In using Genomic Medicine UK Website: www.genomicmedcineuk.com and Genomic Medicine UK products or services, you are deemed to have read and agreed to the following terms and conditions:


The following terminology applies to these Terms and Conditions, Privacy Statement and Disclaimer Notice and any or all Agreements: “Client”, “You” and “Your” refers to you, the person accessing Genomic Medicine UK Website: www.genomicmedcineuk.com and using Genomic Medicine UK services and accepting our terms and conditions. “The Provider”, “The Provider Website”, “Ourselves”, “We” and “Us”, refers to Genomic Medicine UK. “Party”, “Parties”, or “Us”, refers to both the Client and ourselves, or either the Client or ourselves. All terms refer to the offer, acceptance and consideration of payment necessary to undertake the process of our assistance to the Client in the most appropriate manner, whether by formal meetings of a fixed duration, or any other means which do not involve face to face meeting, for the express purpose of meeting the Client’s needs in respect of provision of the Provider’s stated services/products, in accordance with and subject to, prevailing English Law. Any use of the above terminology or other words in the singular, plural, capitalisation and/or he/she or they, are taken as interchangeable and therefore as referring to same.

The laws of England and Wales govern these terms and conditions. By accessing the Provider Website and using our services, you consent to these terms and conditions and to the exclusive jurisdiction of the English courts in all disputes arising out of such access. If any of these terms are deemed invalid or unenforceable for any reason (including, but not limited to the exclusions and limitations set out above), then the invalid or unenforceable provision will be severed from these terms, and the remaining terms will continue to apply. Failure of the Provider to enforce any of the provisions set out in these Terms and Conditions and any Agreement, or failure to exercise any option to terminate, shall not be construed as waiver of such provisions and shall not affect the validity of these Terms and Conditions or of any Agreement or any part thereof, or the right thereafter to enforce each and every provision. These Terms and Conditions shall not be amended, modified, varied or supplemented except in writing and signed by duly authorised representatives of the Provider.

The information on the Provider Website is provided on an “as is” basis. To the fullest extent permitted by law, the Provider:

excludes all representations and warranties relating to the Provider Website and its contents or which is or may be provided by any affiliates or any other third party, including in relation to any inaccuracies or omissions in the Provider Website and/or the Provider Website’s literature; and

excludes all liability for damages arising out of or in connection with your use of the Provider Website or its products and services. This includes, without limitation, direct loss, loss of business or profits (whether or not the loss of such profits was foreseeable, arose in the normal course of things or you have advised the Provider Website of the possibility of such potential loss), damage caused to your computer, computer software, systems and programs and the data thereon or any other direct or indirect, consequential and incidental damages.

The above exclusions and limitations apply only to the extent permitted by law. None of your statutory rights as a consumer are affected.

You can request a full refund of the fees you paid of any order any time before receiving your DNA sample at our sorting facility in London as long as you have not used the DNA sample collection kit and you are willing to return them to our sorting facility safely undamaged and unopened.

We are unable to issue any partial or full refund after receiving your DNA sample at our sorting facility.

Unless otherwise stated, the services featured on the Provider Website are available worldwide.

All presentations on the Provider Website are made in English with possible translation from English to other languages where possible.

You are solely responsible for evaluating the fitness for a particular purpose of any downloads, programmes and text available through the Provider Website.

Redistribution or republication of any part of the Provider Website or its content is prohibited, including such by framing or other similar or any other means, without the express written consent of the Provider.

The Provider Website does not warrant that the service from the Provider Website will be uninterrupted, timely or error free, although it is provided to the best ability.

By using the Provider services, you thereby indemnify the Provider, its employees, agents and affiliates against any loss or damage, in whatever manner, howsoever caused.

The Provider Website is owned and operated by Science and Technology Company (www.scienceandtechnology.biz) in conjunction with others pursuant to contractual arrangements, and the information and services (and any intellectual property and other rights relating thereto) are and will remain the property of Science and Technology Company and its licensors and suppliers.

