How long will I have to wait for my results in the new service?
The turn-around-times for genetic and genomic tests vary based on their complexity and the clinical urgency. Some urgent test results will be available within 3 days, for example prenatal tests, while others will be delivered in around 4 months.
As this is a new service, results may take longer as we begin to offer the new tests.
Can I get re-tested if the results don’t show anything? How accurate are these tests?
The tests we offer are very accurate, but as our knowledge of genetics and genomics increases sometimes the interpretation of the results may change. If your results don’t show anything, we may be able to offer other tests, or if your symptoms change testing may be appropriate at a later stage.
How accurate is Whole Genome Sequencing (WGS) and what happens if the results don’t show anything?
Although WGS is a very accurate test, our knowledge of the genome is constantly evolving. For this reason, it is important to bear in mind that if your results do not show anything, it does not necessarily mean that there is not a genetic cause for your condition. In the future, as knowledge and technology improves, we may be able to find the cause, particularly if new genetic causes related to your condition are identified. You should discuss with your clinical team if there is a change in your condition, or if there is a pregnancy planned in the family. Additionally, if you have cancer and it reoccurs, we may do a further WGS test on the new tumour.
How will having these kinds of tests or taking part in research affect my health insurance?
Most of the time taking part in research projects or having genetic tests won’t affect insurance premiums you already have. You don’t normally have to tell insurers that you are taking part in research, or about genetic test results. However, when applying for new insurance you do have to disclose any symptoms you experience or any diagnoses, screening, or treatments you receive, if this information is requested on the application form.
It is important that you answer all questions truthfully when applying for insurance. If you deliberately, recklessly or carelessly give incorrect or incomplete information when answering questions, there is a risk that the insurer will decline any future claim.
If you already have insurance cover in place, you do not have to disclose any further information to your insurer. This includes genetic tests results, any screening, treatment, or diagnosis that you receive, or indeed any change in your health after the policy came into effect. This is because all relevant facts are only obtained by insurers at the time the application is made. The insurance policy is based upon the facts known at that time. Once granted, cover remains in place on the same terms and conditions until the policy ends (provided premiums are paid). For further information please see the Genomics England website.
This useful consumer guide to the Code explains what an insurance company does and does not need to know about any genetic tests you might have had when you apply for insurance. Find out more about the Code on Genetic Testing and Insurance.
How safely my data will be stored?
Your data will be stored in both by the laboratory who carried out the tests (in case further tests are required on the same sample) and on your Health Record at the applicable Hospital. If you have had a whole genome sequence, your Genomic Patient Health Record, which will include data from your whole genome sequence, will be stored in the national NHS Genomic Medicine Service database, safely protected behind the NHS IT firewall. Your personal data (data about you) will always be protected and will be used to provide your healthcare.
Is my data going to be available for research?
Research is a vital component of healthcare and it has benefited from the health data donated by millions of NHS patients. It has been used to develop the medicines and treatments that patients receive today.
As part of the Genomic Medicine Service many patients will be given a choice about allowing approved researchers access to your de-identified genomic data and any excess samples. A patient’s ability to access a genetic test does not depend on their willingness to consent to the use of data for research purposes, but by contributing to research in this anonymous way you will be helping us develop the service and improve care for patients.
Does this mean I’ll now get personalised medicine to better treat my condition?
It is hoped this will be one of the benefits of the Genomic Medicine Service over time.
See other patient Stories.
Will the Genomic Medicine Service be England-only? Will I be able to access this service across everyone hospital in England? What about patients in Scotland, Ireland and Wales?
The Genomic Medicine Service covers England only. The devolved nations are responsible for the structure and delivery of healthcare for their populations.
What is Genomics England and what role do they have in the NHS Genomic Medicine Service?
Genomics England is company wholly owned by the Department of Health & Social Care. Genomics England was set up to deliver the 100,000 Genomes Project. As the Genomic Medicine Service begins, NHS England and Genomics England will work in partnership to allow Whole Genomic Sequencing to be included in the test directory for selected rare diseases and cancers.
If there are only seven genomic laboratory hubs does that mean that some laboratories have closed down? Will this impact on how long it takes a patient to get a test and result?
Not necessarily. Some laboratories have stopped doing genetic tests and others have merged (consolidated) which has moved larger volumes of activity to fewer specialist laboratories. Not only will this improve the quality of the tests that patients receive, it is also designed to speed up the return of results.
North West Thames Regional Genetic Laboratory fully merged with North East Thames as of October 2018 to form the North Thames GLH Rare Disease Hub Laboratory.
How many people will get a whole genome sequence in the future?
The National Genomic Test Directory sets who will be eligible for whole genome sequencing. Some examples are listed below:
· Children likely to have a rare genetic disorder or children with cancer.
· People with one of 21 rare conditions where current evidence suggests that WGS may help make a molecular diagnosis.
· People with specific types of cancer for which there is likely to be the greatest patient benefit from using whole genome sequencing.
As the cost of whole genome sequencing falls and we develop ways to speed up the analysis and the evidence for its use in other situations improves, we envisage that it will be extended to more conditions and therefore more patients.
I heard people in the 100,000 Genomes Project took part and the testing didn’t find anything
In the 100,000 Genomes project around 1 in 4 people having whole genome sequencing (WGS) because they had a rare condition received a genetic diagnosis. Overall, for rare disease, compared to existing standard tests, whole genome sequencing will increase the possibility of finding a diagnosis by 20-25%. This means that more people, but not all, will receive a diagnosis from WGS.