Genetics

Genetic counseling services explore your family and personal history to determine your health risks and recommend next steps. Genetics testing is a quickly advancing field used to prevent, diagnose, treat and manage inherited disorders.

Genetic counseling

If you have questions about your risk for developing an inherited disorder, or are worried about passing one along to your children, genetic counseling can address these concerns. By identifying hereditary disorders in your family, we can help you take proactive steps to decrease your, or your family’s, risk.

Genetic counseling starts with a meeting to review your medical history and your family’s health history and discuss potential risk factors. You may be referred for genetic testing, or if testing has been completed, learn about your results and options. If you have concerns about the possibility of genetic issues, discuss them with your doctor, who will determine if you should be referred for genetic counseling.

Genetic testing

Genetic testing looks for variations within specific genes that may indicate an increased risk of developing a disease or passing on an inherited disorder to your children. Genetic testing may be used for a variety of purposes:

Cancer risk - If you have a family history of hereditary cancer, you may be a candidate for cancer risk assessment. For example, a BRCA gene test can check for variants in genes that increase a woman’s risk of developing breast or ovarian cancer.
Family planning and pregnancy - If you’re planning a pregnancy or are currently pregnant, you and your partner may be referred for blood tests that look for abnormal genes that can cause your baby to have health problems. These problems include genetic disorders such as sickle cell disease, thalassemia, Tay-Sachs disease and fragile X syndrome. Your doctor will determine if you have risk factors that support the need for testing.
Diagnostic testing - These tests are used to identify or rule out a specific genetic or chromosomal condition, or confirm a suspected diagnosis based on symptoms.

Hereditary cancers

It is estimated that five to ten percent of all cancers are inherited, meaning individuals within a family may be more likely to develop a certain type of cancer. Common indicators that cancer is hereditary include a history of:

Breast cancer, colorectal cancer or uterine (endometrial) cancer before age 50
Ovarian cancer at any age
Bilateral (both breasts) breast cancer or two primary breast cancers
Two or more breast and /or ovarian cancers in the family
Male breast cancer
Jewish ancestry and a family history of breast or ovarian cancer
20 or more pre-cancerous colon polyps
A known cancer gene mutation in the family, including the BRCA1 and BRCA2 genes

If any of these hereditary features are present in your family, it indicates the possibility that your family has a gene mutation., We encourage you to obtain a referral for genetic counseling from your doctor.

Genetic cancer counseling

Deciding to pursue genetic testing is a personal decision. Meeting with a genetic counselor gives you and your family an opportunity to consider all aspects of genetic testing, including information about inherited cancer genes, the medical facts about specific cancers, the risk of cancer associated with a particular gene and all your available options.

A meeting with a genetic counselor provides:

A detailed family history and risk factor assessment
Counseling about the pros and cons of testing and informed consent
A review of possible cancer management strategies
Information about cancer screening guidelines and preventive options
Emotional and psychosocial support

Genetic cancer testing

Genetic testing looks for mutations within specific genes. Having a gene mutation indicates that you’re at increased risk of developing a specific cancer. If you’ve had cancer, testing may indicate an increased risk for another cancer. Genetic testing can be helpful in guiding your and your family’s decision about how you manage your risks. For instance, carriers of a particular gene may choose to have more aggressive screening tests done on a regular basis or may consider other options that could lower the risk of cancer. Your test results may also inform your family members about their risks and whether they should take preventive measures.

If you decide to proceed with genetic testing, you’ll be asked to give your written consent before a blood test is done. Results are usually available within three to four weeks, when the genetic counselor will meet with you to discuss your results and what they mean.

Family planning and pregnancy

A genetic counselor, who specializes in family planning, can help you explore your risks of having a child with a genetic disorder or birth defect. Your counselor will guide you through the testing process, explain the results and help you and your partner make an informed decision about what’s right for you and your family.

Family planning

Because certain disorders are passed down in families, you may be a candidate for genetic counseling before you get pregnant. Talk to a genetic counselor if any of the following apply to you:

You or your partner have had genetic carrier screening indicating that your child could inherit a genetic disorder
Your baby's father is your first cousin or another close blood relative
You've experienced a stillbirth, three or more miscarriages of unknown cause, or a baby who died in infancy
You've had chemotherapy or have a medical condition, such as epilepsy or diabetes, which could directly affect your baby's health or require you to take medications that could affect his or her health

Learn how we help if you have a high-risk pregnancy.

Prenatal counseling

If you’re expecting a baby, you may want to talk to a genetic counselor if any of the following apply to you:

You'll be 35 or older on your due date. (The odds of having a child with a chromosomal abnormality such as Down syndrome increase with age.)
You had a positive result on your nuchal translucency screening or first trimester combined screening, noninvasive prenatal testing, or on your multiple marker screen.
Your ultrasound indicated a possible problem.
Your baby has been diagnosed with a genetic disorder through prenatal testing such as amniocentesis or chorionic villus sampling.