The information and services offered on the Provider Website are protected by international copyright, trademark and other laws, and you acknowledge that these rights are valid and enforceable.

Except as set forth in these terms and conditions, you may not copy, reproduce, modify, adapt, translate, republish, upload, post, transmit, distribute, sub-license, sell, reverse engineer, decompile or disassemble any part of the Provider Website or any service or information without our prior written permission from the copyright owner.

Copyright and other relevant intellectual property rights exist on all text relating to the Provider’s services and the full content of the Provider Website.

The Provider Website’s logo and brand name are internationally registered trademarks.

In providing you with our products and services, we may disclose personal information to third parties, including disclosure to other persons or organisations engaged by us or acting on our behalf in relation to the provision of our services or the operation of our business.

When engaging a third party, we require they handle your personal information in accordance with all relevant privacy laws, and solely for the purposes of their engagement.

If you would like to opt out, you may do so when registering at your health clinic.

The user grants right to the Provider Website to use all survey responses, testimonials, submitted use information and other materials (collectively “User Content”) communicated, submitted or transmitted by the user through the Provider Website or partner sites.

We are comprehensively committed to user privacy.

We respect the international law regarding the protection of personal data; therefore, you have the right to access your personal data and if necessary to rectify them or even ask to delete them.

As a general member of the public, you can register to receive our electronic newsletter and unsubscribe when you want.

You can also participate in our discussion forum.

Follow the instructions posted on the Provider Website.

If you want to modify or check your personal data (e.g. e-mail address) please do not hesitate to contact us. You can unsubscribe from our newsletter in every issue you receive from us.

We do not use cookies on the Provider Website. We store your personal and medical information on the Provider Website server digitally.

Your personal data are digitally stored on an internet server provided by a third party group of companies licenced to provide these services either in the United Kingdom or in a different country which may be outside the European Union.

Our internet server providers take physical and network security seriously.

Their data centres are housed in nondescript facilities. Physical access is strictly controlled both at the perimeter and at building ingress points by professional security staff, video surveillance, intrusion detection systems, and other electronic means.

Access to their data centres floors requires two-factor authentication a minimum of two times.

Our internet server provider maintains multiple certifications for its data centres, including ISO 27001 compliance, PCI Certification, and SOC reports.

Neither party shall be liable to the other for any failure to perform any obligation under any Agreement which is due to an event beyond the control of such party including but not limited to any Act of God, terrorism, war, political insurgence, insurrection, riot, civil unrest, act of civilian or military authority, uprising, earthquake, flood or any other natural or man-made eventuality outside of our control, which causes the termination of an agreement or contract entered into, nor which could have been reasonably foreseen.

Any Party affected by such event shall forthwith inform the other Party of the same and shall use all reasonable endeavours to comply with the terms and conditions of any Agreement contained herein.

The Provider Website reserves the right to change these conditions from time to time as it sees fit and your continued use of the Provider Website will signify your acceptance of any adjustment to these terms.

If there are any changes to our privacy policy, we will announce that these changes have been made on our home page and other key pages on the Provider Website.

If there are any changes in how we use our customers’ Personally Identifiable Information, notification by e-mail or postal mail will be made to those affected by this change.

Any changes to our privacy policy will be posted on the Provider Website 30 days prior to these changes taking place.

You are therefore advised to re-read this statement on a regular basis.

We are committed to protecting your privacy.

Authorised employees of the provider on a need to know basis only may use any information collected from individual customers.

We regularly review our systems and data to ensure the best possible service to our customers.

Parliament has created specific offences for unauthorised actions against computer systems and data.

We will investigate any such actions with a view to prosecuting and/or taking civil proceedings to recover damages against those responsible.

We use the information we collect from you to make your experience as easy and enjoyable as possible.

We need it to process your order and in the delivery of our medical testing service.

