CGI Informed Consent
This Informed Consent provides you with information regarding the benefits, risks, and limitations of the genetic test evaluation services, genetic counseling services, services to resolve or clarify genetic test results such as variants of uncertain significance, or any of the other services (collectively, “Services”) provided by Center for Genomic Interpretation (“CGI,” “we,” or “us”). This document also describes how your information will be de-identified (anonymized) and how this de-identified information you provide will be used, together with other de-identified information provided by other individuals, to improve the science and application of genetic variant classification.
TO PROVIDE YOU WITH CGI SERVICES AND TO UTILIZE YOUR DE-IDENTIFIED INFORMATION COLLECTIVELY WITH OTHER INDIVIDUALS FOR THE ADVANCEMENT OF SCIENCE, YOU MUST CONFIRM THAT YOU ACKNOWLEDGE THAT YOU HAVE READ, UNDERSTOOD, AND AGREE TO THIS INFORMED CONSENT BY CHECKING THE BOX LABELED “I ACKNOWLEDGE AND AGREE TO THE CGI TERMS OF SERVICE.”
Description of CGI Services
CGI IS NOT A GENETIC TESTING LABORATORY AND DOES NOT OFFER GENETIC TESTS. ALL GENETIC VARIANT CLASSIFICATIONS, GENETIC TEST REPORT EVALUATIONS, COMMUNICATIONS, AND ALL OTHER INFORMATION FROM CGI TO YOU ARE FOR RESEARCH PURPOSES ONLY AND NOT FOR CLINICAL USE. CGI RECOMMENDS THAT YOU ALWAYS CONSULT WITH A GENETIC COUNSELOR OR OTHER QUALIFIED HEALTHCARE PROFESSIONAL BEFORE MAKING ANY DECISIONS BASED UPON GENETIC TEST DATA.
CGI helps you to better understand the results of your genetic test by offering interpretive services for genetic tests. On a scale of decreasing potential severity, individual differences (variants) in your DNA may be classified as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance, Likely Benign, and Benign. Many factors influence the classification of a genetic variant. Genetic variants may also be re-classified as additional information becomes available.
CGI uses a variety of methods to help you to: (a) verify whether the classification you have received for your identified variant from a genetics laboratory has sufficient supportive evidence, (b) confirm if the classification of the variant in your genetic report is correct or obtain the correct classification of your identified variant, (c) gather additional evidence toward the correct classification of your identified genetic variant. CGI also uses de-identified and aggregated genetic information to advance the science and application of genetic variant classification to improve the accuracy of genetic testing. De-identification means that any Personally Identifiable Information (PII) or Protected Personal or Family Health Information (PHI) associated with you or your genetic information will be removed prior to its use for scientific research.
Benefits of CGI Services
As genetic test results may influence medical treatment decisions made by you or your family members, CGI offers expert evaluation of your results so you can be better educated and more confident about the potential impact of the identified genetic variant(s) on your health. Not all genetic variant classifications that you might receive from a genetic test are correct. Just like any medical procedure, clinical interpretations of physiological data may be correct or incorrect and may also be complete or incomplete. By accessing CGI Services, you benefit from having independent experts review the information from the genetic laboratory documented in your genetic test report and perhaps identify additional valuable supportive or conflicting information in the scientific literature, in our genetic variant database, or in your own personal family pedigree.
Risks of CGI Services
By accessing CGI Services, you may find that our conclusions agree or conflict with those of the genetic testing laboratory that issued you your original report. You may find out that additional family members also have the genetic variant identified in your genetic test report. This additional information may cause you or your family members to discover information about your health or risk of disease and may influence your medical decisionmaking.
Limitations of CGI Services
ALL GENETIC VARIANT CLASSIFICATIONS, GENETIC TEST REPORT EVALUATIONS, COMMUNICATIONS, AND ALL OTHER INFORMATION FROM CGI TO YOU ARE FOR RESEARCH PURPOSES ONLY AND NOT FOR CLINICAL USE. CGI RECOMMENDS THAT YOU ALWAYS CONSULT WITH A GENETIC COUNSELOR OR OTHER QUALIFIED HEALTH PROFESSIONAL OR THE LABORATORY THAT ISSUED THE ORIGINAL GENETIC TEST REPORT BEFORE MAKING ANY DECISIONS BASED UPON GENETIC TEST DATA. THE LEGAL RESPONSIBILITY FOR THE GENETIC VARIANT CLASSIFICATION AND THE IMPLICATIONS THEREOF REST SOLELY ON THE GENETIC LABORATORY THAT ISSUED THE ORIGINAL GENETIC TEST REPORT.
