Informed Consent
Last Updated: April 4th, 2023
This Informed Consent reviews the benefits, risks and limitations of undergoing genetic testing (“Test(s)”), as described in further detail below) provided through Aiwa Health Inc. DBA Probably Genetic and its contractors (“Probably Genetic”). It also explains how your information and sample will be used in connection with the Test(s) and for other healthcare purposes as permitted by applicable law or regulation. Throughout this Informed Consent, “you”, “your”, and “I” refer to the person whose information and sample is being provided for the Test(s). If you are a parent or guardian requesting the Test(s) for a minor or a person receiving your care, “you” will refer to “your child” or “the person receiving your care”, as the context requires. In order for us to process your sample and provide you and your healthcare provider with your results, you must confirm by acknowledging that you have read, understood, and agreed to this Informed Consent. You are not required to have the Test(s). Prior to signing or accepting this Informed Consent, you may wish to speak with a healthcare provider about the Test(s).
The Tests and the Laboratory
The Tests we offer aim to detect clinically relevant variations within your genome, or your DNA, including, but not limited to, the protein-coding regions of your genes, such as Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS) and additional genetic assays. The Tests have the potential to rapidly and efficiently detect disease-causing genetic variations in the human genome, subject to the limitations of the Tests described below. The clinical relevance of these variations is informed by published evidence. Probably Genetic may therefore generate sequence data up to and including the entire genome. This data may be used as described in this Informed Consent.
Probably Genetic contracts a clinical testing laboratory that is accredited by the College of American Pathologists (CAP) and meets the certification requirements for high complexity testing established under the Clinical Laboratory Improvement Amendments (CLIA). Results are not intended as the sole means for clinical diagnosis or patient management decisions.
Risks of Genetic Testing
Physical risks. Generally, genetic tests have limited physical risk. Genetic testing can have emotional, social and financial risks. It is strongly advised that you have a counseling session with a geneticist or physician to go over your genetic testing results. Consulting a psychotherapist could also provide emotional and psychological support.
Receiving genetic testing results can cause worry. Concerns about the results of the Test(s) make many people feel uneasy, worried or anxious. People may also feel angry, depressed, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. We strongly recommend that you speak to a genetic counselor or your physician throughout the testing process.
Once you have the results of a genetic test there is no unlearning them. This is why it is important to be very sure about the decision you make, and why it is important to discuss your decision with a genetic counselor or another trained healthcare professional. Remember that making an appointment to have a discussion does not mean that you have to go ahead with testing.
Even though a genetic test may confirm a diagnosis, there may be no intervention or treatment available. Such an outcome may have emotional, legal, or economic implications. For example, in a worst case scenario you could find out that you or your child has a genetic condition that may be fatal in the long term without an available treatment.
There may be errors or delays in testing and its results. Genetic testing may be delayed, indeterminate or falsely negative due to errors in sample collection, technical limitations of current tests, or the patient’s prior medical treatments such as a bone marrow transplant. Testing delays or errors can occur because of sample mishandling, misidentification, or contamination. Additional samples from the patient may be requested if this occurs which will cause delays in obtaining the test results.
Negative test results may not rule out a subsequent disease diagnosis. A "normal" or negative result does not exclude the possibility that the patient has a genetic condition or a particular disease or diagnosis. Testing may not identify genetic alterations below the technical limitations of the test(s), or the test(s) may not be designed to identify every type of alteration present in different people. In some people a gene or chromosome change (mutation) cannot be found. This does not necessarily mean there is no change. Some genetic mutations are very difficult to find with current laboratory techniques. Genetic counseling is strongly recommended to further understand the result, risks, benefits and limits of the test(s) ordered by your healthcare provider. Please feel free to contact us for details on how to access genetic counseling.
You should not make medical decisions based on your test results without the advice of your physician. The test results may contain important information that you and your physician should consider together before you act on any of the test results. We strongly recommend that you speak to a genetic counselor or your physician about your test results.
