5 Ways Genetic Testing Is Helpful For Individuals With A Breast Cancer Diagnosis

September 29, 2022


“What’s the point?”

We spend a lot of time talking about how genetic testing has the potential to save lives by giving us information that can be used to prevent cancer, lower risks, and diagnose it at earlier (and more treatable) stages. But people who have already been diagnosed with cancer may feel that genetic information has come too late. If you have a current or past breast cancer diagnosis, here are some ways learning your genetic risks may be relevant for you:

  1. Surgical decisions:
    If you were recently diagnosed with breast cancer, you may be considering your surgical options including lumpectomy, mastectomy and bilateral mastectomy. This is a complex decision with many important factors. The results of your genetic testing may help guide your decision and, potentially, avoid additional surgery down the road. For example, if your genetic testing is positive for a harmful change in the BRCA1 gene, which causes a predisposition to second breast cancer diagnoses and bilateral breast cancer, you may opt to have a bilateral mastectomy to treat your current cancer while also lowering your risk for an additional diagnosis in the future. On the other hand, if your genetic testing is normal (and you have no other indications for a mastectomy), you may feel more comfortable moving forward with a less invasive surgery. Genetic testing is one piece of information that you and your doctors can use to make informed decisions going into this big step.

  2. Treatments:
    When it comes to cancer treatments, there is no “one size fits all.” Treatment is geared towards your specific diagnosis, personal health history, and many other factors. Some medications have recently been developed that are designed to target cancers that are caused by various genetic changes. Knowing whether you have any of these changes can help make sure your treatments are personalized to you.

  3. Other cancer risks: 
    Individuals who test positive for harmful changes in a cancer gene may be at-risk for more than one type of cancer. For example, some genes predispose to both breast and ovarian cancers and other genes predispose to colon and uterine cancers. If you learn that you have a change in one of these genes, your doctor might recommend options for additional cancer screening and prevention.

  4. An explanation:
    There are so many factors that contribute to cancer risk: genetics, environment, lifestyle, nutrition, and random chance. In most cases, we never get the answer to the questions, “Why did I get cancer?” and “Why did my family members get cancer?” But sometimes genetic testing can shine a light on this and, at least in part, provide an explanation for why cancer has surfaced. For some, this may be difficult news to receive and for others, it may be a relief to finally have an answer for what has affected multiple generations.

  5. Family members:
    Genetics is a family affair! Since we share many of our genes with our close family members, the results of genetic testing can have implications for our children, parents, siblings, and others. We always recommend sharing genetic information with biological relatives so that they can make a decision about their own testing and medical management. 

A person’s genetic information can be a powerful tool in treating, screening for and preventing cancer. No matter where you are in your cancer journey, consider speaking with a genetic counselor about how this knowledge can empower you.

Headquartered in Atlanta at Emory University’s Department of Human Genetics, JScreen is a national non-profit offering at-home comprehensive and affordable genetic testing and counseling.

ReproGEN – determines risk for having a child with a genetic disease

CancerGEN – tests for genetic changes that increase risk for many types of cancer

If a person or couples’ risk is elevated, genetic counselors will privately address the results, options and resources to help plan for a healthy future.

JScreen believes that a combination of education, access to state-of-the-art testing technology, and personalized support by qualified medical professionals are key to preventing devastating genetic diseases.