The Power of Genetic Testing

Featuring: Lisa Madlensky, Alison Sachs
Genetic testing can help advise treatment for those genetically predisposed to certain cancers.

Dr. Lisa Madlensky is joined by Director of Community Outreach & Cancer Support Services Alison Sachs to discuss how genetic testing works.


Lisa Madlensky, PhD has provided cancer genetic counseling services for over 20 years. She has practiced in the United States and Canada, and was a founding member of the Familial Cancer Risk group of the National Society of Genetic Counselors (NSGC), establishing cancer genetic counseling as a sub-specialty.

Clinical research themes include clinical genetic testing and follow-up for families with familial cancer risk, the public health implications of cancer genetic testing, quality of life in those at increased risk of cancer, the integration of cancer risk assessment into family practice, and family-level cancer prevention. She also studies the impact of direct-to-consumer genetic testing and the relationship between germline and somatic mutations in cancer.

As the Director of Community Outreach and Patient Support Services at Eisenhower Lucy Curci Cancer Center, Alison Sachs, together with her team, is responsible for the development, design, implementation, budget and monitoring of community outreach, community education, disease prevention and health promotion programs, providing services to approximately 5,000 patients, family and community members annually. She serves as Field Instructor for several schools, including the USC Graduate School of Social Work, is on the Board of Directors for the American Cancer Society Western Desert-Coastal Region, serves on the Medical Advisory Board for The National Lung Cancer Alliance and is on the Editorial Review Board for the Journal of Psychosocial Oncology.


Bill Klaproth (Host): Genetic counseling is available for people who have a cancer diagnosis or a family history of cancer who want to understand if they have a hereditary predisposition for cancer. Here to talk with us about the power of genetic testing is Dr. Lisa Madlensky, Director Family Cancer Genetics Program at Moore's Cancer Center at UC San Diego Health and Alison Sachs, Director Community Outreach and Cancer Support Services at Eisenhower Lucy Curci Cancer Center. Dr. Madlensky and Allison, thank you so much for your time. Dr. Madlensky, let's start with you. What type of genetic counseling do you offer?

Lisa Madlensky PhD (Guest): So, our program with Eisenhower is specifically for cancer genetic counseling and that can include an assessment and genetic testing for people who themselves have a diagnosis of cancer. It can also be an assessment and possible genetic testing for people who have a family history of cancer. So, those are the two main categories of people that we provide this service for.

Bill: Now does an oncologist have to request the test or can a patient request genetic testing without a referral?

Dr. Madlensky: In most cases, it will be an oncologist that requests the test and part of that is because, it can be a little bit reassuring I think for a lot of listeners that the majority of cancers are not strongly genetic. And so, often the oncologist will ask questions about family history, they are reviewing a patient's pathology report and looking at how old is this patient at the time that they were diagnosed and putting that information together helps the oncologist determine if there's a possibility that this could be a genetic type of cancer in which case the oncologist will make the referral. A lot of times though, people are aware of a very strong family history of cancer in their family and may wonder is there something I should be doing? Is there any extra screening I should consider? Is there genetic testing that can help me sort out what my personal level of cancer risk is? And in those cases, often people will self-refer. We will usually review their family history before we actually do a consult to see if it looks like a consult will be helpful for them or in some cases, people are concerned because they have a close relative with cancer and worry that it could be genetic, but you know kind of like I said before, most of the time, a cancer diagnosis is not related to a strong genetic predisposition.

Bill: So, curious minds want to know what cancers can be genetic?

Dr. Madlensky: Right. So, this is one of the most common questions we get. The top four that we evaluate most frequently are ovarian cancer, probably somewhere between 10-20% of all ovarian cancers are because of a strong genetic predisposition. So, that's one cancer type we recommend even if there is no cancer in the family, that patients with ovarian cancer consider a genetics consultation or genetic testing. For patients with breast cancer, the national guidelines recommend that every woman who has breast cancer before the age of 45 should consider a genetics consultation. For women with breast cancer over the age of 45, then we are really looking for people who have multiple cases of breast cancer in their family tree. So, not just one and sometimes not even two, but typically three or more cases of breast cancer. Men with breast cancer; that's a definite red flag that there's a possibility of something genetic going on so men with breast cancer are automatically referred. Colorectal cancer is again a relatively common type of cancer, only about five percent of those have a strong genetic cause. But again, using age of diagnosis so people who are diagnosed before age 45 with colorectal cancer should be referred or people who have multiple colon polyps even if they don't have a cancer diagnosis. We usually say people who have twenty or more colon polyps should consider genetic referral and then the fourth one is pancreatic cancer. And this is relatively new. Only about five percent of pancreatic cancers have a strong genetic predisposition so again, that's kind of looking at what does the family history look like. Are there clusters of cancers that are in the family? What's the age of diagnosis? So, we put all of those clues together and try to help families understand if this could be the result of a genetic predisposition.

Bill: And once someone gets tested, as far as the outcome of testing; what's the emotional impact of learning this information for the patient particularly if there is something to share with family members about needing testing? Tell us about that.

