Informed Consent - Effective Date: May 1st, 2017
Please review this form and, if you agree, provide your consent for genetic testing at the bottom of the form. If you do not agree, please do not submit any samples or other materials to AWAKENS, Inc. (“AWAKENS”) or our third-party partners.
I understand that:
1. Voluntary Participation: This form describes the benefits, risks, and limitations of screening my genome. I acknowledge that my participation in genetic screening is voluntary.
2. Test Purpose: I acknowledge that AWAKENS will be performing whole genome sequencing (“WGS”) analysis and interpretation on my genetic material (“DNA”). This test will sequence or “read” all of my DNA, and variations (“misspellings”) in my genetic material will be identified. WGS analysis seeks to make correlations between DNA variants in an individual’s unique genome and the presence of or risk for a variety of non-medial traits. I acknowledge the potential use and interpretation of my WGS data as discussed below.
I understand that this is a screening test for healthy individuals. It is not a diagnostic test. It should not be used to diagnose any disease in myself or my family. If I have concerns about a disease or medical conditions in myself and/or my family, I am aware that I should discuss appropriate medical and/or genetic testing options with my healthcare provider.
3. Background Information: I understand the following background information on WGS:
a. Every individual is made up of trillions of cells. Cells can be thought of as small, microscopic packets containing our DNA. DNA is stored in the form of a 4 letter alphabet (A, C, T, and G).
b. DNA is necessary for the normal health and maintenance of our body. It is particularly important because it allows one’s genetic information, which influences health and physical characteristics, to be passed down from one generation to the next. Each parent contributes 50% of their DNA to their children.
c. Genes are segments of coding and non-coding DNA that provide instructions for the formation of proteins and other important biological compounds. Changes found in an individual’s genes or DNA can cause disease or increase one’s risk for disease. Conversely, gene changes may also be protective against certain illnesses and diseases.
d. Each individual has over 40,000 genes. Over 3,500 of our genes have well-established associations with a variety of illnesses and diseases.
e. A genome is the complete set of one’s genetic material. It is comprised of both coding and non-coding portions of DNA. Variations can occur in the coding and/or non-coding DNA. These variations may positively or negatively contribute to one’s health. WGS looks at both the coding and the non-coding regions of our DNA, as opposed to Whole Exome Sequencing (WES) which only looks at the coding regions (exons) and represents approximately 1-2% of the entire genome. Analyzing the entire genome can provide predictive non-medical trait information on an individual’s and their family’s risk for various illnesses and diseases.
4. Screening of Myself, not children: I affirm that I am at least 18 years old and am the person ordering and consenting to this screening test. I agree that AWAKENS can release to legal authorities as it deems appropriate any of the information provided if they determine the preceding sentence may not be accurate.
a. I understand that my genomic data will be analyzed and a written report will be provided to me and my ordering physician to download via my access to the AWAKENS online web portal. Additionally, my results will be available to view on AWAKENS’ GENOME LINK interactive application; access to this application will also be available via the web portal.
b. The report will provide interpretation on approximately 2000 genes as determined by AWAKENS. A complete list of current gene offerings can be found on our website at http://genomelink.io. These genes are associated with specific non-medical traits, physical characteristics/appearance, and ancestry.
Our services currently do not report on medical diseases or traits.Therefore, genomic variants expected to be predictive of disease or carrier status will not be identified in my genome or reported, including, without limitation, any such variants classified as pathogenic or likely pathogenic in private and public databases. I expressly acknowledge that there may be clinically relevant variants present in my genome that are not reported on.
c. A supplemental report including all variants of uncertain significance (VUSs) will also be provided.
d. I understand that my raw data will not be provided. However, a Variant Call File (VCF) is available upon request and may incur additional fees. This file will include all types of non-medical variants identified in my genome. I understand these non-medical variants will be limited to previously reported non-medical variants in the private and public databases utilized by AWAKENS. Therefore, the VCF may not be inclusive of every coding/non-coding region of my genome. I understand that my results and any sequencing data are provided only for my non-commercial, personal use.
6. Incomplete Knowledge: I understand that our collective knowledge of the impact of genomic variation is incomplete due to either limited or conflicting evidence in the applicable literature. All individuals will have variants with unknown clinical significance in their genomes. One or more of these variants may be reported and discussed with me.
The clinical significance of certain data is still unclear and may become more defined over time. There are gene variants which have yet to be discovered and will, therefore, not be reported to me at this time. Genetic counseling is available to me to learn more about new developments in WGS, associations of genomic information with non-medical variants and how these changes may impact the understanding of my DNA, and whether further interpretation is desirable.
7. Medical Care. I understand that the data, interpretation and overall results reported by AWAKENS does not contain medical diagnosis data, interpretation or results and is not a substitute for medical care. I will only seek advice from my genetic counselor, physician or other licensed health care provider about such data, interpretation and results. I will not interpret any data, interpretation and results provided by or through AWAKENS as recommending or discouraging any specific treatment plan, product or course of action in my medical care.
I acknowledge that the cost of any clinical confirmation and subsequent medical follow-up will be my sole responsibility.
