted DNA.

But genetic testing that uncovers inherited mutations in many other genes is widely available and yields less clear results.

Robson comments that selective testing only helps cancer specialists diagnose which patients should get a double mastectomy or give guidance on how to best care for them. With new genetic information, people are debating how to employ them, and insurers are trying to decide if they will cover the cost.

There is both underuse of tests that science says are relevant and overuse of tests that experts say provide information that can't be interpreted with any scientific certainty.

Patients newly diagnosed with breast cancer can be confused by the expensive genetic tests they may need.
 

Doctors suggest that one step to take is to make sure a select group of people who would overwhelmingly benefit from genetic testing is receiving the genetic tests they require. For example, only 15% of breast cancer patients who passed the NCCN guidelines for testing received genetic tests according to data collected in a national health survey between 2005 and 2015.

According to Associate Professor at Vanderbilt-Ingram Cancer Center and Vice Chair of the NCCN Guidelines panel, people in need of detailed cancer screenings who were not yet identified.

Without being told to, the patient falls through the cracks. Doctors may not recommend genetic testing for over 50% of high-risk breast cancer patients.

Doctors may not know which genetic tests to provide, even if they are recommended. In this case, the individual may need to consult with a qualified professional. These individuals are in high demand and have little time for other work.

Studies show that the results of genetic testing can be faked, and some tests don't have conclusive results. This can result in unnecessary mastectomies without taking into account other factors, or other extreme treatments.

Dr. Allison Kurian, director of the women’s clinical cancer genetics program at Stanford University, says that doctors are not getting the understanding they need. He recommends there is future research capacity in this area.