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Welcome to the [FAD] Support Group Newsletter Issue November 2012
Inside this issueP2: Welcome P4: Summary of previous meeting P9: Genetic Alliance UK P12: Carers Trust and Young Carers
Myrtle Ellis FundThe FAD Support Group is generously supported by the Myrtle Ellis Fund, as part of
the National Brain Appeal (Charity number 290173). For more information on the
work of the Fund or to make your own contribution to the running costs of the FAD
Support Group, please contact the National Brain Appeal on 020 3448 4724 .
[FAD]SUPPORT GROUP
Next FAD support group meeting: Saturday 9th February 2013, 11am - 3pm Wilkins Old Refectory, University College London, Gower Street, London WC1E 6BT
An opportunity to meet others affected by Familial Alzheimer’s Disease and to discuss diagnosis, support and research
Timetable [provisional]
Coffee will be available from 10:30am
11am – 11.45am: Alison Lashwood, Consultant Genetic Counsellor and Clinical Lead in PGD, Guy’s Hospital, London: ‘Reproductive Options: what pre-implantation diagnosis can offer’
11.45am - 12noon: Break
12noon – 12.45pm: Dr Susie Henley, Clinical & Research Psychologist, Dementia Research Centre, London: ‘The emotional impact of a dementia diagnosis’
12.45pm – 1.30pm: Lunch - Lunch will be provided in the Wilkins Old Refectory
1.30pm – 1.50pm: Juliet Gayton, Professional Genealogist: ‘Searching for the gene…20 years ago!’
1.50pm - 2.20pm Sophia Cheng and Oliver Marler: FAD Support Group members: Launch of FAD website
2.20pm – 3.pm Professor Nick Fox - Question and answer session
3.pm: Close of Meeting
Please confirm your attendance to Jill Walton on 07592 540 555 or email [email protected]
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e Welcome to the third familial Alzheimer’s disease (FAD) support group newsletter. The timing of its circulation has been arranged to coincide with the announcement of the 2013 meeting, which we sincerely hope you will be able to join us at, and we look forward to meeting some new people as well as catching up with familiar faces!
There are several interesting developments to
update you on, one of these being the creation
of a dedicated FAD website for the support
group. We are very grateful to Sophia Cheng and
Oliver Marler for the time and effort they have
put into making this initiative a reality, and we
are delighted that they have agreed to join us
on February 9th 2013 to officially introduce and
launch the site.
We do now have dedicated FAD support group fliers,
and are pleased to say that these are beginning
to find their way into relevant clinicians’ hands and
appropriate clinics. Please do ask for a supply if you
know of places where they can be distributed.
We are also grateful to Claire Harrison for agreeing
to format and set this newsletter, which we hope
you agree, gives it a professional look and further
improves our general profile as a group.
We are currently liaising with Alzheimer’s
Research UK in respect of a new leaflet they are
creating to send to GP surgeries which deals
with ‘dementia myths and FAQs’. One of these
questions is likely to cover inheritance and ‘does
it only affect old people?, and we hope to be able
to contribute to this publication in some way.
You may be aware that an Alzheimer’s Society
initiative, Dementia Awareness Week, took place
between 20 and 26 May 2012. The aim of the
week was to increase public awareness and
understanding of dementia…and to get people
thinking and talking about it . The FAD support
group was represented at the main UCL Hospital
in Euston Road, during the week!
On a research note, University College London
(UCL) was very pleased to announce this year
that it has received funding from the Wolfson Trust
to establish the Leonard Wolfson Experimental
Neurology Centre at the National Hospital for
Neurology, Queen Square. The Centre, which is
scheduled to open in 2013, will provide the UK’s
Katy Judd and Jill Walton : Dementia Awareness Week 2012
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efirst dedicated environment for clinical trials and
cutting-edge studies involving individuals at risk of
and affected by neurodegenerative diseases like
Alzheimer’s, Parkinson’s and Huntington’s disease.
It is important news for FAD as a key aspect of the
Wolfson initiative is to establish the infrastructure
and support needed to conduct trials at early and
even presymptomatic stages of disease.