I understand that any lifestyle, medical or other related decision should consider more than just genetic screening results and that WGS itself is a rapidly evolving field. Genetic conditions may be inherited within a family. For most other traits and conditions, genetics contributes only a part of the overall picture. Lifestyle choices and environmental exposures often contribute equally or greater. In the same way, not having a certain genetic trait does not mean that I will not develop in conformity with that trait.
8. Unperceived Risks: It is possible my screening results may reveal information about myself, or my relatives, that I would rather not know. For example, I may learn unwelcome or unwanted information about biological parentage, ancestry, etc. It may not be possible to prevent learning such information through this screening. I understand I should talk to my physician or genetic counselor about the type of information that I do and do not want to know.
9. Implications for My Family: The AWAKENS GENOME LINK screening results, like the results of other genetic screening, may have implications for my blood relatives (parents, siblings, children) and particularly if I have an identical (monozygotic)twin. I understand I should speak with my genetic counselor, physician, or other licensed healthcare professional about whether I should share my screening results with others. If I decide to do this, I understand I should consider the best way to communicate this information to them.
10. Genetic Counseling: I understand that genetic counseling is available to me and should be considered before and after this test. My results may prompt additional testing or physician consultation(s). In some cases, test results may lead to testing of other family members. I can find a genetic counselor in my area by visiting the following link: http://nsgc.org/p/cm/ld/fid=164.
11. Test Information and Limitations: This WGS test is performed on saliva or whole blood using current, best available high-throughput next generation sequencing technology.
WGS is a relatively new and rapidly evolving field, and test accuracy may change. I understand that current state-of-the-art WGS, including the technology used by AWAKENS, cannot provide sequence information for every base in the genome, or for certain kinds of variants.
Certain variations in the genome cannot be detected using AWAKENS GENOME LINK technology, and these variations include but are not limited to repeat expansions, certain inversions and deletions, translocations and large structural rearrangements. Therefore, for genetic traits known to be associated with such mutation types, a specific test providing coverage of all necessary mutation types should be considered.
AWAKENS provides its genetic screening services through its third-party partner, which is a CLIA certified laboratory, but there is always the small chance an error may occur in any laboratory performing complex screening or testing. AWAKENS and its partners cannot make any guarantees about the accuracy or completeness of any such data or analysis.
12. Sample Requirement: This test requires saliva or whole blood. In some cases, an additional sample may be requested if the volume, quality, and/or condition of the initial specimen is not adequate.
13. Potential Side Effects of Sample Collection: There are no known significant adverse effects from self-collected saliva. When blood is collected as the source of DNA, adverse effects are rare from routine phlebotomy but may include swelling, soreness, bruising, dizziness, fainting, or infection.
14. Disclosure to my Healthcare Provider: I understand that my genetic data and results will be sent by AWAKENS to my health care provider. As noted in section 16 below, disclosure may present a risk of discrimination. The interpretation of my genetic data could present or be perceived to present risks different than my motivation to be screened. Additionally, these risks may change as data interpretation will be more advanced in the future.
15. Genetic Discrimination Risks: Genetic information could be used as a basis of discrimination. To address concerns regarding possible health insurance and employment discrimination, many states as well as the federal government in the USA have enacted laws to prohibit genetic discrimination in those circumstances. The laws may not protect against genetic discrimination in other circumstances such as when applying for life insurance, disability insurance, or long-term care insurance. I will talk to my physician or genetic counselor if I have concerns about genetic discrimination prior to screening.
For non-USA users: It is my responsibility to know the genetic discrimination laws and risks in my country, and I will talk to my physician or genetic counselor if I have concerns about genetic discrimination prior to screening.
16. Electronic Security Risks: The Internet, wireless services, and any electronic storage, including those used by AWAKENS and its third party contractors, may not be 100% secure. When my information is stored or transmitted there is always a risk that the security on the device or communications may be breached and someone else may then gain access to my screening results or information or re-identify anonymized data as my data.
17. Additional Use of Sample:
AWAKENS may store my sample indefinitely except as prohibited by law.
DNA variant(s) identified in my sample may be shared in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar) or other similar HIPAA-compliant public databases intended to aid the medical community in the interpretation and diagnosis of genetic disease. In all such instances, my data will be de-identified (name and all personal identifying information removed) before this information is shared.
My de-identified sample may be used for new test development and/or laboratory quality assurance purposes by the lab or its collaborators. Additionally, information from my sample may also be used in scientific publications or presentations. I understand that if my sample is used for these purposes, I will not receive any compensation from resulting inventions.
18. Acknowledgment: I acknowledge the following:
I have been offered the opportunity to ask questions and discuss with my healthcare provider/genetic counselor the benefits and limitations of this screening test.
I understand this is a screening test and not a diagnostic test.
I have been informed about the availability and importance of genetic counseling and have been provided with information identifying an appropriate provider from whom I might obtain such counseling.
I have read this document in its entirety and realize I may retain a copy for my records.
I consent to having this screening test performed and I will discuss the results with my healthcare provider/genetic counselor if I have any questions or concerns.