Introduction.


This Informed Consent reviews the benefits, risks and limitations of undergoing genetic testing as selected on your order form or in your account settings (“Service(s)”, or “Circle DNA Test(s)”, as described in further detail below) provided through Circle (“Circle”), Prenetics Limited, and our affiliated companies, collectively referred to as “Prenetics”, “we”, “us”, or “our”. It also explains how your information and sample will be used in connection with the Service. Throughout this Informed Consent, “you”, “your”, “me”, “my”, and “I” refer to the person whose information and sample is being provided for this Test. If you are a parent or guardian requesting a Test for a minor, “you” may also refer to “your child”, as contextually appropriate. By proceeding with the registration, you confirm and acknowledge that you have read, understood, and agree to this Informed Consent. You understand that the Service is voluntary and that you are not required to have the Service. Prior to proceeding with the Service and thereby agreeing to this Informed Consent, you (and your guardian or parent, as appropriate) may wish to speak with a healthcare provider about the Service.

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Our Services (including, among others, Circle DNA Test(s), products, mobile app, software, services, consultation and website is designed to assess variants in genes associated with hereditary tendency and/or risk in 500+ categories by using whole exome sequencing (WES) technology through the detection of single nucleotide variations (SNVs), small insertions and deletions (InDels) located in the exonic region, nearby flanking regions and a limited selection of intronic regions. Genomic DNA is extracted from buccal cell, fragmented and prepared into Next-Generation Sequencing (NGS) libraries compatible with the Illumina platform. Standard laboratory procedures are carried out where probes are specifically designed to enhance the coverage of the targeted region. This would ensure detection accuracy while reducing the DNA amount required for Circle DNA Test. PCR-free pre-capture step is applied for each individual sample to reduce amplification-induced bias and intersample contamination during hybrid-capture. The target-enriched DNA fragments are analysed by utilising 2x150 paired-end sequencing method with an Illumina NGS sequencer with minimum average coverage of 90x to ensure data quality. Standard bioinformatics analysis is used to analyse sequencing data with reference to genome GRCh37 (hg19) for sequence alignment. VeritaTrekker® detection system is used for rigorous quality control of the sequencing data and sample information verification. Samples were tested for SNVs, InDels, CNV variations, as well as VNTR, mt, ROH, and ancestry analysis.

Variants detected by Cancer Risk and Family Planning categories in Circle DNA Test are classified by following the standards and guidelines for sequence variants interpretation of the American College of Medical Genetics and Genomics (ACMG). Variant annotation is performed using Variant Effect Predictor (VEP). Variants are classified into five categories, including the pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, and benign. Circle DNA Test results are evaluated by qualified professionals where appropriate. Only pathogenic and likely pathogenic variants detected are reported.

Risk estimation for other categories of Circle DNA Test are calculated based on test results and information provided by you (including but not limited to gender, ethnicity, etc.).

We developed Circle DNA Test. Circle DNA Test is performed at molecular diagnostic laboratories adhering to international and local standards.


What we collect and how it is used.


If you request a Service, you will be asked to provide your Personal Health Information (PHI). In order for the Service to perform as intended, you must provide accurate and correct information. If another person is submitting your PHI or related information on your behalf, by agreeing to this Informed Consent, you represent and warrant that such person is authorized to provide such information, and that all such information is accurate and correct. If you are providing personal information about your relatives, you also represent and warrant that you have obtained permission from such relatives to disclose such information to us.

You will also be asked to provide a DNA sample in accordance with our collection procedures. Your sample and PHI will be transferred to our laboratory. DNA will be extracted from the submitted sample and analyzed. Genetic data includes information about genes and regions relevant to the ordered Circle DNA Test. All genetic data may be used for regulatory compliance, and de-identified for internal quality control, validation studies, and research and development purposes. Reporting on genes and regions beyond those relevant to the ordered Circle DNA Test will not occur unless you consent to future products or services, or unless you opt into third party research and our research database as described below.

Upon successful completion of Circle DNA Test, you hereby request that a report be made available to you for review. You should consult with your healthcare provider about your results.


Benefits of the Services


Your disease and cancer categories test results may show you have an increased risk of developing certain types of hereditary disorders. Knowing this may help you and your healthcare provider make more informed healthcare decisions to prevent or detect hereditary disorders at an earlier and potentially more treatable stage. Because relatives share some genetic features, your results may also be informative to your biological relatives.

Your Family Planning test results may show you are a carrier of genetic conditions that could affect your family by analyzing the risk profile of 157 potential conditions based on your genes. You may be carriers of genetic conditions without knowing about it. If both of you and your partner are carriers for a certain condition, there is a 25% chance that your offspring could develop a condition.