The Dominantly Inherited Alzheimer Network
(DIAN), an international research partnership
dedicated to better understanding and treating
FAD, is working hard to establish trials of
treatments aiming to slow down or prevent the
symptoms of FAD. The DIAN Trials Unit has just
announced that it has chosen two of the three
drugs that will be used in these initial trials, from
among 15 nominated by different pharmaceutical
companies as their most promising new
candidate therapies in development. The two
therapies that have been selected are both
antibodies that target amyloid beta, the abnormal
protein that is deposited in the brains of people
with Alzheimer’s disease. There is still much work
to be done before these trials can be launched
but UCL is part of DIAN and all family members
participating in research at UCL will be contacted
once there is the opportunity to find out more
about the trials. Anyone interested in finding
out about current opportunities to participate in
research should feel free to contact Dr Yuying
Liang ([email protected]) or Jane Douglas
([email protected] ). Family members
who do not want to get involved in research
at the moment but who would like to know
about trials of new treatments once they are
established can register their interest at www.dianexpandedregistry.org
Another important development for FAD was
also announced earlier this year. The Human
Fertility and Embryology Authority (HFEA) granted
a licence allowing Presenilin 1 and Presenilin 2
mutation testing for couples who wish to pursue
preimplantation genetic diagnosis (PGD). A
licence for APP mutation testing (the other gene
that can cause FAD) had been granted previously.
PGD is available for couples when there is a
specific genetic mutation that is known to run
in the family, although they do not necessarily
need to find out whether they carry the mutation
themselves. It is a lengthy and complex process
involving assisted reproductive technology, which
in other circumstances is offered to couples with
fertility problems. Essentially, it aims to obtain
and fertilise a number of eggs. The embryos
that develop are tested at day 3 for the genetic
mutation. Only those that are unaffected are
transferred to the womb, with the hope that they
will implant and form a pregnancy. The chances
of success depend on various factors, including
a woman’s age, and there are a number of
criteria that must be fulfilled if a couple are to be
considered for PGD. As this is such a complicated
area, we are delighted that Alison Lashwood,
Consultant Genetic Counsellor and Clinical Lead
in PGD at Guys Hospital (www.pgd.org.uk) will
be coming to give a talk and take questions
at the support group meeting on 9th February.
We appreciate that this subject raises a lot of
sensitive issues and there will therefore be a
coffee break immediately after so that people
who do not wish to attend this part of the meeting
can join the day from 11.45am.
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Rachel Taylor, Nurse Consultant, Dept. of Neurogenetics, The National Hospital for Neurology and Neurosurgery : ‘A Family Affair – genetics, testing and related issues’ Rachel began by explaining that whilst much of
her current work is with people with Huntingdon’s
Disease, her knowledge of genetics and genetic
testing had several overlapping areas of relevance
to familial Alzheimer’s disease. Her talk would aim to
provide us with an overview of some basic genetics,
information about predictive testing and insurance
and employment issues arising from such testing.
Rachel explained that DNA was the basic molecule of
life, containing our genetic material, which in the form
of chromosomes, is carried in every cell of our body:
She went on to clarify that there are trillions of cells in
the human body, 23 pairs of chromosomes,2 metres
of DNA,3 billion DNA subunits (the ‘genetic alphabet’
A, C, T, G) and explained that around 30,000 genes
code (provide the recipe) for proteins that perform
most life functions – antibodies, enzymes, skin etc.
When it comes to human genetic conditions, there
were 3 main type of condition that she listed:
• Multifactorial conditions – variants of genes interact
with the environment
• Chromosomal disorders
• Single gene disorders – a mutation ‘spelling
mistake’ in a single gene. These are the type of
disorders associated with familial Alzheimer’s
disease.
Inheritance of genetic disorders can be X linked [ ie
linked to a sex chromosome], autosomal recessive,
or autosomal dominant. It is the autosomal dominant
pattern that we see as the pattern of inheritance in
familial Alzheimer’s disease:
Dominant inheritance
When it comes to being tested to see whether or
not a person is carrying a gene known to cause a
disease, we start to embrace terms such as ‘genetic
counselling’ and ‘predictive testing’. This counselling
is not counselling in the psychological sense of the
word, but a process of accurate information giving,
explaining facts as clearly as possible, explaining
options and thereby enabling an individual to make
SUMMARY OF 24 MARCH 2012 MEETING
We were pleased to welcome 40 people to the meeting, and felt that the agenda, venue and timings of the day’s events worked well. The 2013 meeting will be planned to follow a similar programme.
