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Your guide to at-home BRCA testing

Are you considering BRCA testing through an at-home genetic test?

There are genetic tests available directly to consumers, with a sample collected at home, that provide a wide range of information from traits to ancestry, and even some health information. These genetic tests may be referred to as consumer-directed, direct-to-consumer or at-home genetic tests. For more information about these types of genetic testing, visit here, or view a recorded webinar on this topic titled "The Future of At-Home Genetic Testing” here.

Some people consider doing an at-home genetic test because they want to learn more information about themselves. Completing any at-home genetic test is a very personal decision. Submitting a sample may be simple, however understanding the results and living with the knowledge genetic testing brings is not always simple.

If a person has several relatives on one side of the family who have had cancer, they may want more information about their own chance to develop these same cancers. Specifically, at-home genetic testing is available that includes two genes called BRCA1 and BRCA2, also called “the BRCA genes”, that confer risk for hereditary breast, ovarian, and prostate cancer. For more information on these genes, visit here.

Get more information on BRCA genes

The FDA has currently approved certain at-home genetic tests for the BRCA genes, but there are important limitations that you should consider before you decide what test, if any, is right for you. It is equally important to have appropriate expectations about what next steps may need to be taken should you choose to purchase an FDA-approved, at-home genetic test for cancer risk. For example, the FDA does require the result of an at-home BRCA test to be confirmed with a clinical or diagnostic test that is usually ordered by a health care provider with specific genetics training.

If you are considering an at-home BRCA test, you may want to speak with a genetic counselor before you make a decision. Genetic counselors can help review your personal and family history, as well as explore why you are seeking this information, to help make sure you are getting the test that is most appropriate for you.

What to do if you have results from at-home genetic testing

If you have taken an at-home genetic test that looked at your risk for hereditary breast and ovarian cancer, there are some important next steps you should consider.

The results say I have a genetic mutation in one of the BRCA genes.

What does it mean?

  • Learning you have a gene mutation (sometimes called a genetic variant) in one of the BRCA genes means that you are at increased risk for developing certain types of cancer, especially breast, ovarian, prostate and other cancers.
  • Learning you have an increased risk does NOT mean you currently have cancer or are guaranteed to develop cancer in the future.
  • Both men and women with BRCA mutations are at increased risk to develop cancer, and both men and women can pass along the mutation to their children.
  • There are steps you can take to lower your risks or detect cancer at an earlier stage.

Get more information on BRCA1 and BRCA2 mutations

What should I do?

  • Before you take any action, it is important to speak with a qualified healthcare professional who has experience with genetic testing, like a genetic counselor.
  • The healthcare provider can order / coordinate “confirmatory testing.” This is testing done in a clinical genetics laboratory to confirm the mutation identified is accurate. Even FDA-approved tests require confirmatory testing.
  • At this time, confirmatory testing will likely be required by health insurance companies before recommended screening or interventions will be covered.

The results say I do not have a genetic mutation in one of the BRCA genes.

What does it mean?

  • Many at-home genetic tests use a technology that only looks at a few specific genetic mutations or variants.
  • If the test you took only looked for a few BRCA mutations, you are not getting a complete picture of your genetic risk.
  • There are also many other genes besides BRCA1 and BRCA2 that are associated with hereditary cancer risk, and each gene can have hundreds to thousands of different mutations.
  • Even if you are truly negative for a mutation in a gene associated with cancer, meaning that no known genetic risk is identified, you may still have an increased risk for cancer based on your family history or other factors.
  • There are many genetic and non-genetic factors that can increase the risk for cancer, and our ability to interpret genetic risk continues to improve over time.

What should I do?

  • Before you take any action, it is important to speak with a qualified healthcare professional who has experience with genetic testing, like a genetic counselor.
  • The healthcare provider will ask you about your personal and family history to get a better sense of whether a more comprehensive genetic test is appropriate for you. In some cases, additional testing may be covered by insurance if there is a strong family history. In other cases, additional testing may be an out-of-pocket expense.
  • Even if additional testing confirms you do not have an increased genetic risk for cancer, it is still important to work with your healthcare provider to determine the best prevention and screening approach for you based on your personal and family history.