Dr. Madlensky: Right, that's a really good question. We always kind of say in genetics that when we order a test, it's not just information for the patient or the person that we are seeing to order the test on; it's actually testing that provides information for all family members and when we talk about the impact of that; we like to think about it as information that can really be game-changing for a lot of families. The majority of people who undergo genetic testing will have negative test results because again, a lot of these genes that are causing a greatly increased risk of cancer are really quite rare. So, most people will end up with negative test results.

But for the families where we do determine that there is a hereditary cancer predisposition or a high risk of cancer that is being passed on through the family; we want to be proactive about that. So, emotionally, of course it can always be distressing to learn that there's an increased risk of cancer either in yourself or in your family members. But we try to take that information and be proactive with it. Our focus is really on how can we use this information for cancer prevention and early detection? And so, when we try to be proactive and think about well this is information and it may be distressing at first; but how can we turn this around and use that information to avoid an advanced cancer diagnosis in family members in the future? In a lot of cases, it also gives people valuable information in that if we find a specific genetic mutation in a family and then those family members kind of branch out and pursue testing to find out well did I inherit this mutation or did I not. I know it's in my family, but I don't know if I personally have it.

All of the people who test negative even though they have a family history of cancer, they are kind of off the hook from being at high-risk. We think of them as being at just the average population risk of cancers. So, in a lot of cases, we can give people reassurance that look you did not inherit the genetic predisposition that's present in your family. The people who did inherit it are at increased risk, but the people who did not inherit it are at average risk and so they may not need to go through additional screening or medical testing or surveillance or use some of the options that we have for cancer prevention and early detection.

Bill: So, this prevention and early detection is so vitally important and Alison, let's turn to you and talk about genetic counseling. What is the importance or benefits of having a genetic counselor?

Alison Sachs, MSW, LSW, OSW-C (Guest): Well I think listening with Dr. Madlensky pointed out so well those benefits. With genetic testing so readily available today, the role the genetic counselor plays an even more vital part in understanding this complex field and as I said before, they are called counselors for a reason. They don't only explain that positive test, as Dr. Madlensky said, but they help you figure out with your family who might have the mutation, but also who might benefit from knowing the mutation and talking with family members about a positive test result and what that may mean; that may not be easy. So, decisions about what steps one might or might not have to take to lower risk of developing cancer. These can include medical procedures and each family member has to make their own decision about being tested. You really need the knowledge and expertise of a genetic counselor to move you through that entire process.

Bill: So, knowledge, expertise and certainly information to process all of this. That makes total sense. And Alison, I know you wanted to share a short story with us about a patient. Why don't you go ahead and tell us about that patient now?

Alison: Well thank you. I would like very much to do that, and this is about knowing your family history, knowing what questions to ask and not ask in your family and I'm going to talk about Amy, which is obviously not her real name. And up until Amy's diagnosis with breast cancer, she had no health issues and lived what we all would consider an extremely healthy lifestyle eating well and exercising regularly. Now Amy was diagnosed with breast cancer and she was completely frustrated and talked often about not having any of those risk factors that could lead to breast cancer. She just didn't understand. She did a lot of research. She was part of our breast information and support group, so we talked her through this.

This went on for months. She kept doing more and more research and she kept coming in and saying you know, I know that if you can be - you are obese or I know if there is a great taste of alcohol there might be some risk and I know if you have certain religious or ethnic background you could be at risk, but I don't have any of those things and again, that frustration for her. She would joke often and say you know I probably have some Jewish relatives in my background somewhere that no one has ever talked about. And this went on for a while with her and she was so focused on the why me and how did this happen to me and her mother finally stepped forward and hearing about the risks for breast cancer being higher for those of Ashkenazi which is eastern European Jewish descent, for the first time to this young 40-year-old; her mother revealed that she was actually adopted.

And with further research, she was able, our Amy, to identify and find her birth parents and to track down their family history. They were Ashkenazi Jews and there was a family history of breast cancer. And with this new information, she then was seen by the genetic counselor. She was tested. She did have the positive test for the BRCA gene. So, I mean had we known about her family history prior to developing breast cancer, would that have made a difference? We are never going to know that. But we do know that had she known, she would have at least had the opportunity to meet and discuss with a genetic counselor what steps could she have taken to lower her risk and were there medical procedures she could have done to prevent that breast cancer. She did go on to have some medical procedures done to lower her risk for ovarian cancer and I think this is just a great story about knowing your history, knowing the questions to ask your doctor about family history and the purpose of genetic counseling and who do I go to for this. Not just doing a test that you can buy off a shelf, where no one is there to go through all the steps with you and talk with you about what do you do with those results. So, good story. Good lesson to learn.

Bill: It sure is and again, back to that prevention and early detection and how this information can be so important, and we are lucky to live in an age now where we have advancement such as genetic testing. That's for sure. Well Dr. Madlensky and Alison, thank you both for your time today and talking about genetic testing. To learn more about Eisenhower Health's affiliation with the UCSD Health Cancer Network and about genetic testing call 760-674-3602 or visit, that's This is Living Well with Eisenhower Health. I'm Bill Klaproth. Thanks for listening.