After informal conversation and introductions over coffee, we welcomed Rachel Taylor as the first speaker of the day.
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their own decision about whether to proceed with
genetic testing.
Predictive testing is possible to do when there is a
known genetic mutation in a family. It follows an
internationally agreed protocol, and should only be
done through a genetics or neurogenetics service.
Usually people have to be over 18 years of age to
undergo predictive testing, and the process is spread
over a minimum of 3-6 months, involving genetic
counselling sessions and a ‘cooling off’ period before
the test is actually done.
There is a 40% drop out during this cooling off
period. Reasons for this are various, but concerns
about coping with the result and living with the
result, waiting for a more appropriate time, and
considering the impact that the result may have
upon other family members, are amongst some
of the common factors which dictate peoples’
decision making.
Reasons why people may proceed on to have a
genetic test include: wanting to end uncertainty, to
enable them to make life choices/plan for the future,
to make family planning choices and to inform other
family members of their risk e.g. children.
Insurance issuesMoving on to consider some of the insurance issues
which can arise for people who carry a known gene
for a disease, Rachel explained that in the UK there
is an agreement between the ABI (Association of
British Insurers) and the Dept of Health, known as
the Concordat and Moratorium on Genetics. This
agreement will currently stand until 2017 and states
that ‘the results of a predictive genetic test will not
affect a consumer’s ability to take out any type of
insurance other than life insurance over £500,000.
Above this amount, insurers will not use adverse
predictive genetic test results unless the test has
been specifically approved by the Government. Only
around 3% of all policies sold are above these limits.
The only test that is approved is for Huntington’s
Disease’. This statement was published as an ABI
news release on 5/4/11.
This agreement or moratorium also covers Critical
Illness Insurance up to £300,000 and Income
Protection Insurance up to £30,000.
However, insurers can still ask details of family
history, some insurers won’t insure people who are
at risk and people who are at risk can sometimes
expect to pay increased premiums. Rachel
therefore advised people to seek the assistance
of an Independent Financial Adviser who is
registered with either the Association of British
Insurers or British Insurance Brokers Association,
for further clarity around issues which may be of
concern to an individual.
EmploymentWhen it comes to employment, Rachel explained
that most employers can’t insist that an employee/
potential employee discloses results of predictive
test or undergoes predictive testing, and that in most
cases there is no obligation to reveal at risk status
or gene positive status. There is no actual legislation
around this area, but the Disability Discrimination Act,
Human Rights Act, Data Protection Act and Equality
Bill all have relevant contributions to make.
There may be occasions in which exceptions are
granted as reasonable and these may include,
for example, situations where an employee/
potential employee may potentially pose a serious
safety risk to themselves or others should they
start to develop symptoms. These may include, for
example, the Armed Forces, and to some degree,
the Police Service.
Rachel ended her presentation by listing several
useful websites:
Genetic Alliance UK
www.geneticalliance.org.uk
The Association of British Insurers
www.abi.org.uk
British Insurance Brokers Association
www.biba.org.uk
Financial Services Authority (for IFA)
www.fsa.gov.uk
British Society for Human Genetics
www.bshg.org.uk
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Dr Gary Price, Consultant Psychiatrist, The National Hospital for Neurology and Neurosurgery: ‘Behavioural Issues in FAD’ Dr Price began his presentation by explaining that
his professional work is embedded in the field of
neuropsychiatry, which is essentially where neurology
meets psychiatry. His presentation focussed on
the behavioural issues which commonly present in
Alzheimer’s disease, and some possible treatments
for these. He explained that these behavioural
symptoms may occur earlier in the disease pathway
in people with Familial Alzheimer’s disease than in
the non-genetic form of the disease.
By focussing on behavioural issues, Dr Price was
differentiating away from the more cognitive
symptoms that also are obviously apparent
in this illness. He separated out the subtle
impairments of memory, naming, language, and
visuospatial function that commonly arise, from
behavioural / neuropsychiatric disturbances that
can also occur in FAD.
He explained that there were of course, obvious
difficulties to overcome when it comes to measuring
behaviour and that whilst there are several
inventories and scales available, the Neuropsychiatric
Inventory is a widely recognised and accepted
scale by which to measure, compare and contrast
symptoms amongst people.