When you contact us, we need to know your name, gender, date of birth, address, telephone number, mobile phone number and email address.

Collecting these data allows us to book your appointment and to notify you of your order status.

We ask for your telephone number and mobile number so that we can contact you if we need to talk to you about your appointment. We do not store credit card details.

We follow strict security procedures in the storage and disclosure of information, which you have given us, to prevent unauthorised access, as required by the General Data Protection Regulations.

We owe you a duty of confidentiality in respect of information relating to you, which we obtain during the course of our retainer.

All such information will be regarded as and kept confidential at all times unless you instruct us to disclose information, or except in the circumstances set out below.

Our duty of confidentiality to you is subject to any disclosures we are required to make in good faith to the supervisory authorities in relation to any statutory or regulatory obligations.

Occasionally, our files may need to be examined by our insurers, external auditors (for quality purposes) or external advisers (who assist the provider in maintaining quality and risk).

These external firms or organisations are required to maintain confidentiality in relation to your files.

We work in partnership with our patients and favour a healthcare relationship based on open communication. We do not instruct our clients.

Instead, we discuss and share ideas and conclusions with them in an open-minded methodology. We will always review medical decisions with our patients.

We will always listen to and respect your views about your health. We discuss with our patients their test results, and what they mean in simple terms, and we will share with them a copy of their discharge letter to their family doctor or treating specialist.

We will always respect our patients’ decisions.

Depending on your personal preferences, you may contact us by telephone, secure email, our online portal, post, or fax at any time.

The Information contained on the Provider Website is presented for the purpose of general education and is not intended to constitute medical advice, instruction for medical diagnosis, or instruction for medical treatment.

The Information contained on the Provider Website is not a substitute for professional medical advice, diagnosis or treatment.

Always seek the advice of your Family Doctor (GP), treating specialist, or any other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

Never disregard professional medical advice, or delay in seeking it, because of something you have read on the Provider Website.

In no event, we will be liable to the user or anyone else for any decision made or action taken by the user or anyone else in reliance upon the information provided on or through the Provider Website and its products and services.

At Genomic Medicine UK we aim to provide all of our patients with the highest possible standard of medical care.

We favour an open and honest relationship with our patients in which their views and wishes are taken into account.

Where a patient needs to raise a complaint regarding service received at Genomic Medicine UK, they should contact [email protected].

The complaint will be treated as confidential, and we will follow up with the patient following an investigation within up to two weeks.


Blood, body fluid or tissue specimen will be collected from you. This specimen will be treated to isolate DNA*, RNA* or gene products* for genetic testing or chemical analysis.

The test will cover all disorders requested by your healthcare provider requisition form.

The purpose of genetic testing is to look for changes in genes* or gene products that cause a disease.

Such testing may include DNA, RNA or their products.

The test may help determine whether you are affected with, or at risk to someday be affected with, a specific genetic disorder.

Mutations* are errors in these instructions that could cause a protein not to be produced or not work correctly.

In these ways, mutations may cause a disease, or make someone more likely to develop a disease.

Your physician has decided that you may have a mutation* or change in your genetic code* or you have changes in gene products that have led to a genetic disease.

These changes may be due to a loss (deletion) gain (duplication), or substitution of genetic material.

The changes may include one or more parts of a gene, an entire gene or multiple genes.

These changes may also be found in your family members who may also have the same changes.

The testing described above is being ordered by your physician to see if you have change(s) in genes or gene products, as limited by the test(s) requested.

One method to find changes in DNA or RNA is called sequencing.

New methods called whole exome* (WES), and whole genome* sequencing (WGS) provide a way to analyse all or some of your gene sequences in one blood draw.

These methods will allow the testing laboratory to determine a vital piece of your genetic code.

Your physician will evaluate this information in relation to your medical condition or the medical condition of your family member(s).

Genetic testing, in general, and new methods such as WES/WGS, in particular, does not identify all types of genetic changes such as losses, duplications, or substitutions of genetic material.

