Genesis Pregnancy Prep (Carrier Screen) Informed Consent

This consent form reviews the benefits, risks and limitations of undergoing DNA testing for the genetic disorder(s) available through Genesis, 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 counselling prior to agreeing to this form.


This test analyses 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 on our website at 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.

Test Results and Interpretation

If you have a family history of one of the conditions on the Genesis 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.

Genesis 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. Genesis does not routinely re-analyse 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 Genesis test is risk-reducing, not risk-eliminating. 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 or healthcare reiburserand 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. Diagnostic errors may occur due to sample mix-up or contamination. Genesis offers the option to design custom panels as a special service to ordering physicians. As such, Genesis cannot be held liable for any missed mutation/disease detection due to omission of a disease from a clinic's custom panel.

De-identified samples, clinical information and test results may be stored in a repository and used for validation, educational, and/or research purposes. In addition, this de-identified information may be submitted in a compliant manner to research databases.

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 Genesis or the researchers that analyse the data. If any individuals or corporations benefit financially from studying your genetic material, no compensation will be provided to you or your heirs.

Genesis 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 Genesis and its partners to use your sample and submitted information for such purposes as mentioned above.

Genesis may also contact you in the future for research opportunities. Please contact us at or +91-11-4331-0000 if you wish to opt out of such research or future contact.

International Specimens

If you are a patient outside India, 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.


By agreeing to this informed consent, you provide authorization for your results to be disclosed to your ordering physician and other covered entities. If both you and your partner are being tested simultaneously or if your results are subsequently merged, you are authorizing the release of your results to your partner, which may include sensitive medical information. Your results may become part of your partner's medical record, which is available to your partner's physician and other covered entities.

Legal Agreement

You give permission to Genesis, 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. You are not an insurance company or an employer attempting to obtain information about an insured person or an employee. You take full responsibility for all possible consequences if you share your test results with others. You agree to hold and assign harmless Genesis, its employees, contractors and successors from any and all liability arising from your disclosure, whether intentional or inadvertent, of your medical Information and test results to any third parties for diagnostic or any other purposes. You may not permit anyone else under your reasonable authority to copy, modify, create a derivative work of, reverse engineer, decompile or otherwise attempt to extract the source code or other basis of Genesis’ technology.

Any legal action or proceeding between Genesis and you related to this agreement will be governed exclusively by the laws of New Delhi, India. Any dispute, claim, or controversy in connection with or arising under the use of our Service or this agreement, its construction, existence, interpretation, validity, or any breach hereof which cannot be amicably settled between the parties, shall be finally and exclusively resolved by binding arbitration under the Rules of Arbitration of India then prevailing. The use of arbitration on an individual basis to resolve disputes is required; the right to class arbitrations and class actions is waived under the terms of this Agreement. The arbitration proceedings shall be held in New Delhi, India.

Financial Authorization

By agreeing to this consent, I acknowledge the following:

  • I authorize Genesis to provide my designated insurance carrier or healthcare reimburserany and all of the information, including test results, necessary for processing my insurance claim.
  • I authorize that benefits under this claim be payable exclusively to Genesis. I understand that my insurance carrier or healthcare reimbursermay not approve and reimburse my medical genetic services in full or at all, due to a variety of reasons, including but not limited to, usual and customary rate limits, benefit exclusions, coverage limits, lack of authorization, or medical necessity.
Financial Authorization

By agreeing to this consent, I acknowledge the following:

  • I am the patient providing the sample, and I am either (1) at least 18 years of age or (2) I am legally recognized as an "emancipated minor" by the state in which I reside (e.g. under the age of 18 and pregnant).
  • I have read and agree to the contents of this form.
  • I understand the benefits, risks and limitations of carrier screening.
  • I fully comprehend the distinction between risk-reduction and risk-elimination.
  • I have been informed of the availability of genetic counselling services.
  • I have been given the opportunity to discuss the results of the test with my physician, once I receive them.
  • I am responsible for informing my ordering physician of changes in my family history.
  • I understand that Genesis may contact me in the future for research opportunities.
  • I understand that Genesis may use my de-identified information and test results for validation, educational, and/or research purposes, and this data may be submitted in a compliant manner to research databases.

Genesis 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 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.