Using this scale, it has been observed that 96%
of people with Alzheimer’s disease display at
least one of the symptoms listed below, quite
apart from any of the cognitive symptoms that we
typically expect to see:
apathy (59.6%)
depression (58.5%)
irritability (44.6%)
anxiety (44%)
agitation (41.5%)
Depression and social withdrawal can be a problem
even before diagnosis has been established.
Apathy is importantly recognised as being different
from depression, and depression is typically more
common early on in the illness pathway.
Gary went on to list hallucinations, delusions,
disinhibition, inappropriate elation, sleep and
appetite disturbance as other symptoms which are
commonly seen.
When it comes to dealing with and managing
some of these symptoms, we now understand
that psychological and environmental factors are
very important. There is a growing consensus that
psychological / social treatments are tried first, with
an emphasis on excluding physical illness, defining
the symptom / behaviour, looking for environmental
triggers and investigating psychological interventions
wherever possible.
Dr Price referred to four models that are seen as
explaining the causes of changes in behaviour
and mood:
Direct model: the changes result from brain changes
Lowered stress threshold model : the patient is
more susceptible, and liable to over-react to
minor stressors
Behavioural model (ABC): Antecedents result
in a Behaviour which has Consequences. The
consequences may or may not reinforce the
behaviour
Unmet needs model: A variation of ABC in which
the antecedent is an unmet physical, emotional or
idiosyncratic need and the behaviour is a cry for help
to have that need fulfilled.
Essentially, he explained that a change in the brain
does not necessarily affect your behaviour, but it may
affect how you cope with other factors, which in turn
are seen to take effect.
Moving on to consider the various medications which
may be available and helpful, should psychological
and environmental factors not be sufficient, Dr
Price explained that compared with the normal
brain, there is reduced acetylcholine transmission
in Alzheimer’s disease. The degeneration of
acetylcholine containing neurones in both sub-
cortical and cortical regions may account for the
memory loss typical of Alzheimer’s. This explains
the logic behind prescribing acetylcholinesterase
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inhibitors [Donepezil,Rivastigmine,Galantamine] for
people with AD.
Memantine is a drug which is also sometimes
prescribed and works by modulating
glutamate receptors.
Donepezil, galantamine and rivastigmine are now
recommended as options for managing mild as well
as moderate Alzheimer’s disease, and Memantine
is now recommended as an option for managing
moderate Alzheimer’s disease for people who
cannot take AChE inhibitors, and as an option for
managing severe Alzheimer’s disease. NICE (National
Institute for Clinical Excellence) are responsible for
reappraising prescribing guidelines as well as having
concern for clinical and cost effectiveness.
Depression can and should be treated in people
with Alzheimer’s disease, and of course no
presentation about drug treatments for people with
Alzheimer’s disease would be complete without
reference to the recent Department of Health Report
[ November 2009 ] which stated that people with
dementia should receive antipsychotics only when
they really need them.
He concluded by saying that whenever any drug
treatment was initiated as the necessary course
of action, national drug guidelines should be
referred to, the views of others should be sought,
the risk / benefits should be carefully considered,
treatment options should be discussed with the
patient and family. A low dose should be used to
start with and adverse events/side effects should
be carefully monitored.
After a break for lunch, during which there was
much informal exchange and conversation
Dr Yuying Liang, a research fellow from the Dementia Research Centre gave an update on some of their current research studies. Yuying writes:
‘Many of you have contributed to the fibroblast
study where skin cells are turned into a type of
stem cell which can in turn be generated into
neurons (brain cells). Recently, Dr Rick Livesey’s
lab in Cambridge, UK, have demonstrated
features of Alzheimer’s disease in neurons
derived from a patient with Alzheimer’s disease
using this method. What is remarkable is that
the clinical symptoms of Alzheimer’s disease are
not usually evident in a person until later in life
yet Alzheimer’s pathology is identifiable in these
neurons generated from the fibroblasts. There
is a huge variety of different kinds of neurons in
our brain. Some are more relevant in the study of
Alzheimer’s disease as they appear to be more
vulnerable to the effects of the disease. The same
lab has also described techniques which allow
the stem cells (derived from the fibroblast) to be
turned into a particular type of neuron (cortical
neurons) which is of most interest to scientist
studying Alzheimer’s disease. Dr Selina Wray
and Professor John Hardy from the Institute
of Neurology (UCL) are collaborating with Dr
Livesey’s lab to work on the skin tissue that our
FAD research participants have donated.