Genetic testing may identify changes that place you at risk to develop a disease in the future or may reveal changes that have unknown significance.

The next-generation sequencing-based test for high-risk susceptibility genes assay uses next-generation sequencing (NGS) to sequence the coding sequences and intron/exon boundaries for the genes of interest.

The assay has a high degree of analytical sensitivity and specificity. Validation using industry standard methods yielded an accuracy of >99.99%.

Your results may show you have mutations in certain regions of your DNA that increase your risk for certain types of hereditary cancer.

Knowing that you have mutations in one or more of the genes analysed may help you and your healthcare provider make more informed healthcare decisions to prevent or detect cancer conditions at an earlier and potentially more treatable stage.

The identification of gene mutations in a family enables other blood relatives to determine whether or not they share the same hereditary cancer risks.

If testing identifies that you have genetic mutations, you should discuss with your healthcare provider how hereditary cancer is inherited and learn about the chance your children and blood relatives may have inherited the same mutations in the genes tested.

The test panel was designed to report SNV and Indels in coding regions. However, some structural variations may not be detected.

The Test is intended to identify inherited genetic mutations on selected genes known to be associated with an increased risk for certain types of cancer.

However, no currently available test can detect every mutation associated with an increased risk for cancer, and no test can analyse all genetic causes for cancer, as not all causes are known.

Consequently, tests that do not detect a pathogenic or likely pathogenic mutation do not eliminate an individual’s inherited cancer risk and do not guarantee present or future health.

In addition, the causes of cancer can be influenced by both inherited and acquired genetic mutations, age, environment, lifestyle choices, as well as family history.

There may be possible sources of error including, but not limited to, trace contamination, rare technical errors in the laboratory, rare DNA variants that compromise data analysis, inconsistent scientific classification systems, and inaccurate reporting of family relationships or clinical diagnosis information.

In rare cases, such as circulating hematolymphoid neoplasm, bone marrow transplant, or recent blood transfusion, the results of genetic DNA analysis may be complicated by somatic and donor mutations.

A positive result means that a mutation was identified in a specific gene that increases your lifetime risk of developing certain cancers.

A positive result means that you have inherited the mutation from one or both of your parents.

This result does not mean that you have cancer or that you will definitely develop cancer in your lifetime.

A negative result means that no mutations associated with an increased risk of developing certain cancers were identified in the genes analysed. This result does not eliminate your risk of developing cancer.

Cancer risk is affected by several other factors such as family history, age, environment, and lifestyle.

Because of the complexity of genetic testing and the important implications of the test results, results will be reported only through a physician, genetic counsellor, or other identified healthcare provider.

The results are confidential to the extent allowed by law. They will only be released to other parties with your written consent or as otherwise authorised by law.

By accepting these terms and conditions, you understand and agree that your results must be considered in the context of broader medical management by a healthcare provider and that you should not make medical decisions without consulting a healthcare provider.

Most genetic tests are blood tests. Blood tests involve the collection of a small amount of blood using routine collection procedures that carry minimal risk.

You may experience some discomfort at the site of needle entry, and there is a risk of a “black and blue” mark. There is a remote risk of fainting or local infection.

Genetic testing can reveal many things about you, including the mutations that may cause a disease in you or members of your family.

Some of the information may be important to your present or future health, some of it may have nothing to do with your health, and for much of it we will not know how it might or might not affect your or your family’s health.

There is also the potential that genetic analysis will reveal unwanted information, for example about ancestry, parentage, other non-medical physical or personality traits, etc. The data may also reveal that you may be at risk for certain genetic diseases or if you are a carrier of disease-associated mutations.

Also, predictions about health and disease from sequencing are not 100 per cent accurate.

You may learn that a variant of uncertain clinical significance was identified in your DNA by a genetic test.

This means that a genetic change (variant) was detected, but it is unknown whether the variant is the cause of medical problems in you.

