Genetic Counseling

What Is Genetic Testing?

Genetic testing searches for specific mutations in your genes or chromosomes to estimate your chance of developing cancer in your lifetime.

The choice to undergo genetic testing should be made after discussing the risks and benefits with your provider. The following questions can help you make a decision about getting tested:

• Do I have a personal family history of cancer?
• Have I or has another family member developed cancer at an earlier-than-average age?
• Will the test results affect my medical care, or my family’s medical care?
• If I have a genetic condition, can I lower my cancer risk?

A genetic counselor or physician can help you answer these questions. They can also provide advice and information about the risks and benefits of genetic testing.

Genetic tests are available for different types of cancer, including but not limited to:

• Breast cancer
• Ovarian cancer
• Colon cancer
• Thyroid cancer
• Prostate cancer
• Pancreatic cancer
• Melanoma
• Sarcoma
• Kidney cancer
• Stomach cancer
• Blood cancers
• Lymphoma

Benefits of genetic testing:

• Predict your risk of a particular disease
• Find out if you have genes that may pass increased cancer risk to your children
• Provide essential information to help guide your health care

No genetic test can definitively confirm that you will develop cancer. However, genetic testing can tell you if you are at higher risk of developing cancer.

Reasons to consider genetic testing for cancer:

The decision to undergo genetic testing for cancer is personal and complex. It is a choice best made after consulting with your family members, health care team and genetic counselor.

The American Society of Clinical Oncology (ASCO) recommends considering genetic testing when personal or family history suggests a genetic cause of cancer. Those situations include:

• An individual with cancer was diagnosed at a young age
• An individual was diagnosed with more than one type of cancer
• An individual was diagnosed with certain types of cancers, including ovarian and pancreatic cancers
• An individual has a family history with multiple types of cancers
• A individual is of a certain ethnicity, including those of Ashkenazi (Eastern European) Jewish heritage

Genetic testing will clearly show a specific genetic mutation or mutations. When results find an abnormality, they help with diagnosis and/or management of a condition.

It is important to check with your health insurer to find out if genetic counseling and genetic testing are covered under your plan.

Genetic Counseling: What to Expect

You may be seen by a physician with training in genetics, a genetic counselor or both. A genetic counselor is a specially trained medical professional who provides information and advice about genetics and disease. For some health insurers, genetic counseling is a requirement prior to genetic testing. Before meeting with our genetic counselors or physicians, you will need to gather your medical records, a list of any cancers diagnosed on both your mother’s and father’s side, and reports from any cancer-related genetic testing other family members have undergone. You should also write down a list of questions or concerns and verify with your insurance carrier that your visit will be covered.

During your appointment

At your appointment, you can expect that you and your providers will discuss the following:

• Your personal medical history and ethnic background. Your providers will likely ask about your overall health, your reproductive history, any history of cancer, any biopsies you may have had in the past for suspected cancer and results of past cancer screenings. Additionally, if you are considering genetic testing for breast cancer, your genetic counselor will want to know if you are of Ashkenazi Jewish (Eastern European) descent. About 1 in 40 Ashkenazi Jewish individuals has a BRCA1 or BRCA2 mutation
• Your family’s cancer history. You and your genetic counselor will build a family tree to visualize any cancer diagnoses on either side of your family. This will include the type of cancer, age at diagnosis and treatment outcome.
• The likelihood of an inherited mutation that increases cancer risk. Your genetic counselor will look at your family history, your own cancer history and any results of relatives’ genetic testing to determine the likelihood of an inherited mutation. Your counselor may use a computerized tool to analyze this information to predict the chances that you may have a mutation linked to cancer.
• The value of genetic testing in your specific case. Based on all of this information, your genetic counselor will ask personal questions about your feelings regarding genetic testing. These might include: are you prepared to act on the results you receive? Is this the right time in your life for you to gain this knowledge? How will this help you and your family?

There are several types of genetic testing that may be performed. These include a blood sample, cheek swab, amniocentesis (a prenatal genetic test of amniotic fluid) and chorionic villus sampling (a prenatal genetic test of placental tissue). Genetic testing may be done the same day as your genetic counseling appointment, or you may have it done at a later date.

Cancer Genetics Services Team

WashU Medicine’s Cancer Genetics Program comprises exceptional geneticists, nurse practitioners, genetic counselors and other health care providers. Here are some of the members on the team:

Doctors

• Patricia Dickson, MD, Centennial Professor of Pediatrics and Chief of the Division of Genetics and Genomic Medicine at WUSM (phone: 314-454-6093)
• Andrea Hagemann, MD, Associate Professor of Obstetrics and Gynecology, Division of Gynecologic Oncology at WUSM (phone: 314-747-7222)
• Kelly Bolton, MD, PhD, Assistant Professor of Medicine in the Division of Oncology, Section of Bone Marrow Transplantation & Leukemia at WUSM (phone: 314-273-5711)
• Amy Cyr, MD, Associate Professor of Medicine, Department of Medicine, Division of Oncology (phone: 314-7471171)
• Angela Hirbe, MD, PhD, Associate Professor of Medicine and Pediatrics Director, Sarcoma Program, Co-Director AYA Sarcoma Program, Director, Adult Neurofibromatosis Clinical Program (phone: 314-747-1171)
• Shao Tu, MD, Assistant Professor of Pediatrics, Genetics, & Genomic Medicine (phone: 314-454-6093)

