Your questions answered

Genomics is the study of your genetic information (your genes, or DNA). Genes are the instructions that tell your body how to develop and work properly.

Understanding the changes in your genes enables health professionals to find any genetic changes and diagnose health conditions. It can also help predict your chance (and your family’s chance) of developing a disease.

Most differences in your DNA have no impact on your health or wellbeing. However, some changes can lead to a genetic condition or increase your chances of getting certain conditions such as cancer, heart, kidney or neurological conditions.

Having access to genomic testing and receiving a diagnosis means you have time to think, along with your healthcare professional, about the next best steps.

For some people, genetic testing may tell us the cause of your condition and if your family are also at risk. This can help them to get screening and treatment which may either prevent them developing the condition, or help detect disease at earlier and more treatable stages.

Genomic information can also be used to identify how you might respond to certain medications. This information can help health professionals to choose the most effective treatment for you, or reduce the side effects that you may experience such as during chemotherapy.

You will need to be referred for a genomic test by a health professional. This could be a nurse, midwife, GP, consultant or a genetic counsellor.

The National Genomic Test Directory sets out what genomic tests are available. It also defines which patients are eligible and who can order them.

The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who are eligible to access a test. The National Genomic Test Directory is for rare and inherited disorders and cancer.  For more information visit www.england.nhs.uk/publication/national-genomic-test-directories

The South East Genomic Medicine Service provides genetic tests for anyone living in South London, Surrey, Sussex & Kent. Some specialist tests are done in specific laboratories but we will direct your test to the right location.

The National Genomic Test Directory has the latest list of what tests are available.

Each test has a nationally agreed turnaround time. This is the time it takes for the laboratory to return your result to your health professional.

Depending on which test you need, it could take days, weeks or sometimes months. When you discuss your test with your health professional they should talk to you about how long the results will take.

Your healthcare professional will receive a full and complete test report from our laboratory. They will then arrange to give you the feedback and explain what it means for you, and your family, as soon as possible.

Depending on the type of test, it would include the key genomic information and what it means, for example, if a diagnosis has been confirmed or ruled out.

There will also be technical details about the test that was done which is important reference information for healthcare professionals and laboratory staff.

A confirmed diagnosis could help you and your family to understand why you have a particular condition (such as rare disease or type of cancer). It can also offer information about how a condition might develop in the future and what treatment options are available.

For diseases that can be inherited, testing can be offered to family members, which may help them know their risk of developing the same condition and take steps to screen for or reduce their risk for the disease.

If someone has cancer, then it may be the tumour cells which are sent for genomic testing. These results may help determine the most effective treatment.

There is no guarantee that genomic testing will be able to give a diagnosis. A negative test result means that the tests did not confirm that anything genetic caused your health problems, based on the current knowledge available and the type of test that was used.

It does not mean that we can totally rule out genetic links to the condition and it may be that we will be able to provide further insight in the future as genetic research continues to uncover more learning.

Talk to your health professional. They can contact us if they have questions about your test results.

Your results can be seen by the NHS healthcare professionals who are directly involved in your care (e.g., the healthcare professional who ordered your test and your GP).

The NHS laboratory staff who provided your test can also see your results.

Your results can be looked at by other NHS professionals to help in testing other patients, developing new tests, and quality control. However, they can only see the details of any genetic variant that is of interest, and only a small amount of personal information that allowed the testing to take place would be used. For example, laboratories may need to use personal information to link different family members together to make sure they are giving the right test, but audits for quality control purposes would use de-identified results.

De-identified data can be shared among healthcare professionals and laboratory scientists nationally or internationally to compare the findings from patients with similar symptoms or genetic variants, which can help to determine which genetic variants may or may not be linked to a particular condition. When this is done, patient identifiers (name, date of birth, address) are removed.

Genomics England has a helpful website with information to help you understand more about genomic medicine.

