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Genetic Testing for Hereditary Cancer Risk

Hereditary cancer is caused by an inherited genetic mutation. Approximately, 10-15% of most cancers are due to inherited genetic mutations. In these families, it is typical to see a recurring pattern of cancer across two to three generations—like multiple individuals diagnosed with the same type of cancer(s) and individuals diagnosed with cancer much younger than average.

A mutation can greatly increase your risk for developing cancer. Mutations in the genes that increase risk for cancer are not that common, but when present they significantly increase the chances someone might develop cancer in his or her lifetime.

For example, a BRCA1 mutation can increase a woman’s chance of breast cancer up to 81% and ovarian cancer up to 54% by age 80.

Your provider may adjust your screening plan if you have a mutation.

Knowing that you have a mutation that increases your risk of developing cancer allows you and your healthcare provider to create a personalized screening plan, which increases the chance of early detection.

The Diagnostic Center for Women is partnering with Color to offer comprehensive genetic testing for 8 different types of cancer (Breast, Ovarian, Colon, Uterine, Melanoma, Stomach, Pancreatic and Prostate) to any person who is interested in learning if they have an increased risk for hereditary cancer.

Please Call: 305-740-5100 x 2250 to schedule an appointment or for more information.

Call us to request an appointment at 305.740.5100
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What is the Color Hereditary Cancer test?

The Hereditary Cancer Test analyzes 30 genes—including BRCA1 and BRCA2—to help women and men understand their risk for common hereditary cancers. Women and men who use Color will learn about their genetic risk for hereditary breast, colorectal, melanoma, ovarian, pancreatic, prostate, stomach, and uterine cancers. This information is important to their own health, as well as the health of their relatives.

What genes does the Color Hereditary Cancer test include?

Color carefully selected our 30-gene panel based on scientific studies showing strong association with risk of the most common types of hereditary cancer. In certain genes, only specific positions known to impact cancer risk are analyzed. Color results reports include references to relevant literature and appropriate medical guidelines as available.

The 30 genes on Color’s panel are: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4*, CDKN2A(p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM*, GREM1*, MITF*, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2**, POLD1*, POLE*, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53

* Only positions known to impact cancer risk analyzed: CDK4: only chr12:g.58145429-58145431 (codon 24) analyzed, EPCAM: only large deletions and duplications including 3’ end of the gene analyzed, GREM1: only duplications in the upstream regulatory region analyzed, MITF: only chr3:g.70014091 (including c.952G>A) analyzed, POLD1: only chr19:g.50909713 (including c.1433G>A) analyzed, POLE: only chr12:g.133250250 (including c.1270C>G) analyzed.

** PMS2: Exons 12-15 not analyzed.

Will the Color Hereditary Cancer test tell me if I have cancer?

No. Color test is not designed to test for the presence of a cancerous tumor, and it will not tell you if you do or do not have cancer. It may tell you if you have an increased chance to develop cancer in your lifetime.

Does Color offer testing to children?

Color is not currently available for individuals under the age of 18.

Why do I need to provide my health history?

The information you provide about your personal and family health history is used along with your Color genetic test results to better interpret and personalize your report. Your results will incorporate the information you provide, along with nationally published screening and prevention options to discuss with your healthcare provider and create a personalized screening and prevention plan.

What happens in my saliva or blood sample cannot be processed?

The quality of every sample is checked multiple times as it moves through the sequencing and interpretation process.

Occasionally, a sample will not pass quality control checks. This can happen for a variety of reasons, such as an insufficient amount of DNA, or contamination (for example, from food or bacteria in your mouth). If this occurs, we will contact you right away to discuss the next steps.

What if I don’t have access to my family’s health history?

Don’t worry. Many individuals do not have access to the health history of all or part of their biological family. On the health history form, you can make estimates when possible or indicate that you do not have access to this information. Color will work with the information available to provide you with a personalized risk profile.

What is the Color Family Testing Program?

If an individual has a mutation, there is a 50% chance that each of their first-degree relatives also has the same mutation. To increase access to this important information, Color and the BRCA Foundation have partnered to offer genetic testing to parents, siblings, and adult children of people with mutations for a special price.

What is the risk to my relatives if I have a mutation?

Most mutations are inherited from your mother or your father. This means that your relatives on that side of the family may also have the same mutation. Additionally, each of your siblings and each of your children has a 50% chance of inheriting this mutation.

Why is it important for relatives of mutation carriers to be tested?

Knowing that you have a mutation allows you and your healthcare provider to create a personalized screening plan, which increases the chance of early detection.

Learning that you haven’t inherited a family mutation is useful information as well, as it means your children will not inherit it.

When will my results be ready?

Color’s emphasis is on providing you with the highest quality results possible, and that means giving individual attention to every sample. Our average turnaround time is currently 3-4 weeks from the day your sample is received at the laboratory, but the actual time will be subject to the data associated with each unique sample. If you purchased multiple tests, some results may be available sooner than others.

We will notify you via email each step of the way: when your kit has shipped, when you’ve successfully activated it, when your sample has arrived back at the lab, and when your results are ready.

What is a genetic counselor?

Genetic counselors are medical professionals with specialized training in genetics at the graduate level, similar to a nurse practitioner. They are experts at understanding and explaining how genetics plays a role in health and disease, including cancer. To learn more about genetic counseling and search for a local genetic counselor by ZIP code, you can visit the National Society of Genetic Counselors website (www.nsgc.org).

Is there a cost to consult with a Color Genetic Counselor?

Your consultation with a genetic counselor from Color’s clinical team is complimentary with your Color purchase. You are encouraged to make an appointment with a Color genetic counselor to discuss your results.

Are there any protections against discrimination based on my results?

HIPAA:

HIPAA is the Health Insurance Portability and Accountability Act enacted in 1996. This law governs how protected health information (PHI) can be used. Color rigorously follows the standards established by HIPAA, which is the same standard followed by hospitals and other healthcare institutions. Our adherence to HIPAA means that all personally-identifiable health information is encrypted and stored safely. At Color, the only individuals with access to results are those who need it in order to provide services to you. For example, the genetic counselor with whom you make an appointment will have access to your results so that you can fully discuss any questions related to your results.

GINA:

In 2008, a federal law called the Genetic Information Non-Discrimination Act (GINA) was passed to prohibit medical insurance companies and employers from discriminating against individuals on the basis of genetic information, which is defined to include genetic test results, family cancer history, and the fact that genetic testing occurred.
For example, Section 202(a)(1) of GINA provides that it is unlawful “to fail or refuse to hire, or to discharge, any employee, or otherwise to discriminate against any employee with respect to the compensation, terms, conditions, or privileges of employment of the employee, because of genetic information with respect to the employee.”

How does genetic testing affect life insurance, long-term care, or disability insurance?

GINA does not extend to life, disability, or long-term care insurance, which may be governed under state law. Protection against these types of insurance discrimination may vary by state. Individuals may consider purchasing these policies prior to undergoing genetic testing.