Color Informed Consent
Thank you for enrolling in the Wisdom Study as part of the Athena Breast Health Network at the University of California (“Wisdom Study”). Color Genomics, Inc. and its contractors (“Color”) are providing the genomic platform as part of the Wisdom Study. This Color consent document, which is in addition to the consent document from the Wisdom Study, reviews the benefits, risks and limitations of undergoing genetic analysis through Color for what we will analyze now and any that you may elect to have assessed in the future. This document also explains how we will use your sample and information as part of our service. We are unable to process your sample until you confirm that you have read and understand the contents of this document. While the reasons for using Color are described below, using Color is voluntary and the purpose of this document is to help you decide if you want to use Color. If you are not sure whether Color is right for you, you may wish to speak with a Wisdom Study Coordinator for further guidance.
The purpose of the Color test is to identify inherited genetic changes (mutations) that may increase your risk of developing diseases such as breast cancer that we currently analyze or for diseases that you may elect to have assessed in the future. For a comprehensive risk analysis, Color will ask you to provide a sample, which may be in the form of saliva or in some cases blood, and may ask you to answer questions about your Personal and Family Health Information to be able to interpret your genetic result. A Wisdom Study physician will order your test. Color will analyze your sample and the information you provide to deliver results accessible to you through the Wisdom Study Portal.
The following important terms appear in this document and are defined below:
Genetic Information: the information that Color derives from analysis of the DNA, or genetic material, contained in a sample that you provide to us, including any genes beyond those on which we currently report.
Personal and Family Health Information: information about your health and that of your biological family members, including social and demographic information such as ancestry, age and sex. Personal and Family Health Information also includes information about your personal history of certain health conditions, your family history of those conditions and any known genetic mutations in you or any of your family members.
Personally Identifiable Information: your name, address, telephone number, email address, or other information that would reasonably allow someone to identify you.
Through the Color test as part of the Wisdom Study, you can better understand your risk for breast cancer and other related diseases that we will analyze now or any that you may elect to have assessed in the future. Everyone has variations in their genes, which are changes in your DNA. Most variants do not usually cause problems, however, some variants change the DNA so much that the gene it encodes can no longer function properly. These variants are called mutations. Knowing you have a mutation in one of the genes analyzed enables you to work with your provider to create a personalized plan to potentially prevent or detect conditions at an earlier and potentially more treatable stage. Additionally, knowing that you have a mutation may be informative to biological siblings, parents, and children, who have a 50% chance of having the same mutation. If your family members choose to pursue testing, they can learn if they have inherited the same genetic mutation.
In addition to the benefits to you and your family, you can help others by advancing research on genetics and disease. Color will de-identify your variants and donate the de-identified variant information to public databases like ClinVar to advance medical research. ClinVar is a free, publicly accessible database managed by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health (NIH). As more individuals are tested, Color and other research institutions are better able to understand how human genetic variation impacts risk for diseases and other health conditions.
Genetic testing may cause you to discover sensitive information about your health or disease risks, including risk for diseases other than the one for which you are testing. Test results may reveal incidental, unsought information, such as discovering that a man is not the biological father of a child (i.e. non-paternity). The Genetic Information Nondiscrimination Act (GINA) of 2008 was enacted to prohibit discrimination on the basis of genetic information with respect to health insurance and employment. However, there are currently no federal laws that prohibit discrimination in life insurance, disability insurance or long-term care, which may be governed by state law. If you are providing a blood sample, a small amount of blood may be drawn and there is a small risk of bruising, a rare risk of infection, and you may feel lightheaded.
The Color test as used in the Wisdom Study is designed to detect inherited genetic changes in a specified group of 9 genes (BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, ATM, PALB2 and CHEK2) known to be associated with an increased risk for breast cancer and related diseases. No currently available test can detect every mutation associated with increased risk for breast cancer, and no test can analyze all genetic causes for breast cancer, as not all causes are known. Analysis of results is based on currently available information in the medical literature and scientific databases. Because literature and scientific knowledge are constantly being updated, new information may replace or add to the information that was used to analyze your results.
It is important to note that results indicating that no pathogenic mutation was found in the 9 genes (BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, ATM, PALB2 and CHEK2) do not guarantee that you or your family members will be healthy or will never develop any diseases. We may report results related to diseases other than the one for which you are testing, including increased risk for other cancers, but we are not providing a comprehensive analysis for these other diseases at this time. Additional testing may still be needed for these other conditions, and you should discuss any need for further testing of these other conditions with your healthcare provider.
Color’s genetic analysis as part of the Wisdom Study includes some genes for which there are no official medical management guidelines. In those cases, the Genetic Information in conjunction with Personal and Family Health Information will be used by the Wisdom Study staff (including certified genetic counselors) to determine your personalized recommendations for breast screening. Please note that identification of a mutation does not imply that your health insurance company will cover the recommended screening and risk-reducing or prevention procedures.
Color testing is highly reliable with >99% accuracy for targeted regions. Color implements several safeguards to avoid technical errors, such as 2-dimensional barcoding and barcode scanning at several steps throughout the sequencing process. However, as with all medical tests, there is a chance of a false positive or a false negative result. A false positive result means a genetic mutation was detected, which is not in fact present. A false negative result means the test failed to identify a genetic mutation that is in fact present. Other sources of error, while rare, include sample mix-up, sample contamination, and technical errors in the laboratory. In addition, some biological factors, such as a history of bone marrow transplantation or recent blood transfusions, limit the accuracy of results. Results interpretation may require you to accurately report your Personal and Family Health Information, as well as accurate reporting of family relationships and any previous genetic testing in the family.