Clinical genetics is continuously advancing and developing new and novel approaches to understand how our genes influence our lives. Just like much of medical science, we cannot yet know with certainty all the factors that influence our health. Genetic variant classifications are reviewed on a regular basis and the current classification may change as more information is made available. This process is known as variant reclassification. In some instances, reclassification of a genetic variant may change the clinical diagnosis, prognosis, or the specifics of a therapeutic regimen you originally received.
CGI cannot overturn a genetic variant classification issued in a genetic report by a genetic laboratory. At your request, CGI can and will discuss any conflicts in classification with the laboratory that issued the original report. CGI will issue a genetic variant classification that we believe is correct based on expert evaluation of available scientific data.
Privacy and Data Security
As common practice in many of our Services, we request that any information provided by you to CGI be de-identified prior to submission to CGI. This means that we ask that you erase, black out, or simply not provide information that may be relevant to you as a patient for clinical purposes but is not relevant for CGI Services that solely collect and utilize data about genetic variants and the scientific evidence surrounding the classification of a genetic variant to help you better understand your genetic test report or your family history.
In the CGI database, all data will be correlated to a patient ID number. CGI complies with the applicable requirements of HIPAA (Health Insurance Portability and Accountability Act of 1996) (and as amended; https://www.hhs.gov/hipaa/index.html). However, we cannot guarantee the security of any information you transmit to CGI or choose to store on the CGI website or database, and you do so at your own risk. Any PII or PHI that you provide to CGI through the CGI website, data uploads, email communications, or other means is freely provided and therefore not subject to HIPAA guidelines (https://www.hhs.gov/hipaa/index.html). You agree that CGI is not liable for the unauthorized release of your PII, PHI, or any results or medical information, unless the release was the result of gross negligence or willful misconduct on the part of CGI. In the event of a data breach or release of PII or PFHI, CGI intends to comply with all federal and state reporting requirements.
CGI abides by the laws of the United States governing privacy and data security. By agreeing to this Informed Consent, you agree that the laws and regulations of the United States govern CGI’s activities regarding data privacy and the collection, use, processing, and storage of such information.
Use of Information
By agreeing to this Informed Consent, you agree that the data you provide to CGI may be de-identified and be stored and used by CGI for internal quality control, verification and validation studies, research and development, and to provide you with information regarding your identified genetic variant.
By agreeing to this Informed Consent, you also agree that your de-identified information may be aggregated with other de-identified information from other individuals for use by CGI to advance the science and application of genetic variant classification.
Retraction of Consent
If you choose to retract your consent, you must notify CGI in writing at firstname.lastname@example.org immediately. If upon notification CGI has not already included the de-identified information you provided in our database, CGI will prevent the inclusion of your de-identified data into the CGI database, your information will not be used for the purposes outlined above, and any PII or PHI will be expunged from our website and system. If upon notification CGI has already included the information you provided in our database, any personal information of contact information will be expunged from our website and system.
- I am the individual providing the information, or I have legal authority to provide the information on behalf of another individual, and that I am at least 18 years of age.
- The information I have provided is correct and accurate.
- CGI Services are intended for research purposes only and are not intended to be directly used for diagnostic, prognostic, or therapeutic purposes without .
- I should not make medical decisions based on these results without first speaking to a genetic counselor, another certified healthcare provider, or the genetic laboratory that issued the original genetic test report.
- Genetic variant classifications are subject to reevaluation and reinterpretation and may be reclassified upon evaluation of additional relevant data.
- I provide any personal and health information freely and therefore this information is not subject to HIPAA guidelines.
- My personal information will be transferred and stored at CGI in the United States analysis, use, processing, and storage and is subject to the laws, rules, and regulations of the United States.
- My de-identified information and results may be aggregated with other de-identified data and may be used for internal quality control, verification and validation studies, and research and development.
- If I choose to revoke consent, my de-identified data will still be used in the CGI database for the advancement of the science and application of genetic variant classification to improve the accuracy of genetic testing, but any PII will be expunged.