Category: Genetics

EWBC ‘s Commitment to Research

Just after Thanksgiving every year, Dr. Stamatia Destounis of Elizabeth Wende Breast Care (EWBC) heads out to The Radiological Society of North America (RSNA) Annual Meeting in Chicago, IL. She has been dedicating this week to the meeting for more than 30 years.

The yearly international meeting highlights the latest advances in radiology and displays research from around the world. At the meeting, Dr. Destounis meets with technology companies and gathers information on innovative technologies that will assist in the early detection of breast cancer. This, in turn, aids EWBC in bringing new equipment to the office, and thus the women of our region frequently participate in clinical research trials.

The RSNA meeting gives EWBC a platform to share important research and findings from our center. This year, our own Dr. Destounis will be presenting data findings on breast density and breast cancer risk study in collaboration with our Genetic Counselor, Jessica Salamone. This exciting research will show the effects of adding mammographic breast density into the Tyrer-Cuzick risk model, one of the risk assessment models used to calculate a patient’s lifetime risk of breast cancer.

Elizabeth Wende Breast Care strives to maintain its standing as a Center of Excellence and is always forefront of technological advancements in breast care. EWBC has active clinical trials and an institutional research department. Recent studies have included breast CT (computed tomography), 3D mammography, osteoporosis screening, breast density assessment. Current studies include ultrasound. Elizabeth Wende Breast Care has a long history of commitment to research that provides our patients access to the best technology possible for early detection of breast cancer.

Premenopausal Women More Affected by Adding Density to Risk Mode
Presentation by Stamatia  Destounis, MD, FACR, and Jessica Salamone, CGC
Elizabeth Wende Breast Care, Rochester, NY

 

Risk Assessment Increases Mammography Use in High-Risk Women

A recent article published in JAMA Network Open highlights the positive impact of individual cancer risk assessment on a patient undergoing mammography screening.

Screening mammography saves lives. In fact, in the last 25 years, 40% fewer women have died from breast cancer. However, differences still exist across racial and ethnic groups, with a higher percentage of Black and Hispanic women dying from breast cancer compared to women who are non-Hispanic White.

Several studies indicate these differences exist due to delayed diagnosis and more advanced breast cancers at the time of diagnosis. This difference is primarily due to skipping or delaying screening mammography.

The article states, “Public health initiatives and advances in cancer research aim to reduce screening mammography disparities among racial and ethnic minority women. Strategies that improve screening mammogram uptake are opportunities to promote equity at a population level. Scalable solutions include breast cancer risk assessment programs to inform patients about their risk and the role of screening mammography in reducing breast cancer mortality.”

Cancer risk assessment is calculated for the vast majority of female patients at Elizabeth Wende Breast Care (EWBC) as part of their annual screening. We collect the data needed for this risk assessment on our detailed health history form. This assists our doctors, and clinical staff in customizing screening recommendations based on the outcome of the risk assessment. These recommendations could include adding supplemental screening ultrasound, or screening breast MRI (Magnetic Resonance Imaging), and identifying patients who may be a candidate for genetic counseling and testing. These recommendations are shared on the patient’s mammogram report and sent to referring providers for review.

Sharing this information helps better engage patients in conversations with their providers about their risk level, the appropriate age to begin screening, and which tests are most appropriate. The results of a cancer risk assessment can be overwhelming and challenging to understand. Having a conversation with a trusted medical professional about these results creates an opportunity to ask questions and learn what actions can be taken.

The recent study found that 52.1% of patients were at average risk and 47.9% at high risk for developing breast cancer. In addition, 60.6% of the patients self-identified as African American, 37.2% as Hispanic, and 2.1% as other racial and ethnic groups. A nonsignificant increase in screening mammography uptake was found, from 38.6% during usual care to 48.7% after risk breast cancer risk assessment. Additional analysis found a significantly higher rate of newly identified high-risk women having screening mammography after learning their risk status (51.1% vs. 36.6%).

