Pre-Implantation Genetic Diagnosis - Nick Meade

Pre-implantation genetic diagnosis

Nick MeadeDirector of PolicyGenetic 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 UKBasis of our policy work

Genetic Alliance UKPolicy work

Members, Patients

and family

PreventionDiagnosis

Research and

innovation

Cures and treatments

Healthcare

Living with a genetic

condition

Policy interactionsPolicy work

MARKETAUTHORISATION

PRICINGHTA

BASICRESEARCH

CLINICALRESEARCH

TRANSLATIONALRESEARCH

COMMISSIONING

Policy interactionsControversial 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

Pre-implantation genetic diagnosis (PGD)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 ovariesStep 2: Collection of eggs from the ovariesStep 3: Insemination/injection of sperm• In Vitro Fertilisation (IVF) • Intracytoplasmic Sperm Injection (ICSI) Step 4: FertilisationThe 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 TestTwo 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)

Pre-implantation genetic diagnosis (PGD)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.

Pre-implantation genetic diagnosis (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

Pre-implantation genetic diagnosis (PGD)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.

Pre-implantation genetic diagnosis (PGD)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

Pre-implantation genetic diagnosis (PGD)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/


http://guide.hfea.gov.uk/pgd/

Our roleTo 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.

Pre-implantation genetic diagnosis (PGD)Access to PGD - Practical

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

Pre-implantation genetic diagnosis (PGD)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?


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


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

•Mitochondrial donation?


Thank you!

Nick MeadeDirector of Policy

020 7704 [email protected]

Registered charity numbers: 1114195 and SC039299Registered 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

Pre-implantation genetic diagnosis (PGD)PGD Project

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


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.


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.


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 UKHistory

• Coordination of research• Prevention and diagnosis• Commissioning and

planning• Patient Care, Information

and Support• Delivering Coordinated

Care

February 2011

Rare Disease UKVision 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 UKActual UK Strategy for Rare Diseases

Rare Disease UKUK 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 UKValue of a diagnosis

Rare Disease UKValue 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

Pre-Implantation Genetic Diagnosis - Nick Meade

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