Genetics, Genomics & Liquid Biopsies: How Do They Apply to You

Genetic Testing vs. Genomic Testing

We all know that our DNA can be very useful in figuring out what part of the world our Genetics Genomicsancestors hail from, but can understanding our DNA really help in the treatment of cancer? For more and more of us the answer is yes.  Thanks to the advances in genetic and genomic testing, doctors are able to offer targeted therapies based on the results of these tests.  But what the difference between genetics and genomics?

  • Genetics is the study of heredity (genes that you inherited from your parents)
  • Genomics is the study of genes and their functions

Genetic testing detects hereditary alterations in DNA, while genomic testing detects acquired (over the course of a lifetime) alterations in DNA.

Some of the common mutations we’ve heard about, like BRCA1 and BRCA2 are examples of genetic mutations (germline mutations). These genetic mutations are passed on from parent to child, and increase an individual’s chance of developing certain types of cancers. For example, if you have a BRCA1 mutation, you have a higher risk of developing, breast, ovarian, pancreatic, and prostate cancer.

In addition to genetic testing, there are now genomic tests that can look at certain tumors and identify which therapies might work better against those tumors. These are called targeted therapies. For example, there is now a genomic test that can look at the tissue of an ovarian tumor to detect BRCA mutation types that may benefit from a targeted therapy called a PARP inhibitor.

All genetic or genomic testing is done by analyzing a biopsy.  Traditionally this has meant a tissue biopsy.  Unfortunately, not all tumors are easy or comfortable to access for a biopsy.  Often tissue biopsies mean invasive procedures like surgery, which isn’t always an option because of poor health or the location of the tumor.  Thankfully there is a new hope: Liquid Biopsies.

What are Liquid Biopsies?

Liquid biopsies are blood tests that are analyzed to assess mutations and other changes in a tumor’s DNA. This is possible, because tumors continually shed dead cells into the blood stream.

On June 1, 2016, the FDA approved the first liquid biopsy test for use in cancer treatment. The test detects key mutations in the EGFR gene that makes patients with advanced non-small cell lung cancer candidates for a specific treatment option. Previously, tumor specimens were used to detect these mutations.

At this point, these tests may be most valuable to patients with advanced stage cancer. They can be used to monitor changes over time and direct treatments when tumors recur or progress. Eventually, liquid biopsies may be able to help direct care for patients with earlier-stage cancer or help monitor disease progression in people with precancerous lesions. Scientists caution that more research is needed before liquid biopsies are used routinely in cancer care, but this is an area of intense study, so the future looks bright. The scientific advances in genetic and genomic testing as well as liquid biopsies are allowing cancer patients to benefit from this new era of precision medicine.

For more information about genetics and genomics, watch our webinar recording.

Genetics – Ask the Expert

We are delighted to post this set of “Ask the Expert” questions from Sheila Solomon, MS, CGC is a Certified Genetic Counselor focusing in clinical cancer genetics for the past 15 years. In addition to her work as Sharsheret’s Program Coordinator, she is employed by GeneDx, Inc., a subsidiary of BioReference Laboratories.

Question 1: I’m HER2 positive, BRCA negative; does this affect my family members?

Answer 1: HER2 is a protein found in some breast tumor cells and is not inherited in families. The presence of the HER2 protein can help your healthcare providers provide the most effective breast cancer treatments.

Question 2: When I was diagnosed with breast cancer in 2006, I had the multi-site 3 panel testing which came back negative. My oncologist has asked if I want to do the new testing that tests for 9 different genes linked to breast cancer risk in families. Is it worth doing? Could this new testing have an impact for my children or other breast cancer risks for me?

Answer 2: I’m glad to hear that your oncologist is educated about the new technology using multi-gene panels which allow us to test for multiple genes in a single test. It may be worth meeting with a genetic counselor to review any updates to your family history since 2006, which can clarify which additional testing would be helpful for you.

Question 3: I have Ashkenazi Jewish ancestry on both my mother’s side and my father’s side of the family. My father’s mother died of breast cancer in her mid-60s and there is no ovarian cancer in any woman in the family. My mother’s family was murdered by the Nazis so I do not have health information about them. So I have been wondering, should I get tested for a genetic predisposition for breast and ovarian cancer?

Answer 3: People with Ashkenazi Jewish ancestry have a 1 in 40 chance of carrying a BRCA1 or BRCA2 mutation, which would increase breast cancer and ovarian cancer risks, among other cancers. Thank you for sharing the family history of breast cancer. It is interesting you note that it is on your father’s side of the family. Many people have thought that cancer on the father’s side of the family does not matter, when, in fact, it really does! Men can inherit and pass on BRCA1 and BRCA2 mutation just as equally as women can. So this is still important information. Generally speaking, the younger the diagnosis of breast cancer in the family, the more likely the cancer is hereditary/inherited. With the diagnosis in your grandmother’s mid-60s, it is difficult to say whether her cancer was caused by a BRCA1 or BRCA2 mutation, or if it occurred by chance. It would be worth discussing your personal and family history with a genetic counselor.

Question 4: I am BRCA 2 positive and had a double mastectomy and reconstruction, and the ovaries removed. I have 3 sons, oldest 31 and youngest 26, and I would like them to be tested. Where can they go?

Answer 4: I applaud you and your desire to arm your sons with the gift of medical knowledge! You certainly have taken many steps to reduce your own cancer risks with the genetic information you received and I imagine you would like your sons to know it, too. One of the best ways to begin the conversation is to share your results with them. Talk with them about a meeting called genetic counseling. Genetic counselors are trained healthcare providers who will discuss options with your sons and help to coordinate their testing, should they choose to proceed with the testing. Genetic counselors are located all over the country and world. You can find a local genetic counselor by visiting If you or your sons have specific questions before they meet with the genetic counselor, Sharsheret is glad to be a resource to you and your family. Sharsheret offers Family Genetics Conference Calls, which offers a guided conversation between you and your family members, facilitated by Sharsheret’s genetic counselor to discuss your family’s BRCA genetics risk. You can schedule a call by contacting Sharsheret at 866.474.2774.

Question 5: I’m a 41 year old mom and wife to an amazing husband. I was diagnosed with breast cancer in April. As part of my diagnosis and treatment, I met with a genetic counselor and had genetic testing. I came back with positive for CHEK2. The original treatment plan had been to do 6 weeks of radiation. However, doing some research on my own, I’m pretty nervous about doing radiation, due to this gene. I’m curious if you have an opinion? Luckily, we saw the radiology oncologist this week and she agreed, and she intends to do more research before we proceed, too.

Answer 5: Thank you for sharing your story with me. I am so glad you have spoken with your genetic counselor and are arming yourself with as much knowledge as you can before making decisions. I cannot speak to your specific case and whether or not radiation is the right treatment, as each case is different and is based on number of factors. I recommend you explore this further with your doctor and treatment team. It sounds like your oncologist would be open to this conversation since she intends to do more research, too!

To speak with a member of our support team and get connected with Sharsheret’s genetics program, click here.

This post originally appeared on February 1, 2016, here.

Why Your Family History Matters

Has your doctor ever asked you about medical conditions that other members of your family have had?  Your doctor is trying to understand your family’s medical history to establish your risk for developing any medical conditions that are hereditary, meaning that they run in your family.

Even though only 5-10% of cancers are hereditary, it is important to know if your family has a hereditary cancer, as you may benefit from increased or earlier screening, genetic counseling, or even genetic testing.

The American Society of Clinical Oncology (ASCO) has created this easy to use flow chart, to help you collect your family history and discuss it with your doctor.