This consent form reviews the benefits, risks and limitations of undergoing DNA testing for the genetic disorder(s) available through Counsyl, that has been prescribed for you. Your sample will not be processed unless you or your provider confirm that you have read and understood the contents of this form. This is a voluntary test. You may wish to seek genetic counseling prior to agreeing to this form.
This test analyzes specific changes in your DNA called mutations. Certain mutations can make it more likely that you could pass on a hereditary condition through a pregnancy. You may use this information to inform your decisions in preparing for a family. Information about diseases, such as description, course, and possible treatments, may be found in the Family Prep Screen section of our website. For most of the conditions on the panel, both parents must carry a mutation in the same disease gene for their child to be at risk to be affected. This is called an autosomal recessive manner of inheritance. There are, however, a few diseases on the panel that can be transmitted when only one parent is a carrier. Fragile X is an example of a disease that requires only one parent to carry the mutation in order to be passed on. For some conditions on the panel, such as Gaucher’s disease, it is possible to be diagnosed with a form of the condition that does not appear until adulthood (i.e., adult-onset). You can speak with your ordering physician about opting out of testing for a disease with mild or variable severity (such as Alpha-1 Antitrypsin Deficiency) and/or adult-onset implications.
If you have a family history of one of the conditions on the Counsyl panel, you should inform the laboratory of the specific gene mutation(s) present in your family. Screening for the diseases on our panel may significantly reduce the likelihood that you are a carrier but does not guarantee that you are not a carrier. The following describes the possible results outcomes:
Inheritance: Most of the conditions on the panel are inherited in an autosomal recessive manner, meaning that both parents have to carry a mutation in the same disease gene in order to be at risk of having an affected child. Disease severity can be variable, even within family members with the same mutations. For some conditions on the panel, such as Gaucher’s disease, it is possible to be diagnosed with an adult-onset form of the condition. You can speak with your ordering physician about opting out of testing for a disease with mild or variable severity and/or adult-onset implications. Due to varying modes of inheritance, there are a few diseases on the panel (e.g. Fragile X) that can be transmitted when only one parent is a carrier.
Carrier (Positive): A positive result indicates that a gene mutation has been identified and that you are a carrier of this disorder. You may be identified as a carrier for more than one disorder. Carriers usually do not experience symptoms of the disease.
No mutations detected (Negative): A negative result indicates that no gene mutation was identified. This reduces but does not eliminate the possibility of being a carrier.
Indeterminate: An "indeterminate" result indicates that we cannot confidently report a positive or negative result using stringent quality-control guidelines.
Homozygote or compound heterozygote: This result indicates the presence of two disease-causing mutations in the same gene, which would typically indicate that you are affected now or may be affected in the future. However, some of the disorders in this panel may be mild or may vary in severity, so you may not experience clinically significant symptoms. In rare cases, a person may have two disease-causing mutations on the same chromosome, which may be revealed by further testing of either that person or their family.
Counsyl testing is highly reliable with >99% accuracy for targeted mutations and regions. As with all medical screening tests, there is a chance of a false positive or false negative result. A "false positive" refers to identifying a gene mutation that is not present. A "false negative" is the failure to find a mutation that is present in the sample.
Result interpretation 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 we used to interpret your results. Only variants in the genes requested by the ordering physician will be reported. Incidental/secondary findings will not be reported. Counsyl does not routinely re-analyze test results or issue new test reports, and has no obligation to do so.
Your carrier screening results may help you and your partner make more informed decisions regarding your family, particularly if screening is performed prior to conceiving a pregnancy. Your results may also benefit other family members. If you test positive, your biological relatives are more likely to test positive for the same mutation(s), thereby discovering previously unknown risks.
Genetic testing may reveal sensitive information about your own health or that of your relatives. If you and your partner are receiving simultaneous testing, each of your test results may be revealed to one another. Test results may reveal incidental, unsought information, such as discovering that a man is not the father of a child (non-paternity).
This test is designed to detect known DNA mutations associated with genetic disease. It cannot detect every mutation associated with each disease, nor does it look for all known genetic diseases. Because of this, the Counsyl test is risk-reducing, not risk-eliminating. Conditions included on expanded carrier screening panels vary in severity. Negative results do not guarantee that you or your offspring will be healthy. If you wish to further reduce your reproductive risks, your partner's carrier risk or the risk to potential pregnancies, additional testing may be available. These additional tests may not be covered by your health insurance policy and are not available for all disorders. Mutation scanning or sequence analysis for some disorders may not be available. Some biological factors, such as a history of bone marrow transplantation or recent blood transfusions, may limit the accuracy of results. Pregnancy risk assessment also depends on accurate knowledge of paternity. Diagnostic errors may occur due to sample mix-up or contamination. Counsyl offers the option to design custom panels. Counsyl will only interpret and report on the gene(s) requested by the ordering physician and will not report incidental/secondary findings. As such, Counsyl cannot be held liable for any missed mutation/disease detection due to omission of a disease from a clinic's or ordering provider’s custom panel.
