100,000 Genomes: Impacting real lives

The 100,000 Genomes Project aims to sequence 100,000 genomes by 2017. A proportion of these genomes will be from patients who have an undiagnosed rare disease. This project has the potential to make a dramatic impact on the numbers of people receiving a much-needed diagnosis for themselves or their child.

At Unique — The Rare Chromosome Disorder Support Group, we have almost 12,000 member families and we come into daily contact with people who have received a genetic diagnosis of a rare chromosome or genetic disorder. The way they have received a diagnosis for themselves or their children has changed over the years — from karyotyping (looking down the microscope to see if bits of chromosomes are missing, duplicated or rearranged) through microarrays (a molecular technique that can detect tiny losses and gains in chromosome material) and now whole genome (or exome) sequencing. For all these families the aim of the test is the same — a diagnosis. An explanation of what is causing the issues their children are facing.

A diagnosis not only answers what families need to know but can also hopefully lead to better care management and therapies. It can also, of course, lead to meeting and receiving support from other families who have similarly affected children (through support groups such as ours), which can greatly reduce anxiety and isolation. Karyotyping resulted in around 5-7 children out of 100 with developmental disorders receiving a diagnosis. Microarrays increased that to between 15-20 percent and results from the ongoing Deciphering Developmental Disorders (DDD) project have shown that sequencing has increased the chances of receiving a diagnosis to around 30 percent. This can only be a good thing for rare disease families - and that the 100,000 Genomes Project is the tool for this is brilliant news.

We're reassured to see that the patient has been put at the heart of the project and that ethics have been integral from the very start. However, having said all of that, there remain (aren't there always!) some important concerns that patients have:

Access to the project

If a family would like to take part, how will they be able to sign up? Who will decide whether they meet the criteria? Transparency about who can, and how to, take part is really important.

Consent and patient expectations

It's going to be really difficult, complicated and time consuming to consent to all the possible things that might be found in whole genome sequencing. Consent for the storage and use of their data is also important. It is important the questions and concerns from the public are dealt with openly, honestly and with full transparency. Patients and public need to have a clear understanding on what data will be held, what efforts will be made to ensure that the data are anonymous and held securely. Guarantees about who will be able to access the data and for what purpose will need to be spelled out. The benefits of storing and sharing data are enormous. A strategy to maintain public trust while working out how data can be shared securely is needed.

At this point in the process, it's also important that expectations are managed — how likely is it that a firm diagnosis will be reached? How long will the test take? What happens now for people who do receive a diagnosis? How about those people who don't receive a diagnosis? Will their genomes be reanalysed in the future as technology improves?

Interpretation of results

Once the test has been done, the results will need to be interpreted. There needs to be a huge increase in the numbers and training of genetics staff including bio-informaticians in order for this to be achieved.

Feedback of results

Once the test has been performed and interpreted, who will deliver the results? The complexity of sequencing results needs to be borne in mind — time will be needed to explain the test results to families. Incidental (secondary or 'looked for') findings also need to be addressed — what will be reported back to families? Dr Simon Woods highlighted these issues in BioNews 779.

The 100,000 Genomes Project is an enormously exciting project and one that we at Unique are delighted about. But it is also a tall order. It is really important to remember that this project is not just a piece of science or technology — although it is, of course, both of those things. It is about real people with real life problems who need a diagnosis and better care and treatment for their children.