The Color test may yield the following results:
Positive– Testing positive for a mutation means a mutation that increases your risk for breast cancer (and related diseases) was identified. This result does not necessarily mean that you have that disease or that you will definitely develop the disease in your lifetime. The Wisdom Study will create a personalized screening recommendation for you and your provider. Mutations that impact one type of risk can also increase the risk of other diseases. If we learn information about your risk for these other diseases due to a mutation in a gene we are analyzing, we will let you know.
Negative– Testing negative for a mutation means no mutations associated with an increased risk for diseases were identified in the in the 9 genes (BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, ATM, PALB2 and CHEK2) reported. While this can be reassuring, it does not eliminate your risk of developing disease. For example, environmental factors and family history without a known genetic link account for the majority of breast and ovarian cancers. It is important, regardless of your results, to follow the screening and prevention plan recommended by your healthcare provider.
Even if testing did not detect a risk-increasing mutation, your family may still have one that you did not inherit. Additionally, if your result is negative, your level of risk may be affected by whether any mutations were found in your relatives who have had disease, particularly at young ages. A negative test also does not rule out that you or your family has a risk-increasing mutation in a gene other than the genes that Color analyzed.
Variant of uncertain significance– It is possible to identify genetic changes that require further research to determine if they are associated with an increased risk for developing disease. These are called “Variants of Uncertain Significance.” To date, most have been eventually found to be harmless. If these variants are classified into a definitive category in the future, we may contact you to let you know about the new classification. Initially the Wisdom Study has opted not to report these variants but may choose to do so in the future.
Your privacy is our priority. Your information belongs to you, and you should know how we protect and what we do with your information and your sample.
HIPAA Compliance: Color complies with HIPAA requirements regarding Protected Health Information (PHI). All individuals with access to PHI at Color are fully trained on HIPAA, which governs how PHI can be used. In addition, we take several confidentiality and security measures, including assigning a unique code in the place of your name to your sample, Genetic Information, and Personal and Family Health Information. To facilitate our provision of Color services to you, however, if you have established an account with us, we will send you emails that make it clear that you have taken the Color test. For example, we may notify you via email when your sample has been received and is ready for analysis. Additionally, we may call you at the number you specified during kit activation to leave you a voicemail that may indicate that you have taken the test. By consenting to this document, you are agreeing to receive email and phone communications indicating that you took the Color test, and you can opt out of some of these communications about Color services by following the unsubscribe instructions provided in the email.
Sequencing and Re-Analysis: At Color’s discretion, we may choose to re-analyze test results and, if we do so, may contact the Wisdom Study about the re-analysis, and it will be in the discretion of the Wisdom Study to contact you about the re-analysis.
Data Use in Internal Research and Product Development: Your sample, Genetic Information and Personal and Family Health Information will be used by Color to analyze your sample and provide the results. We may share your sample, Genetic Information and Personal and Family Health Information with the Wisdom Study physicians and staff. Any data that Color does receive or generate may be stored and used for internal research, internal validation, educational purposes, and product development. This will help advance scientific research and improve genetic services in the future, and Color may have an economic interest in developing new services. Research that results in medical advances, discoveries or new products may have financial value, however, no compensation will be provided to you, even if analysis of your genes contributed to medical advances, discoveries or new products.
Sample Storage: Your sample and DNA (commonly referred to as DNA bio-banking) will be stored with the Wisdom Study team to allow you to have additional testing in the future. In addition, Color may retain your sample and any DNA derived from your sample for a period of six months in case retesting is required for the benefit of your results (the “Retention Period”). The primary sample and any DNA derived from the sample will be returned to the Wisdom Study team after this Retention Period.
Sharing Information: The analysis performed on your sample will shared automatically with the Wisdom Study team and be available to you on the Wisdom Study portal website. You should not make any medical decisions based on these results by yourself and we recommend consulting the Wisdom Study team and your healthcare provider to create a personalized screening and prevention plan. While we recommend that you share your Genetic Information and Family and Health Information with your family and healthcare providers, you are responsible for the consequences of sharing any information.
Color is interested in advancing research in genetics, so we de-identify your variants and donate the de-identified variant information to public databases like ClinVar. Personally Identifiable Information is not shared with the public databases.
I confirm that I have read or have had read to me, all of the information in this authorization and informed consent document, and I understand what it says. I have had the opportunity to ask any questions I may have had, and all of my questions have been answered to my satisfaction. I freely and voluntarily consent to participate in this genetic test for disease risk and any analysis of disease or genetic traits that I may elect in the future.
I specifically acknowledge and consent to the following:
- I am the individual providing the sample and I am at least 18 years of age.
- I understand that these test results will not tell me whether or not I have or will get disease in the future. These results will only tell me about my hereditary risk related to breast cancer and related diseases.
- I understand that, as part of the Wisdom Study, Color Genomics will only be analyzing the sequence of, and reporting results for, the following 9 genes: BRCA1, BRCA2, TP53, PTEN, STK11, CDH1, ATM, PALB2 and CHEK2. Color Genomics will not be analyzing the sequence of, or reporting results for, any other genes than the 9 genes that are explicitly listed above.
- I understand that I should not make any medical decisions based on these results by myself, and that Color recommends that I consult with the Wisdom Study team and my healthcare provider to review my personalized screening plan.
- I understand genetic counseling services are available to me through the Wisdom Study.
- I allow Color to use my Genetic Information and Personal and Family Health Information or any other data provided by the Wisdom Study team or the data they generate for internal research, internal validation, educational purposes, and product development, and no compensation will be provided to me, even if analysis of my genes leads to medical advances, discoveries, or new products. Color will donate my de-identified variants found to public databases like NCBI’s ClinVar, where anonymous genetic information is accessible to researchers to better understand the connection between genetics and disease.
Version date: August 29, 2015