This is evidence that cancer risk assessments can change patients’ behavior and increase their likelihood of beginning screening at the appropriate age. We hope that women, especially Black and Hispanic women, will begin having conversations with their medical providers about their individualized cancer risk and use this information to guide them to appropriate screening recommendations. This advancement alone can save lives and decrease the health disparities surrounding a breast cancer diagnosis.

If you have questions about your cancer risk assessment, please contact our high-risk/genetics department at (585) 758-7050.
Are you part of a medical practice seeking to implement cancer risk assessment into your workflow? Our providers routinely provide training for existing medical practices and assist them in implementing a risk assessment program.

Source: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2784055 

EWBC provides cancer risk assessment services to all of our patients

Why is CANCER RISK ASSESSMENT important?

Elizabeth Wende Breast Care (EWBC) provides cancer risk assessment services to all of our patients.

By simply completing our health history questionnaire, we can estimate both your lifetime risk of breast cancer as well as your eligibility for genetic counseling and genetic testing. Obtaining a personalized risk assessment ensures that you are aware of the most appropriate and up-to-date management plan for your current risk level.

It is important to understand that being labeled “high risk” doesn’t necessarily mean that you will develop breast cancer. However, when statistically compared to other women, your chance is higher. A typical woman’s lifetime risk of developing breast cancer is 12% (1 in 8) before consideration of additional risk factors. All women, at average risk, are eligible for a screening mammogram at age 40. Women at “high risk”, either based on family history, personal risk factors, or genetic mutation status, may be eligible to begin a screening mammogram at an earlier age. Women with a calculated lifetime risk of breast cancer of 20% or greater are also eligible for an annual high-risk screening breast MRI. Breast MRI is a very sensitive and specific test for detecting breast cancer. At EWBC we have offered MRI to patients at risk for breast cancer since 2002.

Why is your family history important when calculating risk?

Your family history of breast and other related cancers is an important indicator of your own future cancer risk. Before filling out our health history questionnaire, please identify any family members who have had cancer and be sure to indicate the age at which they were diagnosed. This information is especially important in determining when you should schedule your first screening mammogram. Again, we recommend every average-risk woman pursue a screening mammogram starting at age 40. However, for instance, if your mother was diagnosed with breast cancer at age 42, you are eligible for a screening mammogram at age 32 (10 years before her diagnosis). Be sure to report your family history as accurately as possible as important management decisions are made based on this information. It is equally important to update your family history when new information becomes available. You can update your health history through our patient portal.

How is my RISK is calculated?

A “high risk” designation for breast cancer can be the result of a single risk factor or a combination of risk factors. As discussed previously, a family history of breast cancer, especially at a young age or in multiple family members will affect your personal risk. In addition, positive genetic test results for family members will likely impact your risk regardless of being on your mother’s or father’s side of the family. Also, your age, pregnancy history, breast density, BMI, previous biopsy results, exposure to chest-wall radiation, and hormonal status will all be taken into account with the Up t-date risk assessment software we use to calculate your personalized risk. Both you and your physician will receive a report that contains your calculated lifetime risk of breast cancer. If you fall within the “high risk” category and have questions, our genetic counselor, as well as the EWBC Genetic staff, are available to discuss your eligibility for breast MRI as well as the genetic counseling and genetic testing process.

Knowing your risk can help you and your doctor make informed decisions about your breast health

The Role of a Genetic Counselor in Your Healthcare

Genetic counselors play a crucial role in people’s healthcare – from helping them navigate the genetic testing process, to identifying key information in their family health history, to supporting them through an important medical decision.

Genetic counseling and cancer risk assessment can help people better understand their health, make informed healthcare decisions, and shape the future of personalized medicine.

EWBC Genetic Counseling

With genetic counseling, individuals and families can become aware of how their genetics can affect their health.

Genetic counselors, trained not only in medical genetics but also counseling, are the experts in helping people interpret these test results and guiding patients in their next steps.

