>>Alistair Kent: I’m Alastair Kent. I’m the Director of Genetic Alliance UK, which
is an alliance of almost 200 patient support organisations, for families with rare and
genetic diseases. The 100,000 Genomes Project, and importantly its translation into clinical
service practice in NHS England, is a hugely important venture, because it will give us
for the first time in our history the opportunity to understand a whole range of rare, devastating
conditions. But up to now we haven’t had the tools to investigate, we haven’t been
able to give much information to patients and families, we haven’t been able to support
the research that will lead to the understanding, to the development of therapies, to the possibilities
of intervening in ways that will improve the quality and the quantity of life, for the
hundreds and thousands of families that are affected by these rare diseases.
>>Alistair Kent: Getting results gives information, it gives the opportunity to understand. If
you have a child or a family member who is clearly got a serious illness, but no one
can tell you why it happened, what it means, what the future holds, will it happen again
if you have another child, what does it mean for your relatives. If you’re in that situation
you’re in the dark, you’re pushed along by circumstances that you have no opportunity
of trying to take control of. Getting a result at least means that you can begin to understand.
You can begin to ask questions, you can find people who are in the same situation as you
are and learn from them, peer-to-peer support. You can create the opportunity to do research,
and ultimately, possibly even, to develop therapies or interventions that can change
the course of the disease.
>>Cecily Berryman: My husband and two sons have been diagnosed with a rare genetic condition,
and it’s important to try to get some results from this project, so that the third son can
be genetically tested to see if he is susceptible or not and for the future potential children
of the whole family, and the wider family.
>>Cecily Berryman: I think the project will gather momentum and I think it is the future
of medicine both for Rare Diseases and for cancers. It just holds the key to everything
I think, genetic testing.
Anthony Locke - I thought it was very important
as a scientific project. I didn’t realise when I was looking at it that it necessarily
applied to me, but when I read though it I thought, ‘I’ve got a rare condition and
that’s just what a ought to try and get involved in’. So I wrote to the researcher
and said, ‘Does this apply to me?’ And I’ve then been through the process of having
blood taken and waiting for a result.
>>Anthony Locke: The results might mean that clinicians can identify a more precise treatment
for the condition, rather than chemotherapy in large quantities which may or may not necessarily
solve the problem. It’s a temporary relief, whereas something which is specific might
have more long term effects.
>>Anthony Locke: My family I think would be delighted if there was something which specifically
helped me, because they know that I have increasing difficulties in breathing and walking and
more limited in what I can do. And they realise that it’s a condition for which there is
no cure, so if there is something which is more helpful in terms of relieving the symptoms,
if not curing, but ideally curing, then they would be I’m sure as delighted as I will
be.
Charles Steward - I joined this project because of my daughter. My daughter is 4 years old
and when she was eight months old she was diagnosed with a very severe type of epilepsy
called West Syndrome. It caused a lot of brain damage, and we were told at the time that
only time would tell whether she could walk or talk in the future. So she was enrolled
in the project to try and understand why she was ill. And of course one of the most important
things is to know whether subsequent pregnancies will result in a child with similar difficulties.
>>Charles Steward: So, the results will be important for a number of reasons. It’s
difficult to put into words what it means for a parent when you find out you have a
child with severe disabilities. You often think you’re guilty for producing such a
child. So we would like to know if it’s just a natural event that’s happened or
whether it’s something else. And of course this will help us to plan for a future family,
but also it will allow me to inform my daughter, when she’s able to understand – if she’s
able to understand – why she’s ill, and why she’s so different to other children
and people like her.