Helping Others Get Tested to Save Lives
If you know about a specific genetic variant that causes cancer in your family, you can help your relatives get tested. This could save their lives. If they know they have the variant, they can get access to preventive measures like more frequent screening or risk-reducing surgeries. Not everyone with a cancer predisposition variant will get cancer, but many do. There are accepted medical guidelines to help prevent cancer for people with these variants.
Navigating the health care system and trying to get genetic testing can be difficult. Here is what you can do to help relatives get genetic testing for your family's variant.
Provide your original genetic testing report to your relatives
Genetic testing for variants is a very specific process. It is important for your relatives to know exactly what variant they need to get tested for. Just having the gene name is not enough. It is best if your relatives have a report that lists the following information:
- Gene name
- cDNA position (c.)
- protein position – not always available depending on the genetic variant (p.)
- The name of the laboratory that did the testing (often found in a logo on the top of the report)
- Accession number (the number the lab uses to reference your particular sample)
- The variant of interest should be labeled "Pathogenic" or "Likely Pathogenic". Some variants are called variants of uncertain significance; these are not used to manage medical care and are typically not tested in relatives.
All of this information is usually included on the first page of your report.
Note: You may have more than one variant of interest. It can be helpful, but is not necessary to figure out whether you inherited your variants from one parent, or different variants from different parents, so you can contact relatives about the appropriate ones on their side of the family.
Note: One or more of your variants might be de novo, meaning it is a new change in you that was not passed down from your father or your mother. This is a rare occurrence. Relatives do not need to be tested for the de novo variant because they are not at risk of having it. It can be helpful to figure out whether a variant is de novo before contacting relatives about testing.
Types of genetic testing
There are different types of genetic testing available. Known mutation testing, also known as familial mutation testing, known familial mutation, targeted mutation testing, or familial variant analysis, is when your relative's DNA gets tested only for your family's cancer predisposition variant. This type of testing is usually done at the same laboratory where you received your original testing. This testing is typically covered by insurance and is usually the cheapest type of genetic testing available.
Your relative may also be offered a genetic testing panel, where DNA is tested for lots of different variants in lots of different genes. A genetic testing panel may be ordered for people who have not found a genetic cause for their own disease or their family's disease or who may have cancer risk from both sides of their family. You might have had a genetic testing panel that identified your genetic variant.
Single-gene testing or single-gene sequencing might also be offered. This is when a patient's DNA is tested for all variants in one particular gene. Single-gene testing tends to be ordered in very specific disease contexts or for billing and insurance reasons.
In your family's case, known mutation testing will probably be the most useful genetic test for your relatives.
Getting tested through a health care provider
One of the best ways to get testing is by making an appointment with a genetic counselor. Genetic counselors are trained to help patients navigate the complicated health care system, understand genetics concepts, and manage follow up of genetic test results. You and your relatives can find certified genetic counselors by searching the National Society of Genetic Counselors.
You can search by zip code, state, or hospital or clinic (institution/organization) name. Choose "Cancer" in the Types of Specialization box and check "Sees Patients" on the Filter Search Results section at the bottom.
If a genetic counselor is not available, your relatives can get tested by visiting another health care provider such their primary care provider, an oncologist, or a medical geneticist. A copy of your genetic test result will help your relative's provider order known mutation testing for your variant.
Getting genetic testing covered by insurance can be a tricky process and depends on each individual insurance policy. Many genetic testing orders will go through a "pre-authorization" process, in which the insurance company determines whether it will pay for the cost of genetic testing and how much of the cost it will pay. Known mutation testing is usually, but not always, covered. Genetic testing laboratories may have a Financial Assistance Plan for individuals who do not have insurance or for individuals who have a high out-of-pocket price.
Most genetic testing laboratories have a self-pay option for individuals who do not get their testing covered by insurance. You should contact the specific laboratory for details on the pricing. Sometimes there is a discount if a patient pays the entire price upfront. Prices can also depend on the institution, hospital, or clinic that orders the testing for the individual.
Understanding the results and their effects on medical care
For known mutation testing, in which a relative gets tested for your family's variant, there are a few expected results:
- A positive result means the relative has the variant. This means that the relative is at an increased risk for developing cancer related to that variant and requires changes to their medical care. These changes include preventive measures to reduce cancer risk such as more frequent cancer screening or risk-reducing surgeries. Knowing about a positive result can save your relative's life by helping catch cancer early.
- A negative result means that the relative does not have the variant. A relative with a negative result should follow general cancer prevention guidelines or an individual health plan based on their risk factors, personal health history, and family health history. If the relative has had cancer, their cancer could be due to chance, other risk factors, or another genetic variant.
- In rare situations, a laboratory may see a different genetic variant that requires medical attention. There are different ways of handling these "secondary findings", which your relative will discuss with the health care provider who ordered the genetic test.
What if my relative doesn't want to get testing?
As the old saying goes, "You can lead a horse to water, but you can't make it drink." The same applies here. "You can talk to your relative about cancer risk, but you can't make them act on it." Even if you do not agree with it, your relatives might have other priorities in their lives. They may want to get tested later, such as after dealing with a difficult family or work situation or after applying for insurance. They may end up getting tested but decide not to inform anyone, or they may decide not to share their results. It is important to respect their decisions no matter how they are related to you.