Women's Genetic Counseling

What is Genetic Counseling?

Genetic counselors offer information about how genetic conditions might affect you or your family. By assessing your personal and family history, genetic counselors can help you decide whether a genetic test might be right for you or a relative. Genetic counselors provide guidance needed to understand genetic testing results.

Although the popularity of direct-to-consumer (DTA) genetic tests has increased with claims to be able to trace a person’s ancestry through a sample of DNA, these types of tests do not determine whether you will get a disease and should not be used alone for decisions about your treatment or medical care.

What is Genetic Testing?

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins. For healthcare professionals, specifically genetic counselors, clinical genetic testing provides a treasure trove of useful information to help determine a patient’s risk for certain health issues such as cancer, and the risks of a current or potential pregnancy for genetic syndromes, chromosome abnormalities, intellectual disability, or birth defects.

There are many types of genetic tests. The approach to genetic testing is individualized based on your medical and family history and the condition for which you are being tested. The three types of genetic testing are:

Single gene testing - this test looks for changes in only one gene. Single gene testing is conducted when your doctor believes you or your child have symptoms of a specific condition or syndrome.
Panel testing – this genetic test looks for changes in many genes in one test. Genetic testing panels are usually grouped by categories based on different kinds of medical concerns.
Large-scale genetic or genomic testing - there are two large-scale genetic tests:

• Exome sequencing looks at all the genes in the DNA (whole exome) or just the genes that are related to medical conditions (clinical exome).

• Genome sequencing is the largest genetic test and looks at all of a person’s DNA, not just the genes.

There is no single genetic test that can detect all genetic conditions.

Who Should Get Genetic Testing?

A genetics evaluation can help an individual determine whether she has inherited an increased risk for cancer. It can also determine if your pregnancy is at risk for genetic syndromes, chromosome abnormalities, intellectual disability, or birth defects.

Our Genetic Counseling Programs

Our team of genetic specialists provides a comprehensive genetics evaluation that includes:

• A risk assessment based on personal and family history
• Analysis of genetic testing options
• A review of cancer screening and management options
• Counseling on hereditary cancer syndromes
• An understanding of routine prenatal screening and testing options for those with or without any identified risks.

Chanika Phornphutkul, MD, is the director of our division of genetics.

Cancer-Related Genetic Counseling

Genetic counseling and testing may be recommended for people who have had certain cancers or certain patterns of cancer. Women should consider a genetics evaluation if they meet any of the following criteria:

• Personal history of cancer, such as breast or colon cancer, under the age of 50
• Two or more first-degree relatives on the same side of the family who have been diagnosed with cancer
• More than one primary cancer (such as two primary breast cancers, or primary colon cancer and primary stomach cancer)
• More than one type of cancer
• A rare type of cancer
• Triple negative breast cancer before age 60
• A known genetic mutation in a cancer susceptibility gene in the family
• Ashkenazi Jewish descent (Eastern European Jewish)

Pregnancy-Related Genetic Counseling

If you’re pregnant or looking to become pregnant, genetic screening and diagnostic testing can give you and your doctors insight into your baby’s health. Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.

• Screening tests include carrier screening, which can be completed before or during pregnancy, and prenatal genetic screening, which includes blood tests and ultrasound exams.

The Benefits of Genetic Testing and Counseling

A genetic counselor will help you decide if you should consider genetic testing and will guide you through an understanding of your results.

If you have a family history of a genetic condition, symptoms of a genetic condition, or want to determine your chance of having a genetic condition, a genetic counselor can offer you the best advice for your next steps.