All of you taking part in research have kindly given
blood samples for genetic and protein analysis.
The genetic information could help explain the
variability we see in familial Alzheimer’s disease.
For example, we know that the onset of the
disease and the speed of change can be variable
in patients with the same mutation, even within
the same family. Likewise, the same mutation
can give rise to quite different clinical pictures,
for instance, predominant behavioural problems
versus memory difficulties or language problems.
These variations may be accounted for by our
genetic makeup other than the mutations. You
may wonder why we take blood in so many
different tubes. This is because the chemicals in
the different tubes allow different kinds of proteins
to stay viable for analysis in the future. Studying
blood proteins may allow researchers to develop
reliable tests which can detect and, or monitor
Alzheimer’s disease by taking a peripheral blood
sample in future.
The Dementia Research Centre is part of a
UCL wide neuroscience community. One of
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the advantages of this is that we can develop
collaborations with cognitive neuroscientists which
are interested in brain functions. In the last year,
we started doing a computer based experiment
to look at some particular memory functions.
Such research is clearly very different from the
kind of basic, molecular research mentioned
above but they are very important in helping
us to understand the nature of the cognitive
symptoms FAD patients experience. If such tests
prove sensitive and specific to particular types of
dementia, they may also play an important part in
diagnosis in future.
Lastly, the DIAN therapeutic trials are under
preparation. Please see this link http://www.
dianexpandedregistry.org/ where you can
register your interest in the trial. DIAN has recently
announced the three investigational drugs for the
prevention trial. Please see Washington University
in St Louis’ website (https://news.wustl.edu/
news/Pages/24400.aspx) for further details.
We look forward to seeing you in the next support
group meeting. We welcome any feedback or
suggestions on issues that you would like to
discuss in future meetings.’
The afternoon concluded with
Professor Nick Fox hosting a question and answer session, during which questions were taken from the group. The session provoked a lot of interactive debate
and we were all left somewhat moved by the
energy and motivation from within the group for
things to develop.
Topics discussed included:
• The unfairness of the postcode lottery, when it
comes to being referred to appropriate specialists,
or indeed for genetic testing. It would appear from
the statistics, that whole areas of the country are
not affected by familial OR sporadic Alzheimer’s
disease, which obviously is not the case. Prof Fox
suggested that up to 50% of Alzheimer’s disease
may be currently undiagnosed
• The confines and restraints that the need
for confidentiality inevitably puts upon the
medical profession
• The significance of deep brain electrical
stimulation, which people had read about as
taking place in the USA
• The wish for a database of homes which could
appropriately cater for younger people with
cognitive needs
• The need to raise awareness about Familial
Alzheimer’s disease generally, and more
specifically the FAD support group. To this
end, we have begun a process of liaising
with Alzheimer’s Research UK, with a view to
developing a poster campaign. On the subject
of raising awareness, from time to time ARUK
are approached by the media looking to link up
with families affected by early onset Alzheimer’s
disease who may be willing to share their story
publicly. There are a lot of issues to consider if
somebody is contemplating this, particularly
whether or not to disclose the genetic nature of
the condition in the family given the implications
this would have for other family members.
However, if speaking to the media is something
you might consider doing, you may wish to tell Jill
so that she can let you know about any requests
she receives via ARUK in the future.
• Following the discussion at the meeting we have
been successful in the creation of FAD specific
flyers, which are being circulated via various
means to appropriate professionals. There
is scope to develop this circulation, and Jill is
currently seeking the advice of various clinicians
in respect of how best to approach this.
• The conversations about the need for a FAD
specific website, have led to the creation of a site
which will be launched at the next meeting!
The meeting concluded with people leaving from
3pm onwards, but with many choosing to stay on
for a further time of debate and conversation until
approximately 4.30pm
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• Supporting: To seek to raise awareness of genetic
conditions and improve the quality of services and
information available to patients and families.
• Campaigning: To actively campaign on behalf of
those with genetic conditions on issues of policy
and practice to influence governments, policy
makers, industry and care providers such as the
National Health Service.