Your genetic information could be used to your disadvantage. The Genetic Information Nondiscrimination Act or GINA prohibits discrimination on the basis of genetic information with respect to health insurance and employment. However, certain exceptions apply and currently no US federal laws prohibit discrimination in life insurance, disability insurance or long-term care insurance. Each state may have differing protections of your genetic information. While we adhere to a strict privacy policy, it is possible your genetic information could be compromised and used to raise the prices or result in denials of the insurances described above. Failure to disclose that you have been tested or have results when asked by an employer, potential employer, or insurer may constitute fraud.
Benefits of Genetic Testing
A genetic test might be able to tell you about your or your child's genetic makeup. For some people this relief from uncertainty is very important, even if the news is bad. If the news is good, such as a mild prognosis, it can mean a tremendous sense of relief.
A genetic test can help diagnose a genetic condition. When someone has an accurate diagnosis, an appropriate treatment may be possible, and you may have a better chance of finding support. If a genetic test tells you that you have an increased risk of developing a condition later in life (such as cancer) you might be able to go for more regular check-ups or take other measures to keep the risk to a minimum.
The results of a genetic test can provide useful information when planning for future children. If you know you and your partner are at high risk of having a child with a genetic condition, it may be possible to test the unborn child during pregnancy. Knowing you have an increased risk of having a child with a genetic condition might give you the opportunity to be more mentally and practically prepared.
Genetic conditions often run in families, information about your genetic makeup might be useful to other family members. If family members are aware that a genetic condition runs in the family, it might prevent them from being misdiagnosed. This information might also be of use to them when they are planning children.
Consent
I confirm that I have read or have had read to me, all of the information in this Informed Consent, and I understand what it says. I have had the opportunity to ask any questions I may have about the Test(s) and this Informed Consent, and all of my questions have been answered to my satisfaction. I freely and voluntarily consent to undergo this testing, and I specifically acknowledge and consent to the following:
- The sample being provided is mine and I am at least 18 years of age, or if consenting for someone else, I am at least 18 years of age and have the legal authority to consent for such a person whose sample is being provided. If the sample being provided is from someone under the age of 18, I represent that I am the parent or legal guardian of the person being tested.
- The reported results and information are intended solely for use by a provider and do not constitute medical advice by Probably Genetic. I should not make any medical decisions or medication changes based on these results without speaking to a genetic counselor, my primary care physician, or another medical doctor first.
- The reported results and information will include primary findings, where applicable, and might in addition include secondary findings. Primary findings are genetic variations directly related to the patient’s symptoms. Secondary findings are genetic variations in specific genes not related to the patient’s symptoms, but associated with an increased or actionable risk for a specific disease condition. I am aware and consent to receiving both primary and, where applicable, secondary findings.
- My sample will be sequenced for the genes and regions identified in the Test(s). My de-identified genetic information, personal health data, and results may also be stored and used for (1) internal quality assurance, (2) internal validation studies, (3) improvement of all current product areas that Probably Genetic offers, (4) business intelligence, (5) in publications authored or co-authored by Probably Genetic, disclosing only aggregated information (publications may include, for example, de-identified family history), and (6) for developing and offering new products and services and for the commercialization of services, therapeutics, diagnostics and other offerings with a third party.
- If a minor will be tested, I further acknowledge and understand that while genetic report information may be similar for adults and minors, the consequences of genetic testing of minors are relatively new and less understood. The National Society of Genetic Counselors recommends that the social, psychological and legal risks and benefits of early identification of genetic issues from the perspective of the minor and parent/guardian be carefully considered and include genetic counseling when discussing adult onset disorders.
- I authorize any holder of my medical information to release those records for this testing to Probably Genetic.
- I am aware that, if I choose to participate in a sponsored testing program by Probably Genetic, my de-identified genetic and self-reported information, as well as other data collected and inferred by Probably Genetic, including my non-specific location, diseases I might be affected by, and the contact information of my healthcare providers, may be shared with Probably Genetic’s customers and partners for research and commercial activities. Probably Genetic, its customers, and its partners may contact my healthcare provider. Recipients of my de-identified data are prohibited from attempting to re-identify me.
- I also hereby acknowledge that my genetic and self-reported information, as well as other data collected and inferred by Probably Genetic, may be shared with my treating physicians and any healthcare providers for which I have provided information.
- I agree to the Probably Genetic Terms of Service, Privacy Practices, and Notice of Privacy Practices, which I have been provided or are available at probablygenetic.com or upon request.