Samples, clinical information and test results may be stored in a repository and used for validation, educational, and/or research purposes. In addition, de-identified information may be submitted in a HIPAA-compliant manner to research databases. Samples from residents of New York state will not be included in research studies and will not be retained for more than 60 days after collection.
Any such research that results in medical advances, including new products, tests or discoveries, may have potential commercial value and may be developed and owned by Counsyl or the researchers that analyze the data. If any individuals or corporations benefit financially from studying your genetic material, no compensation will be provided to you or your heirs.
Counsyl has no obligation to retain your sample indefinitely and may destroy it once it no longer has a legal duty to retain it. By consenting to this agreement, you provide authorization for Counsyl and its partners to use your sample and submitted information for such purposes as mentioned above.
If you are a patient outside the United States, you represent that by providing the samples, you are not violating any export ban or other legal restriction in your country of residence or habitation.
Genetic information is protected under the federal Genetic Information Nondiscrimination Act, which generally prohibits health insurers and employers from discriminating against you based on your genetic information. However, you should be aware that there are certain limitations to the protections afforded by this law. By agreeing to this informed consent, you provide authorization for your results to be disclosed to your ordering physician or other covered entities for purposes of treatment, payment or health care operations and to any other party to whom you have authorized Counsyl to release your results. You acknowledge that you have read and understand Counsyl’s Notice of Privacy Practices. You agree Counsyl is not liable for the unauthorized release of your results or medical information, unless such unauthorized release was the result of gross negligence or willful misconduct on the part of Counsyl. You acknowledge that certain email, SMS, telephone or video communications may not be encrypted and/or secure, and unless you request that Counsyl not contact you by these means, there are risks with such unsecured communications.
You give permission to Counsyl, its contractors and assignees to perform genetic testing on the sample you provided and to disclose the results of the testing to your ordering physician and any other person you have designated. You are not an insurance company or an employer attempting to obtain information about an insured person or an employee.
Any legal action or proceeding between Counsyl and you related to this agreement or Counsyl’s products or services will be governed exclusively by the laws of the State of California. It is understood that any dispute, claim, or controversy arising in connection with this agreement or the use of Counsyl’s products or services, including, but not limited to, claims as to whether any services rendered by Counsyl or persons employed or engaged by Counsyl were unnecessary or unauthorized or were improperly, negligently, or incompetently rendered, shall be finally and exclusively resolved by binding arbitration under the American Arbitration Association’s Commercial Arbitration Rules and Mediation Procedures and Consumer-Related Disputes Supplementary Procedures, and not by a lawsuit or resort to court process, except as California law provides for judicial review of arbitration proceedings. Both parties to this agreement are giving up their constitutional right to have such dispute decided in a court of law before a jury, and instead are accepting the use of arbitration. The parties agree that the arbitrator shall have exclusive authority to resolve any dispute relating to the interpretation, applicability, enforceability or formation of this agreement to arbitrate. Any such controversy or claim shall be arbitrated on an individual basis. The arbitration shall be held in San Mateo County, California.
You understand and agree that this agreement to arbitrate binds you and anyone else who may have a claim arising out of or related to all products and services provided to you by Counsyl or persons employed or engaged by Counsyl. You may cancel this agreement to arbitrate by giving written notice to Counsyl within 30 days of the date of your acceptance. Should you choose to withdraw from the arbitration provision, all other provisions of this agreement shall remain in full force and effect.
By agreeing to this consent, I acknowledge the following:
By agreeing to this consent, I acknowledge the following:
Counsyl testing can screen for mutations associated with more than one hundred single-gene disorders. By agreeing to this Informed Consent, you are confirming that you understand the risks and limitations associated with carrier screening. Furthermore, you are affirming that you recognize the seriousness of conditions for which you are being tested, and that disease descriptions, prognoses, and treatment options have been made available to you by your physician or through our website at counsyl.com. Finally, if you have the legal authorization to provide this informed consent on behalf of another person, you are representing that the sample provided belongs to that person.