• Uniting: To provide a united voice for all those
affected by genetic conditions, enabling us to work
together towards a common goal of making life
better for patients and families at risk
Existing as we do, as a relatively small group, we
hope that by being represented under the umbrella
of this much larger organisation, we will be able to
achieve a platform for the representation of our own
organisation, as well as contributing to the larger
scale efforts of the alliance.
By way of an example, one recent initiative of the
Genetic Alliance has been to produce the verdict of a
jury of patients on the topic of weighing the risks and
benefits of new medicines for people with serious
conditions. The summary of their findings is provided
below. Whilst this exercise took place before the FAD
support group was part of the alliance, I hope to be
able to forward any future surveys to all members
who are able to supply me with an email address [if
you received this newsletter by post, I don’t have a
current email address for you!]
Summary :Focus of the Jury No medicine is 100% safe. So, regulators need
to decide ‘do the advantages outweigh the
disadvantages of taking the medicine?’ and ‘are the
side effects acceptable?’ This analysis of the risks
and benefits associated with new medicines is very
complex – what risks and benefits are we talking
about, and how should they be weighed? Where
the condition is serious and/or rare, these decisions
can be even harder. The Jury was designed to be
a structured and in-depth study into how patients
with serious and/or rare conditions perceive risks
and benefits, and how effectively current regulatory
decision making reflects their preferences.
The discussions of the Jury were focused on the
following questions:
1. How do patients with rare and/or serious
conditions perceive the risks and benefits of
new medicines?
2. To what extent should regulators be
more permissive in their marketing
authorisation decisions?
3. How should patients be involved in the
assessment of risks and benefits, and regulatory
decision making?
The summer 2012 edition of the Genetic Alliance UK newsletter, welcomed the FAD Support Group to its membership body. We were one of six new groups to join the alliance whose aim is to improve the lives of people affected by genetic conditions by ensuring that high quality services and information are available to all who need them. The stated mission of the alliance has three main elements:
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The Citizens’ Jury is a participatory research method.
Drawing upon aspects of a legal trial by Jury, a
small group of individuals form a Jury over a few
days, to learn about and deliberate a particular
issue in depth. They weigh the evidence presented,
discuss it amongst themselves, and reach a ‘Verdict’.
They also often make other observations and
recommendations relevant to the matter in hand .
The twelve jurors were either patients with serious
and/or rare conditions, or were family members of
someone with a serious and/or rare condition. The
Jury met for a total of five days between September
and December 2011. During this time, Jurors explored
the risks and benefits of hypothetical case studies
and heard from a number of expert and advocate
witnesses about how the regulatory system currently
works, its strengths, and its potential weaknesses.
The jurors deliberated two opposing arguments:
a) Making a case for change (regulators should be
more permissive) and b) Defending the status quo
(regulators should not be more permissive). Data
was collected in a variety of ways during the process
including questionnaires, voting exercises, audio-
recordings of the sessions and reflective diaries.
The Verdict: Summary of the Jury’s Recommendations After considering the evidence and debating
the issues amongst themselves, the jurors
concluded that:
1. Regulators should include psychosocial factors in
their decision making
Jurors argued that insufficient weight is given to
psychosocial factors in the evaluation of medicines
for licensing. Applications for new medicines are
judged primarily upon biomedical evidence and
clinical outcomes. For patients, there are likely to be
psychological and social factors that are equally
as important. Jurors would like to see regulators
broadening the range of issues which they consider
when deciding whether to approve a new medicine,
with greater weight placed on the psychosocial
aspects of serious and/or rare conditions, and
on the potential for new medicines to alleviate (or
exacerbate) them. Jurors have generated a list of 25
psychosocial factors that are important to them, to
be included in the assessment of risks and benefits
of new medicines. The most significant psychosocial
factors are listed below:
Me My Family Society and Me
Anxiety (as a result of uncertainty and
uncertainty of effectiveness)
Being a patient and taking medication
(time, disruption and anxiety)
Relationship with the self and identity
Autonomy and control
Relationship with immediate family
(spouse, partner, children, parents,
siblings)
Relationship with friends
Financial implications
Financial implications
Employment status
2. Regulators should be more permissive for
those treatments for people with rare and/or
serious conditions
Patients affected by serious and/or rare conditions
often have few or no effective treatments available
to them. Because of their unique circumstances,
such patients may well be willing to take greater
risks than the system currently allows, and should
be given that choice. Key questions for regulators in
their marketing authorisation decisions are ‘do the
advantages outweigh the disadvantages of taking
the medicine?’ and ‘are the side effects acceptable?’