Your diet and fitness categories test results may give you further understanding of your own macro- and micronutrient needs, your response to power or endurance exercise and recovery speed and sports injury risk. Such insight may allow you to use your Genetic Information to explore personalised solutions to reach your fitness and nutritional goals. Genetics is only one part of the picture, and so the value comes from understanding your genetic profile so that you can make sustainable changes that support your own goals, lifestyle and environment.

Your drug response categories test results may give you insights to help you select the medication(s) and dose(s) that are best suited to your condition and genetic makeup. The results will identify the right medication, the proper dosage as well as medications that may be harmful for you across more than 100 FDA-approved medications. With this information, you can help inform your physician and/or pharmacist about the optimal medication and dosage based on your genes and prevent potential adverse reactions to drugs.


Risks of the Services


The Services includes a genetic test (“Circle DNA Test”) that may reveal to you sensitive information about your health, your personal traits, or potential risk for developing certain tested diseases or conditions. Depending on your country of residence, there may be significant differences in the laws and regulations governing the use and disclosure of genetic information, or there may not yet be any laws or regulations governing the use or disclosure of genetic information.


Limitations of the Services


Depending on the Service/ Circle DNA Test you have selected, such Service or Circle DNA Test is intended to detect variants within a specified reportable range of selected genes known to be associated with an increased risk for certain types of inherited disorders, personal traits, and/or associated with nutrient needs and exercise responses. However, Circle DNA Test may not detect every variant associated with disease risk, and/or detect every variant associated with exercise responses, nutrient needs or sensitivities.

Analysis of results is based on currently available information in the medical literature and scientific databases, as well as laboratory informatics and algorithms that may be subject to change. New information may replace or add to the information that was used to analyze your results. Based on this new information and/or modifications to our laboratory informatics and algorithms, you understand and agree that we may, at its sole discretion, amend or modify your Circle DNA Test report. This may result in a change in your risk assessment; a reclassification of a variant or a reported diplotype; or a change or update to a previously reported allele. You hereby irrevocably waive any and all claims against us for any amendment or modification of Circle DNA Test report and corresponding services in accordance with our standard operating procedures.

This report reflects the analysis of an extracted DNA sample. In very rare cases (circulating hematolymphoid neoplasm, allogeneic bone marrow transplant, recent blood transfusion), the results of Circle DNA Test will be interfered by the neoplastic or the donor DNAs and that the analysed DNA may not represent the patient’s constitutional genome.

Circle DNA Test utilizes whole exome sequencing (WES) technology. The test analyses the following types of variants: single nucleotide variations (SNVs) and small insertion/deletions (In/Dels; up to 50bp) in exonic region, nearby 5bp flanking regions, and a limited selection of intronic regions. It is not intended to analyse the following types of variations: poly-structures, tandem repeats, GC-rich regions, and homologous regions (pseudogenes). This test may detect a varying percentages of known and unknown variations. This assay achieves 99% sensitivity and specificity for single nucleotide variants and small In/Dels (<50bp). Sensitivity to detect insertions and deletions larger than 50bp but smaller than a full exon may be marginally reduced. This test will not detect variants in promoter region and other non-coding regions. Due to the limitations of technology, this test does not guarantee 100% coverage of target captured region of exome, CNV variations, and all genetic variants in the tested genes. Also, interpretation of variants in exonic regions would be limited by the timeliness of literature and databases, the complexity of disease and the limitations of medical and science development. The test results could not rule out the possibility of other disease development due to the genetic variants detected.

The breakpoints of large HBA1/HBA2 deletions / duplications is not determined and similar size deletional variants are not distinguished. In addition, the phase of identified genotypes will not be provided. Individuals carrying both duplication and deletion within the alpha-globin gene cluster may appear to have alpha-globin gene copies with a normal number. This may rarely occur and other similar compensatory changes could exist in both HBA1 and HBA2 genes. This may not be detected by the current test. Acquired or rare syndromic forms of alpha thalassemia associated with ATR-X and ATR-16 syndrome will not be detected. Rare sequence variations can lead to detection errors during the testing process.

Circle DNA Test is not designed to detect chromosomal aneuploidy or complex gene rearrangements, including translocation, large insertions, and inversions. It also does not reliably detect mosaicism. Information regarding genetic variations with no or unknown significant association with conditions may become evident (called Incidental Findings). Circle’s policy is to not report or comment on any Incidental Findings that may be noted in the course of analysing the test data.

Circle DNA Test does not constitute a definitive test for the selected condition(s) in an individual. Besides genetic factors, environmental and other factors including age, gender, lifestyle, dietary factors, accumulation of somatic mutations in the genome, infection of the oncovirus, and / or a smoking history, etc., may also contribute to the development of different diseases or health conditions. Circle DNA Test is not a diagnostic test and should be used in context with other clinical findings by the healthcare provider to help with a diagnosis and treatment plan.

Circle DNA Test only reports the presence of inherited genetic variations of the selected genes, which were known to have association with development of certain diseases, health conditions or other traits. Other known variants and genes not listed are not reported and Circle DNA Test may not detect all known variants that results in abnormal biological activity. It is possible that untested site of variation may confer altered biological activity in an individual, leading to the rare possibility of a non-functional, decreased or increased functional allele being erroneously called as “wild-type”. Circle DNA Test only detects the DNA sequence in the protein-coding regions of the selected genes, DNA sequence other than the protein-coding regions or the selected intronic regions are not investigated by this test. Circle DNA Test results do not eliminate the possibility that the genetic variations may have risk of developing other diseases, including other cancers and carrier diseases.

Risk estimation for particular categories will only be provided with satisfactory data quality. All risk estimation is approximate, sometimes cannot be specifically calculated, and is based on previously analyzed cohorts. Risk estimation of particular categories are gender specific and they might only be applicable/available for certain gender. Risk estimation of particular categories are also population-specific, the estimated risks could be over- or under-estimated if you are not East Asian, Caucasian or South Asian. An elevated risk of particular categories is not a diagnosis and does not guarantee that a person will develop the characteristics of interests (i.e. disease or traits etc). Risk calculation is only based on the ethnicity and gender provided by you. Incorrect/inaccurate information will greatly affect the accuracy of the risk calculation.

Please note that this test does not provide diagnosis, or treatment. The report and comments are for informational purposes only and should not be interpreted as specific professional medical advice. This report is based on tested genes and variants. Untested genes, variants, non-genetic factors and accumulation of somatic mutations also influence your disease, health status and other characteristics. Environmental and lifestyle factors also often play a large role in the risk of developing diseases or health problems. Please speak with your healthcare provider for further advice and before making any changes to your diet or lifestyle or before making decisions about medical conditions, or before starting and stopping any treatment prescribed for you. This report is based solely on the sample and information provided to Circle and does not take all factors related to your health into account. Therefore, Circle and Prenetics’ employees shall have no liability to any person or entity with regards to claims, loss, or damage caused, or alleged to be caused, directly or indirectly, by the use of information contained herein.


Privacy and data security.


Your privacy is important to us. Details about our policies governing customer privacy and health information, including customer rights regarding such information, can be found at www.circledna.com/privacy, or will be made available to you upon request by emailing [email protected] We comply with the applicable requirements of the Personal Data (Privacy) Ordinance in Hong Kong SAR and other applicable regulations specific to Hong Kong SAR. We implement certain physical, managerial, and technical safeguards that are designed to protect the integrity and security of your protected information. We cannot, however, guarantee the security of any information you transmit to us or store on our websites, and you do so at your own risk. You agree that we are not liable for the unauthorized release of your information, unless such release was the result of gross negligence or willful misconduct on our part. In the event of a data breach, we intend to comply with all applicable reporting requirements. If you are domiciled outside of the Hong Kong SAR, you should consult with your physician and/or appropriate adviser because genetic testing may be subject to specific regulatory constraints, or be prohibited, in certain countries. By agreeing to this Informed Consent you agree that the laws and regulations of the Hong Kong SAR regarding collection, use, processing, and storage of patient information shall govern our performance of the Service and handling of your sample and information, even if they may differ from those of your country of residence. You further agree that by providing your sample, you are not violating any export ban or other legal restriction in your country.


Use of your information


Upon completion of Circle DNA Test, you are requesting that your results be made available to you as specified in your account or order form. By agreeing to this Informed Consent, you also agree that your genetic information, PHI, and results can be shared with any healthcare provider that you designate. You also agree that we may communicate with you about your collection kit, order, results, account details, and other Test logistics and procedures.

We store your genetic sequencing and related data as required by applicable laws and regulations, and we may use this data to conduct subsequent testing or analysis in the event that (a) you consent to any new product or service offering; or (b) our review of medical literature and/or changes in technology indicate that such analysis is useful or necessary to confirm results provided.

We will retain the DNA sample only for the maximum duration permitted under applicable law or regulation (“Retention Period”), after which point it will be destroyed. Until such time that your sample is destroyed, we may de-identify your sample and use or store it for regulatory compliance purposes; internal quality control; laboratory validation studies; or, with your consent, research and development.

If your employer / insurer has provided or paid for (in whole or in part) the Service, you acknowledge and agree that your de-identified results and PHI may be anonymized and/or aggregated and returned to your employer / insurer or its designee (e.g., plan administrator or pharmacy benefits manager) as a data analytics resource.

If your ordering provider is part of a clinic or health system, Circle may provide such clinic or health system with your results and information, other sequencing data, PHI, and related analyses, for your clinic or health system’s use for treatment, payment, healthcare operations, data analytics, research or other purposes for which your clinic or health system has agreed to comply with applicable laws.

Data and Sample Use for Public Variant Databases, Regulatory Compliance, Internal Quality Control, Laboratory Validation Studies, Research and Development, and Publications:

By agreeing to this consent, you acknowledge and agree that we may de-identify the sequenced and genotyped genetic information and aggregate this genetic information with de-identified genetic information from other clients. De-identification means that personal identifiers associated with your genetic information will be removed. The de-identified genetic variants may be submitted by us to public variant databases like ClinVar to advance scientific and/or medical research.

You also agree that your genetic information, PHI, personal data, and results may be stored and used by us for regulatory compliance purposes.

With your consent, your genetic information, PHI, personal data, and results may also be de-identified, stored and used for internal quality control; validation studies; research and development; and in publications authored by us, either on our own or in collaboration with academic or commercial third parties (which publications may include, for example, blinded pedigree diagrams or de-identified family history).


Additional use of your Information.


You can opt out of the use of your de-identified sample (if you have chosen to store it), genetic information, PHI, personal data, and results in our research with third party collaborators, and inclusion of such information in our research database us by emailing us at [email protected]

Such third parties may include government, academic, or commercial third parties. We may engage in research with such third parties to develop new tests and inventions, or to validate and improve existing technologies or processes. You acknowledge and understand that we may receive financial compensation to conduct such research, which may include providing your de-identified data to such third parties.

Our research database supports research in genetics. We may de-identify your demographic, health history, and genetic information in order to aggregate it with other participants’ data and make it accessible, searchable, and downloadable from the database by researchers and the general public, for an indefinite period of time. Genetic information in the database may include variants beyond those relevant to the product or service you consented to, but they will be de-identified. Participation in this database involves the possible risk that your information might become known to individuals outside of us, or that you may be identifiable from information in the database. We will attempt to protect your identity and preserve the confidentiality of your information, and will use commercially reasonable efforts to restrict any searches that identify you as a unique or rare carrier of any variants.

You can opt out of such third party research and our research database by contacting us at [email protected] However, if you have enrolled in a research and later decided to opt out, we cannot retract your de-identified sample (if you have chosen to store it), genetic information, PHI, personal data, and/or results from research already performed, or from previous releases of our research database that have already been published.

If any new tests, technologies, processes, or inventions are made as a result of the research activities described above (whether made by us or by a third party), you agree that you will not receive any compensation, nor will you have any right, title, and/or interest in or to such new or improved tests, technologies, processes, or inventions.


Consent.


By proceeding with registration, I confirm that I have read or have had read to me, all of the information in this Informed Consent document, and I understand what it says. I have had the opportunity to ask any questions I may have about the Services and related issues, and all of my questions have been answered to my satisfaction. I freely and voluntarily consent to undergo this Test, 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 have the legal authority to consent for such 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 Circle DNA Test is not intended to diagnose whether I have or will get a certain disorder, nor does it provide medical treatment. It is intended to tell me about certain hereditary risk of mine as indicated.

The reported results and information do not constitute medical advice by Prenetics. I should not make any medical decisions or medication changes based on these results without speaking to my healthcare provider first. My healthcare provider remains ultimately responsible for all diagnosis and treatment decisions.

My doctor and I can speak with Prenetics’ genetic counselors and/or health coaches at no additional charge.

My sample will be analyzed for the genes and regions identified in the Service(s) selected. Prenetics may also analyze additional genes and regions, up to and including the entire genome, and any other DNA present in the submitted sample. My genetic information, PHI, personal data and results may be stored and used by Prenetics for regulatory compliance purposes. My de-identified sample , genetic information, PHI, personal data, and results may also be stored and used for internal quality control; validation studies; research and development; and in Prenetics’ authored publications. Additional analysis and reporting of genes and regions beyond those relevant to the ordered Test will not occur, unless I consent to future products or services, or unless I opt into third party research and Circle’s research database.

My sample and all my related personal information will be transferred to Prenetics for analysis, use, processing, and storage, and will be subject to the laws, rules, and regulations of the Hong Kong SAR.

All samples will be destroyed after the end of the applicable Retention Period.

I agree to the Circle Terms of Service and Privacy Statement, which are available at circledna.com, or upon request.

I confirm that all information provided is true and accurate. I agree that I have the authority to provide this consent. I understand that if I wish to withdraw consent, I may do so by contacting Circle.


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