The variant could be a benign change that does not cause medical problems, or it could be a disease-causing abnormality.

Parental testing may be recommended to find out if a parent also carries the genetic variant or to determine the variant’s clinical significance.

The test results may indicate that you have a genetic disease or are at increased risk to be affected at a later age, or at-risk to have future affected children with this condition.

It is crucial for you to understand that there is a possibility that the test results may not be able to determine whether you have a genetic disease or will develop one in the future.

If the results of the molecular genetics tests are positive, that means that an individual may be a carrier of a particular disease, be predisposed to developing a specific disease or actually have the specific disease or condition that was ordered by your physician.

You may want to consider further independent testing, consult with your physician or pursue genetic counselling even if the results are negative.

It is essential to understand the limitations of testing and to discuss these limitations with your physician or genetic counsellor before testing.

For example, the interpretation of test results could be based upon probabilities, and may not provide a 100 per cent definitive answer to whether or not you have a specific genetic disease or are at risk for developing the disease.

Your physician or another authorised person, such as a genetic counsellor, should provide you with the following:

1. A discussion of the purpose and description of the test and general outlines of each specific disease or condition tested for.

2. Pre-test counselling regarding the expected outcomes of testing, the likelihood and type of incidental results that could be generated and what results will or will not be disclosed. These test results can include gene variants not known to be specifically associated with a disease or gene variants known to be associated with a disease but not believed to be related to the condition that led to the testing (“secondary findings”). Secondary findings will not be reported unless specifically ordered by your physician after consultation with a medical geneticist and a genetic counsellor.

3. Information regarding the reliability of positive or negative test results, and the level of certainty that a positive test result for that disease or condition serves as a predictor of such disease.

4. Post-test counselling to provide information about appropriate specialist interventions associated with clinically relevant outcomes.

Results will only be released to the ordering physician or designee and/or others as entitled by law.

You can withdraw your consent to the analysis/examination with effect for the future at any time in full or in part without stating reasons.

You have the right not to be informed about test results (right not to know), to stop the testing processes that have been started at any time up to the stage of being given your test results, and to request the destruction of all test/examination results not already known to you.


The molecule that encodes genetic information. DNA is a double-stranded molecule held together by weak bonds between base pairs of nucleotides. The four nucleotides in DNA contain the bases: adenine (A), guanine (G), cytosine (C) and thymine (T). In nature, base pairs form only between A and T and between G and C; thus the base sequence of every single strand can be deduced from that of its partner.

The self-replicating genetic structures of cells containing the cellular DNA that bears in its nucleotide sequence the linear array of genes.

All the genetic material in the parts of the chromosomes of a human that code for proteins.

The fundamental physical and functional unit of heredity. A gene is an ordered sequence of nucleotides located in a particular position on a specific chromosome that encodes a specific functional product (i.e., a protein or RNA molecule).

The sequence of nucleotides, coded in triplets (codons) along the mRNA that determines the sequence of amino acids in protein synthesis. The DNA sequence of a gene can be used to predict the mRNA sequence, and the genetic code can, in turn, be used to predict the amino acid sequence.

The biochemical material, either RNA or protein, resulting from expression of a gene. The amount of gene product is used to measure how active a gene is; abnormal amounts can be correlated with disease-causing alleles.

All the genetic material in the chromosomes of a human.

Any heritable change in DNA sequence.

A large molecule composed of one or more chains of amino acids in a specific order; the order is determined by the base sequence of nucleotides in the gene coding for the protein. Proteins are required for the structure, function and regulation of the body’s cells, tissues and organs, and each protein has unique functions. Examples are hormones, enzymes and antibodies.

A chemical found in the nucleus and cytoplasm of cells; it plays a vital role in protein synthesis and other chemical activities of the cell. The structure of RNA is similar to that of DNA. There are several classes of RNA molecules, including messenger RNA, transfer RNA, ribosomal RNA and other small RNAs, each serving a different purpose.

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