In the case of serious and/or rare conditions,
regulators should lower the threshold of what they
consider to be acceptably safe, giving more weight
to psychosocial benefits and involving patients in the
decision making.
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the process, from setting the research agenda, to
post-marketing authorisation decisions
Patients’ experiences and preferences should be
represented in all the processes which lead to the
development of new medicines, from the initial
determination of research priorities, right through to
the regulatory processes which grant and remove
marketing authorisation. This would ensure that
the benefits which really matter to patients, and
the levels of risk they are prepared to tolerate are
considered in the decisions. This is particularly
important for serious and/or rare conditions, where
the stakes are so high. Patient representatives (such
as patient group members) should be supported to
be joint decision makers, alongside clinical experts,
throughout the process.
4. Patients should be better supported to make
their own decisions
Patients wish to decide which medicines they take,
reflecting their individual circumstances, beliefs and
preferences. The result of Recommendations 1-3
above will be that patients with serious and/or rare
conditions will in future be faced with more choices,
as more medicines are made available to them.
Such decision-making is challenging, but possible
for most patients. But people need help from their
clinical team, and from a variety of other sources,
including relevant, credible and understandable
information about the potential risks and benefits
of the new medicines. Jurors welcomed work to
improve the way in which such risks and benefits
are communicated, and also generated a list of
questions to help guide patients when deciding on
their own treatment options. Tools such as these
should be used by clinicians and patients to aid a
shared decision making or a partnership approach
to prescribing practices.
Conclusions and Opportunities for Further ResearchIn conclusion, the Citizens’ Jury offered a valuable
insight in to how patients (and family members)
affected by serious and/or rare diseases perceive
risks and benefits of new medicines. Findings
demonstrated that jurors are willing to take great
risks for the potential cure or improvement of their
condition, and recommend that regulators involve
them in their decisions, allowing for the more
appropriate development and licensing of medicines
for patients with rare and/or serious conditions.
Lastly, jurors used their findings to produce a
‘patient checklist’, to support individuals in their own
assessment of risks and benefits.
During the process, several potential opportunities for
further research were highlighted including reviewing
patient involvement within the current research
and regulatory system, further development of the
‘toolkits’, exploring patient perceptions about the
costs of medicines and exploring the findings of the
jurors with a larger group of patients with a variety of
conditions, within the UK and across Europe.
For more information about the Genetic Alliance, visit
www.geneticalliance.org.uk
12
care
ers
trust
& y
oung
car
ers
Carers TrustCarers Trust is a new charity which was formed by
the merger of The Princess Royal Trust for Carers and
Crossroads Care in April 2012.
Carers Trust works to improve support, services and
recognition for anyone living with the challenges of
caring, unpaid, for a family member or friend who
is ill, frail, disabled or has mental health or addiction
problems. They aim to ensure that information,
advice and practical support are available to all
carers across the UK.
Together with network partners, they provide
access to desperately-needed breaks, information
and advice, education, training and employment
opportunities. They aim to give carers and young
carers avenues to speak to someone and make
their voices heard, offline via their carers’ services
and young carers’ schemes and online via
interactive websites.
Carers website:
www.carers.org
Young carers website
www.youngcarers.net
The young carers website holds online chats, usually
once per month, where a guest expert comes to the
chatroom and our users can log in and ask them
relevant questions. As an example, in recent months
they have had someone from the MS Society to
talk about MS and a hypnotherapist talking about
relaxation techniques!
They recognise that dementia is an issue that
does affect young carers – mostly with regard to
their grandparents but also in respect of young
people who are living with / caring for parents with
dementia. They have an online community of young
carers who meet for discussion or for advice from
their qualified youth workers. We were invited into the
chat room on October 1st 2012 and ‘spoke’ to some
young carers present at that time.
We hope that this newly merged charity and its’
initiatives may be of particular interest to our group.
FAD Meeting 2013 We hope to see you at the next FAD support group meeting on Saturday February 9th 2013.
Please confirm your attendance or raise any questions you have to Jill Walton on 07592 540 555
or email [email protected]:
