Access PGD Genetic Conditions

Pre-implantation genetic diagnosis
Nick Meade
Director of Policy
Genetic Alliance UK
FAD Support Group Meeting, 26th April 2014

• About Genetic Alliance UK
• What is pre-implantation genetic diagnosis (PGD)?
• What is the technique?
• Access to PGD
• Areas of discussion
• Questions
Pre-implantation genetic diagnosis (PGD)
Summary

Genetic Alliance UK is the national charity of over 160
patient organisations (including Familial Alzheimer's
Disease Support Group) supporting all those affected by
genetic conditions.
Our 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.
Genetic Alliance UK

Basis: “...representing all those affected by genetic
conditions.”
Therefore:
• Areas of policy which affect all or some of our member
groups.
• Disease specific issues are left to members unless:
 There is no member.
 It is a paradigm issue that will be influential in the
future.
 The member asks us to help out.
Genetic Alliance UK
Basis of our policy work

Genetic Alliance UK
Policy work
Members,
Patients
and
family
Prevention
Diagnosis
Research
and
innovation
Cures and
treatments
Healthcare
Living with
a genetic
condition

Policy interactions
Policy work
MARKET
AUTHORISATION
PRICINGHTA
BASIC
RESEARCH
CLINICAL
RESEARCH
TRANSLATIONAL
RESEARCH
COMMISSIONING

Policy interactions
Controversial issues
• Animal research
• Embryo research
• Cytoplasmic hybrid embryos
• Preimplantation genetic diagnosis
• Mitochondrial replacement therapy
• Gene therapy
• Stem cell therapy
• Termination of pregnancy
• Large scale use and sharing of genomic data

PGD enables couples at risk of having a child with an
inherited condition in their family to avoid passing it on to
their children.
• Single gene conditions (nuclear DNA)
• Chromosome disorders
What is pre-implantation genetic diagnosis?

How does PGD work?
Assisted reproductive techniques - in vitro fertilisation,
intracytoplasmic sperm injection – are used to fertilise some
of the mother’s eggs.
The embryos are tested, and one or more unaffected
embryos are transferred back to the mother to implant and
hopefully to result in a pregnancy.

Step 1: Stimulation of the ovaries
Step 2: Collection of eggs from the ovaries
Step 3: Insemination/injection of sperm
• In Vitro Fertilisation (IVF)
• Intracytoplasmic Sperm Injection (ICSI)
Step 4: Fertilisation
The eggs are examined 16–20 hours after
injection/insemination for signs of fertilisation.

Step 5: Embryo biopsy
This technique is highly specialised and can only be carried
out by embryologists who have a special licence. The
removal of these cells should not harm the embryo.
Step 6: Embryo Testing
Step 7: Embryo Transfer
Any remaining unaffected embryos can be frozen for later
use.
Step 8: Pregnancy Test
Two weeks after transfer.

Why PGD?
• Reproductive choice
• An additional option
• The opportunity to conceive a pregnancy that is
biologically the parents’ own and yet unaffected by a
genetic condition in the family.

To have PGD to avoid the birth of a child affected by
condition X, you need:
1. To be referred for PGD by a clinical geneticist or
genetic counsellor, and be eligible. (Clinical)
2. Funding either commissioned by the NHS or provided
privately. (Financial)
3. Condition X to be judged serious by the Human
Fertilisation and Embryology Authority (HFEA).
(Regulatory)
Access to PGD

1. Discussion with a GP.
2. Referral to a Regional Clinical Genetics Service.
3. Consultation with a clinical geneticist or genetic
counsellor to evaluate the risk of having a child with the
inherited condition.
4. All possible reproductive options will be discussed.
5. Referral to a licensed PGD provider.
6. An initial screening appointment to determine the
genetic cause of the risk and assess suitability for PGD.
Access to PGD - Clinical

PGD commissioning
• Since April 2013, we have equitable access to PGD in
the UK.
• Northern Ireland
• England – one decision making body rather than 152
• Wales
• Scotland
Access to PGD - Financial

Criteria for PGD commissioning in England
• The risk of conceiving a pregnancy affected by a serious
genetic condition should be 10% or more.
• The female partner should be under 40 years of age at
the time of treatment, with a BMI between 19 and 30.
• Both partners should be non smokers.
• There should be no living unaffected child from the
current relationship.
Access to PGD - Financial

For a licence to be granted for a clinic to use PGD to avoid
the birth of a child with a particular genetic abnormality,
the HFEA must be satisfied that a person with this genetic
abnormality:
“will have or develop a serious physical or mental
disability, a serious illness or any other serious medical
condition.”
Human Fertilisation and Embryology Act 2008
Access to PGD - Regulatory

Licensed conditions
• Early onset Alzheimer disease type 3 and 4
• ...and therefore other licences are accessible
Full list: http://guide.hfea.gov.uk/pgd/

Our role
To ensure that the licence committee has information which
describes the perspective of families affected by genetic
conditions.
• Gamma-secretase is responsible for proteolytic cleavage of
amyloid precursor protein
• Will parents be able to take their baby home? When will
symptoms start first show?
• What are treatments like? What are the risks? How many days a
year at hospital?
• What does it mean at school? Can a child play football?

Our role
• >130 submissions.
• >45 of these in collaboration with members.
• Every licence application that we have supported has
been approved.
• Do our statements have an impact?
• Our statements are an enormous wealth of information
explaining why families affected by genetic conditions
would like to access PGD to a broad range of conditions.

Statement in support of early onset Alzheimer disease
• Impact on the family, timing of onset
• Second guessing arrival of the first symptoms
• Explaining the condition to a young child
• Autosomal dominant condition in the family
Therefore Genetic Alliance UK would endorse the HFEA’s
decision to issue a licence.

1. Discuss PGD with GP  referral to clinical genetics.
2. Discuss PGD with clinical geneticist or genetic counsellor
to evaluate risk, and check criteria for access  referral
to PGD provider.
3. Screening for genetic risk if necessary, and discussion of
all reproductive options  progression to treatment.
Access to PGD - Practical

What’s a serious condition?
• Inherited cancer risk?
• Late onset conditions
• Variable conditions
• Behavioural disorders
Areas of discussion

Should access to PGD be controlled in the same way as
assisted reproductive technologies?
• “one child policy”
• Holding the NHS to ransom?
Areas of discussion

Should PGD be regulated in such a strict manner?
• No “list” for prenatal testing.
• Does ethically controversial technology benefit from tight
regulation?
Areas of discussion

Will the landscape change as new technologies arrive?
• Non-invasive pre-natal testing.
• Next generation sequencing and whole genome
sequencing.
• Mitochondrial donation?
Areas of discussion

Thank you!
Nick Meade
Director of Policy
020 7704 3141
nick@geneticalliance.org.uk
Registered charity numbers: 1114195 and SC039299
Registered company number: 05772999

What do we need to do to allow us to put these statements
in the public domain?
• Context
• Ensure quality and broad representation
• Collaborate with members
• Explanation and redirection for every statement
Medical Research Council funded our project
PGD Project

Ensure quality
• Review all of the statements.
• Incorporate best practice.
• Ensure our evidence base is broad, and covers “the
classics”.
PGD Project

Explanation and redirection for every statement
• This is not aimed at providing information to patients
researching their condition.
• The risk of Google.
• We will explain the purpose of each statement on the
front page.
• Offer an alternative route to support information.
PGD Project

Political context
• PGD was opposed in 2007, alongside “saviour siblings”,
and cytoplasmic hybrid embryos.
• Embryonic stem cell research is opposed by many
groups.
• Mitochondrial replacement therapy four months ago.
PGD Project

Rare Disease UK
• National Alliance for people with rare diseases and all who
support them
• Open to all
• 1,400 members
• 240 patient organisations
• Initiative of Genetic Alliance UK
• 80% of all rare diseases have a genetic component
• Campaigns for a UK Strategy for Rare Diseases
• Provides a united voice for the rare disease community
• Raises awareness of rare diseases

• Established by Genetic Alliance UK, in conjunction with other key
stakeholders in November 2008 following the European Commission’s
Communication on Rare Diseases: Europe’s Challenges.
• This Communication set out proposals for a comprehensive, European
Union (EU) wide, integrated strategy to support Member States on issues
including diagnosis, treatment and care for rare disease patients.
• RDUK was developed in response to the unmet healthcare needs of the
millions of people living with a rare disease and who currently struggle
to get access to integrated care and support from the NHS.
• In June 2009 RDUK successfully campaigned for the UK’s adoption of
the Council of the European Union’s Recommendation on an action in the
field of rare diseases. This recommendation calls on all EU member
states to develop plans or strategies for rare diseases by 2013 in order
to ensure universal access to high quality care.
Rare Disease UK
History

• Coordination of research
• Prevention and diagnosis
• Commissioning and planning
• Patient Care, Information and
Support
• Delivering Coordinated Care
February 2011
Rare Disease UK
Vision for the UK Rare Disease Strategy

• The role of research
• Identifying and preventing rare
diseases
• Diagnosis and early intervention
• Empowering those affected by
rare diseases
• Coordination of care
November 2013
Rare Disease UK
Actual UK Strategy for Rare Diseases

Rare Disease UK
UK Rare Disease Strategy
• Implementation phase.
• All four Governments will soon publish their commitments to
the strategy.
• UK Stakeholder Forum reconstituted, Alastair Kent is chair.
• Will hold UK Governments to account.
• We need to plan a way for patients to feed into this arena.

Rare Disease UK
Value of a diagnosis

Rare Disease UK
Value of a diagnosis
• Prognosis
• Access to better treatment and care
• Appropriate management of the condition
• Access to research
• End to the diagnostic odyssey
• Identity and connection with a community
• Credibility
• Genetic counselling

Access PGD Genetic Conditions

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