Genetic Counseling Before Cancer Develops

This page is for people with no cancer diagnosis who are thinking about seeing a genetic counselor because of their family history. It covers what happens at the visit, when it makes sense to go, and how to find one.

A genetic counselor is a healthcare professional trained in both medical genetics and counseling. Seeing one before any cancer has developed is about two things. One is mapping your risk. The other is deciding whether a test would tell you anything useful. It is not about receiving bad news.

Most of a first appointment goes on your family history. The counselor works through three generations on both sides. Who had cancer? Which organ did it start in? At what age? Did anyone have more than one primary cancer? Ancestry is recorded too, because some populations carry founder variants. NCI notes that BRCA variants are more common in people of Ashkenazi Jewish descent.

From that map, the counselor works out whether the pattern looks hereditary. Then comes the second question: is there a test that would change what you do next?

People are referred, or refer themselves, for reasons like these:

• a variant already found in a relative
• cancer diagnosed unusually young in the family
• the same cancer in several close relatives on the same side
• one relative with two or more separate primary cancers
• rare patterns such as male breast cancer, ovarian cancer, or an unusual tumor type
• ancestry linked to founder variants

You do not need a doctor to tell you your history is worrying enough. Bring what you know. Even an incomplete picture is enough to start.

Has someone in your family had cancer? If they are willing and able to be tested, testing them first is usually more informative. If a specific variant turns up in them, you can then be tested for that one change. That gives a clear yes or no.

If you are tested first and nothing is found, the result is harder to read. It cannot tell you whether your family carries something the panel did not cover. This is called an uninformative negative. It is a common source of false comfort.

Sometimes no affected relative is available. They may have died, or declined, or contact may have been lost. Testing can still go ahead. You can be tested on your own, without any relative's help or permission. Your counselor will read the result with that limit in mind.

Pre-test counseling is meant to be a decision point, not a formality. It should cover:

• which genes the panel includes and which it leaves out
• what a positive, negative or uncertain result would each mean for your screening
• what each result would mean for your children and siblings
• cost and insurance coverage

It should end with written informed consent, meaning you sign to show you understand and agree.

It should also cover the legal picture. GINA (the Genetic Information Nondiscrimination Act) protects against health insurance and employment discrimination for most people. NCI notes it does not cover life, disability or long-term care insurance. Planning to buy or increase any of those policies? Then have that conversation before testing, not after.

Choosing not to test is a legitimate outcome of genetic counseling. Some people go through the whole assessment, learn where they stand, and decide a result would not change anything they are willing to do.

Even then the visit is rarely wasted. A documented family history can qualify you for earlier or closer screening whether or not you test. Management often follows the family history rather than the test result. The door also stays open. People often come back years later when things change, such as before starting a family.

Genetic counselors work in cancer centers and hospital genetics services. More and more work by telehealth, which has widened access a lot. The National Society of Genetic Counselors keeps a public directory you can search by specialty and location.

Direct-to-consumer kits are not a substitute. They check only a few variants, so a negative result does not rule out an inherited risk.

• NCI — Cancer Genetics Risk Assessment and Counseling (PDQ)
• National Society of Genetic Counselors — Find a Genetic Counselor
• National Human Genome Research Institute — Genetic Discrimination and GINA