Skin Biopsy & Genetic Testing for Inherited Blood Cancer Risk

Skin Biopsy & Genetic Testing for Inherited Blood Cancer Risk

This handout explains what a skin biopsy for genetic testing is and why we recommended getting a skin biopsy to determine your risk for an inherited blood cancer. Because the result of this genetic testing may help us determine your treatment, and it takes several weeks to get results, we recommend getting a skin biopsy as soon as possible.

General questions

What is a skin biopsy for genetic testing and why do I need one?

A skin biopsy is when a small amount of skin is removed from the surface of your body and sent for testing. In this case, the DNA from your skin cells would be tested to find out if you have an inherited disorder that carries a risk of developing a blood cancer.

I have a blood cancer or have had a bone marrow (stem cell) transplant. Why can't you use my blood to do this testing instead of taking a skin biopsy?

If your blood already contains cancer cells, the DNA in your blood will not be able to tell us if a genetic change (called a mutation) is inherited. If you underwent an allogeneic bone marrow stem cell transplant, the blood in your body contains the donor's DNA, not your DNA. To get around these two challenges, we can take a skin biopsy from you and test the DNA from this skin.

Why would I want to know if I have a gene that increases my risk of developing a blood cancer?

Knowing this information will help create a care plan that may include treatment (such as a stem cell transplant and choosing a donor who does not carry the same inherited risk), surveillance, and family counseling.

Who is eligible for this type of test?

We recommend getting a skin biopsy for genetic testing if you:

? Have a personal history of a blood cancer or aplastic anemia and a close relative(s) diagnosed with cancer

? Were diagnosed with aplastic anemia, myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) before the age of 45.

? Have long-standing blood count abnormalities and a family history of blood count abnormalities or early onset cancers.

? Are a member of a family with a known or suspected inherited risk for developing blood cancer. ? Have a type of cancer that has a mutation in the bone marrow that may be inherited.

? 2021 Fred Hutchinson Cancer Center

March 2021

Patient and Family Education

Who does the skin biopsy? A hematology (heme) physician, nurse, or advanced practice provider will perform the skin biopsy and get your consent before the procedure.

Will I meet with a genetic counselor? What will they help me with? Yes, you will meet with a genetic counselor from Fred Hutchinson Cancer Center before and after the genetic testing is done. Before the testing, they will discuss the process and what results might mean. After your test results are in, they will discuss what the results mean for you and your family. Our genetic counselors also help arrange the genetic testing and discuss insurance coverage of the test with you.

How long does it take to get test results? It takes several weeks to grow skin cells from your skin biopsy and another several weeks for the genetic testing to show a result. This is why we recommend getting the skin biopsy done as soon as possible.

Is testing covered by my insurance? Your genetic counselor will work with you and your insurance to find out what's covered. In most cases, out-of-pocket costs are $350 or less.

Do I have to get the skin biopsy done now? No. If you are not interested in getting tested to see if you have an inherited risk of developing cancer (blood cancer that runs in your biological family), then you do not need to have a skin biopsy done now.

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