Genetic counselors

• Rachita Nikam, MS, CGC, Cancer Genetic Counselor at WUSM
• Alexandria Correale-Otto, MS, CGC, Cancer Genetic Counselor at WUSM

Genetic Services Offered

WashU Medicine has long been recognized for its excellence in genetics research and is one of the primary institutions involved with the Human Genome Project. Our renowned genetic services include:

• Genetic counseling. Our counselors are highly skilled at reviewing personal and family medical history before helping you decide whether genetic testing would be right for you. They are here to answer questions and provide support both before and after genetic testing.
• Prenatal diagnosis. Our specialists use state-of-the-art diagnostic techniques including cytogenetics, microarray, non-invasive prenatal testing and molecular diagnosis to safely carry out genetic testing during pregnancy,
• Newborn screening. The State of Missouri is a national leader in screening newborns for genetic conditions. In addition to standard MS/MS screening, newborns are tested for six lysosomal diseases.
• Cancer Predisposition Program. WashU Medicine’s Department of Pediatrics and Medicine offers a unique program that diagnoses and treats individuals who are more likely to develop cancer. Our exceptional providers offer support, counseling and education to families, in addition to facilitating treatment when necessary.
• Predictive testing. Our physicians and counselors are experienced at performing genetic testing to identify a patient’s risk of developing certain types of cancer before symptoms show.
  

Locations

With various locations both online and throughout the St. Louis area, our providers are here to support you through genetic counseling and testing.

In-person Genetic Counseling Clinic – St. Louis City Location

CAM 13 C; Every Tuesday and Thursday (morning clinic only)

Staff: Rachita Nikam, MS, CGC

Scheduled through the Department of Genetics at 314-454-6093

In-person Cancer Predisposition Clinic – St. Louis City Location

CAM 7; Every Thursday (morning clinic only)

Staff: Rachita Nikam, MS, CGC and Kelly Bolton, MD, PhD

Scheduled through the Division of Oncology at 314-454-8339

Telehealth Cancer Genetic Counseling Clinic

Every Monday (afternoon clinic only); Every Thursday (morning and afternoon clinic)

Staff: Rachita Nikam, MS, CGC

Scheduled through the Department of Genetics at 314-454-6093

In-Person Genetics Clinic – North County Location

Suite 2010 (Graham Road); Every 3^rd Friday of the month (morning clinic only)

Staff: Rachita Nikam, MS, CGC

Scheduled through the Department of Genetics at 314-454-6093

Multi-Disciplinary Gynecologic Oncology Clinic

Every Alternate Wednesday (afternoon clinic only)

Staff: Andrea Hagemann, MD (Gynecologic Oncology) and Rachita Nikam, MS, CGC

Scheduled through the Division of Gynecology Oncology at 314-362-7135

Breast Cancer Predisposition Clinic

Tuesday mornings at Siteman Cancer Center at Northwest HealthCare

Wednesdays at Siteman Cancer Center at Memorial Hospital Shiloh

Thursdays at Siteman Cancer Center – South County

Staff: Amy Cyr, MD (Breast Oncology)

Scheduled through the Division of Oncology at 314-747-1171

Additional Resources

• Facing Our Risk – Hereditary Breast and Ovarian Cancer Information and Advocacy
  FORCE is the only national nonprofit organization devoted to hereditary breast and ovarian cancer.
• National Society of Genetic Counselors: Find a Genetic Counselor
  The Find a Genetic Counselor directory offers access to over 3,300 genetic counselors (US and Canada). Check with your insurance company to verify coverage of genetic counseling, testing and authorized providers.
• Lynch Syndrome International
  Lynch Syndrome is a hereditary disorder caused by a mutation in a mismatch repair gene in which affected individuals have a higher than normal chance of developing colorectal cancer, endometrial cancer, and various other types of aggressive cancers, often at a young age – also called hereditary nonpolyposis colon cancer.

Limitations and Emotional Implications of Genetic Testing

Genetic testing has limitations and can take a significant emotional toll. Some important things to keep in mind while considering testing include:

• Feelings of anxiety or guilt: if you receive a positive test result, this means that a gene mutation exists. This result can be difficult to accept. For some people, they may see themselves as being sick, even if they never go on to develop cancer. If you receive a negative result, you may also feel a wave of difficult emotions. For example, you may experience guilt if other family members have a certain gene mutation but you do not.
• Family tension: while it is generally encouraged to share test results with family members because these results can be important for their health, genetic testing can complicate family dynamics.
• Developing a false sense of security: a negative result means that a specific gene mutation isn’t present. However, this doesn’t mean that you will not develop cancer at some point. A negative result simply means that you are at average risk for cancer.
• Unclear results: you may receive unclear results if you have a gene mutation that is not linked with cancer risk (a variant of unknown significance), or you may have a mutation that current tests aren’t able to find. Additionally, some genes may react unpredictably to other genes or environmental factors, meaning that it may be impossible to calculate cancer risk.
• High cost: it can be expensive to undergo genetic testing, especially if it isn’t covered by health insurance.
• Genetic discrimination: you may be worried about health insurance or workplace discrimination based on genetic testing results. While your results will appear on your medical record, federal and state laws exist to protect you from genetic discrimination by health insurers and employers. It is important to note, however, that the federal Genetic Information Nondiscrimination Act (GINA) doesn’t extend to long-term care or life insurance providers, and it only applies if a person isn’t displaying any symptoms of their genetic condition.