Why should I care about the type of testing technology used?

There is quite a range of approaches that genetic testing companies use for their tests. Some tests only analyze a limited number of small changes in DNA that might have known links to certain traits (called genotyping). Other tests are more comprehensive and read through entire genes (called sequencing). It’s important to know which approach a company uses for their test, since this can have a big impact on the types of information that can be returned.

Not all genetic testing technologies are the same: Genotyping (arrays) vs. sequencing
 



To explain the difference between the technologies that read DNA, think of a book. Imagine the string of letters that make up your genetic code are like words on a page, telling a story, chapter by chapter.

Genotyping is like reading a few scattered words on a page. This is sometimes referred to as arrays, microarrays, or SNP testing (pronounced “snip”).

Sequencing reads whole sentences, paragraphs and chapters. This is sometimes called gene sequencing.

What is Genotyping?

Some genetic tests use the method genotyping for their genetic testing, as it is a quick and affordable method. If we were to compare this technology to reading a book, genotyping is like skimming a page to read a few highlighted words.

It’s important to realize there are limitations to this approach. For many genes, there are hundreds to thousands of mutations or variations that cause a certain trait or health problem. While genotyping might look for the most common of those mutations, the technology will miss out on detecting other, less common, mutations or variations.

If you took a test that used genotyping, there is a chance that a mutation or variant is present, but the test simply did not detect it because of the limitations of the technology.

What is Sequencing?

Another type of genetic testing uses sequencing to identify mutations or variants. This method of testing is more comprehensive than genotyping, as it can identify not only common mutations, but other, more unique, changes in DNA. In comparison to genotyping, sequencing is like reading through every letter of each word of the page, instead of a few selected words.

Why it matters?

Imagine you want to know about a specific genetic variation - one letter on a page. Using an array or SNP test (genotyping) that includes that variation can give you some powerful information, but it does not give you the full story. There can be hundreds or even thousands of other variations that can impact your risk for a condition, like cancer.

Results from at-home genetic testing that utilizes arrays or SNP tests should be confirmed by taking another medical-grade genetic test, as these types of at-home genetic tests are not regulated by the same standards as medical-grade genetic testing. Results from sequencing, when offered through a high-quality, certified lab, may not require additional confirmation testing.

Speaking with a qualified healthcare provider who understands genetic testing, like a genetic counselor, can be an important next step to determine whether additional testing may be appropriate for you based on the test you took plus your personal and family history.

Some key things to know about at-home BRCA testing

When considering at-home BRCA testing, it’s important to ask the question, “does the test use genotyping or sequencing?”

  • Why is it important?
    • Some tests on the market only perform genotyping for the three known Ashkenazi Jewish founder mutations. That means the test misses thousands of other known mutations in the BRCA1 and BRCA2 genes. For more information on Ashkenazi Jewish founder mutations, click here.
    • At-home BRCA testing performed using genotyping may require confirmation testing to be used for making clinical decisions, even if the test is FDA-approved
  • What are my other options?
    • There are many genes related to cancer beyond BRCA1 and BRCA2, so a test that looks at multiple genes at once might be most informative for some individuals.
    • Speak with a genetic counselor to learn more about what options are most appropriate for you based on your personal and family history.

Why speak with a Genetic Counselor?

You may want to meet with a genetic counselor to discuss your questions and what the most appropriate next steps are for you. Genetic counseling services may be offered through clinics and hospitals while others may be offered by telephone or video.

A genetic counselor can:

  • Review your results, how they impact your cancer risk and your own screening recommendations
  • Coordinate confirmatory testing to make sure your at-home DNA test results are accurate, if needed
  • Review your family history to identify other relatives who may benefit from genetic testing
  • Help you find ways to discuss this information with your relatives
  • Recommend any additional genetic testing related to cancer or other disease that may apply to you based on your personal and/or family history
  • Help you find the most affordable testing options and navigate insurance coverage for genetic testing
  • Help answer other questions you may have about your genetic health
  • Point you to quality, reliable resources for more information or to get connected with others who have similar information about their genetic risks

There are resources available to help you find a genetic counselor. Additional resources are also available on gathering your family history and protecting your privacy.

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