Genetic tests are generally offered under the NHS based on specific criteria. If you are concerned about a possible genetic condition in you or your family, speak to your GP or specialist about your concerns. They can help to decide if a referral is needed. Private testing may also be an option. See more about private testing below.

Some genetic tests can be offered by a specialist, sometimes called “mainstream” testing. Others can only be organised by Clinical Genetics. Referrals to Clinical Genetics are made by your GP or specialist.

Genetic testing may be available through private providers but it is important to know that the quality of information and knowledge may vary widely in the private sector and there are important conversations to have before pursuing testing for yourself or your child. It is particularly important to talk about the long term ethical and medical implications of testing children, which can vary depending on the genetic condition. Look for private services provided by genetics-trained professionals, such as consultant geneticists or genetic counsellors. Also check that the laboratory carrying out the testing is properly accredited. Direct-to-consumer testing that does not involved a trained genetics provider may not be as accurate.

We are always learning more in the world of genetics. Sometimes there is new testing available but not always. If it has been several years, or if there is new personal or family history, ask your GP to contact your local genetics service to see if a new referral would be appropriate.

Not every genomic finding will impact other family members. Your genetic healthcare provider should be able to explain whether or not testing is appropriate for siblings or other relatives.

Understanding genetic testing results can be complicated. It is important to look at your results with a genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, who can explain your results and what they mean to you and your family. You can speak to your GP or other provider for a referral to your local Clinical Genetics service if you have questions about your test results.

Understanding genetic testing results and what they mean to your family can be complicated. It is important to look at your results with a genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, who can explain your results and talk about future pregnancies including possible prenatal testing. You can speak to your GP or other provider for a referral to your local Clinical Genetics service if you have questions about your options. This could include genetic testing during pregnancy or tests completed on embryos as part of the IVF process.

A Variant of Uncertain Significance is a genetic change found during testing where the possible effect of that variant (change) on disease is unknown. In other words, we do not yet have enough information to know if this change is related to the genetic condition of concern or if it is a benign change found coincidentally. Unclear results are usually treated the same as a negative result unless we get more information to suggest it is related to disease. It is important to talk about any unclear results with a genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, who can explain your results and the impact on you and your family. You can speak to your GP or other provider for a referral to your local Clinical Genetics service if you have questions about your test results.

Your genetics provider will often have the most up-to-date information about research and clinical trials. Patient advocacy and support groups are another area where you may hear about research.

The terms genetics and genomics are often used interchangeably. Genetics is the study of genes, whereas genomics is the study of all DNA, including genes.

Genetic and genomic testing may help diagnose a specific condition or risk factor, but a diagnosis is not guaranteed. Many conditions are due to a combination of personal, environmental and genetic risk factors where a single genetic test may not be enough to make a diagnosis. A genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, may be able to help guide whether or not genetic testing/WGS might be helpful for you.

The provider who ordered your testing should explain the results of your test. A positive result may lead to further tests, such as a referral for additional cancer screening or to meet with specialists related to the diagnosis. If you have not already met with a genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, a referral may also be recommended to Clinical Genetics.

Genetic conditions can be passed on through families. Often, other relatives, including siblings and children, can be offered predictive testing for the specific gene variant identified in the family, but this is not always the case. Your genetics-trained healthcare provider, such as a genetic counsellor or consultant geneticist, will be able to explain who in the family should be notified about the genetic finding.

The Code on Genetic Testing and Insurance is an agreement between the government and the Association of British Insurers (ABI) on the use of genetic test results in underwriting insurance policies.

All members of the ABI are signed up to the Code, and insurance companies who are not members can also sign up.

The Code commits insurance companies to:

• treat applicants fairly and not require or pressure any applicant to undertake a predictive or diagnostic genetic test
• not ask for, or take into account the result of a predictive genetic test, except when the life insurance is over £500,000 and the applicant has had a predictive genetic test for Huntington’s Disease
• not ask for, or take into account, the result of any predictive genetic test obtained through scientific research

You can learn more about the code here.