Specifically, at a genetic counseling appointment, a genetic counselor would help:

  • Explore personal and family health history to become aware of genetic risks
  • Decide what, if any, genetic testing is best for patients and families
  • How a test result might not give you all the information you need
  • Discuss the medical and emotional implications of genetic information
  • Discuss genetic test results and next steps
  • How genetic test results may affect other family members

Genetic testing helps you learn if your family history of breast cancer is due to a specific inherited gene mutation. The test itself is simple – it’s done with a blood or saliva sample. Results come back in about a week. Genetic test results are a factor in determining the overall risk. Results can help you understand your risk of getting breast and ovarian cancers and steps you can take to reduce your risk. A positive test result does not mean you will get breast or ovarian cancer. If you test negative for a specific gene mutation, you still may be at an increased risk for breast or ovarian cancer.

You may wonder about purchasing an at-home DNA testing kit. While at-home DNA test kits can help with understanding genealogy, they can also unearth your potential risk of developing some significant health conditions in the future. That’s why a certified genetic counselor is recommended to discuss their potential risk based on family history and whether testing makes sense. Genetic counselors can also help people understand their results and ensure informed health decisions are being made after testing.

Each year, millions of people are undergoing genetic testing to learn more about their risks for certain inherited diseases, whether they’re a carrier for certain conditions or if they have a genetic mutation, like BRCA, which could lead to cancer. These tests aren’t meant to scare you, rather provide you with the tools you need to make informed health decisions.

Knowing your cancer risk and being proactive about your health may help you take steps to lower your risk of getting breast or ovarian cancer or find it at an early stage.  As always, genetic counseling can help you determine the best personal course of action. Questions you may have for a genetic counselor: Am I a candidate for genetic testing? Am I a candidate for an MRI? I was previously tested, do I need a larger panel? Will my insurance cover genetic testing?

Genetic counseling and testing are recommended for men or women whose family medical history has certain patterns of cancer. If you have questions, please reach out to our Cancer Risk Assessment and Genetic Counseling office at Elizabeth Wende Breast Care. Our certified genetic counselor, Jessica Salamone, and her staff would be happy to assist you. (585) 758-7050.

Meet our Genetic Counselor, Jessica Salamone, CGC

 

Update on our Genetic Counseling Program

The landscape of genetic testing for cancer susceptibility is changing rapidly. Today, testing via a cancer gene panel is commonplace. However, the size and clinical utility of those panels is expanding. It is important for you, with the help of your physician, to carefully consider which option is best for you. Panels can be as small as only including those breast cancer causing genes with associated management guidelines or as large as 80+ genes. The larger panels are often without clear-cut risk information and management guidelines as the data about specific genes is newly emerging.

The year 2020 will likely include dramatic changes both in panel size and technology. It will certainly be the year of new advances in the field of genetic testing. This new technology will improve both detection and interpretation and will be an exciting era for those of us in direct patient care. The soon to be approved testing will provide better sensitivity and clarity for a significant portion of patients with previously identified variants of unknown clinical significance.

Risk assessment models are a tool we use to predict your future risk of breast cancer. One tool has recently been refined and as a result, you will have access to a more personalized medical management plan. Risk assessment models are used on women who have no personal history of breast cancer. One such model, Tyrer-Cuzick version 8, now includes your breast density. A 5-year, 10 year and lifetime risk of breast cancer can be calculated. This provides you and your healthcare team with a valuable tool in navigating the sometimes-complex field of breast imaging and surveillance. If you’re a high risk patient with dense tissue, you are likely eligible for a screening ultrasound and MRI in addition to your yearly screening mammogram.
As always, genetic counseling can help you determine the best personal course of action. Am I candidate for genetic testing? Am I candidate for MRI? I was previously tested, do I need a larger panel? Will my insurance cover genetic testing?

If you have questions, please reach out to our Cancer Risk Assessment and Genetic Counseling office at Elizabeth Wende Breast Care. Our certified genetic counselor, Jessica Salamone and her staff would be happy to assist you. (585) 758-7041.

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