GIG – Choices and Challenges of Reproductive Health - October 6^th 2008

As a trustee of the Gorlin Syndrome Group I was lucky enough to attend GIGs Choices and Challenges of Reproductive Health conference in London.  I found the day extremely interesting and informative.  It was also beneficial networking with people from other support groups, genetic counsellors and Health professionals.  There was also a great deal of positive feedback from the Family Route Map that I had taken down with me.  I really enjoyed the day and gained a lot of knowledge of developments in this area.

Please find my report of the day below.  I hope I have made it easy enough to understand.

Kind regards

Helen Costello

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Dr Lynn Chitty – NIPD (Non Invasive Prenatal Diagnosis)

NIPD is a relatively new technique which involves the testing of fetal DNA from a sample of maternal blood. This has potential to improve various forms of antenatal testing for genetic conditions.  It will come under close scrutiny over the next couple of months as the technology develops.  Evaluations will be needed to determine how effective it is before it can be offered out by the NHS.  It is only being used at the moment on a research basis in a few centres for women who are at high risk from passing on a certain specific inherited conditions.  The PHG foundation along with technical experts, NHS service providers and wider stakeholders have been assessing the prospects for NIPD in the UK.  This will result in a final report of their conclusions and recommendations including proposals for the NHS to make sure that it is able to respond promptly and effectively to scientific developments in this area.  Their report will be released early next year.

On the few number that has been tested on so far, the results are looking really good but after all there is still a long way to go.  Here are some of the statistics so far for single cell disorders:

• 1% of miscarriage
• Cannot be tested under 11 weeks
• ¾ of the results are received within 3 days
• 60% reduction of invasive testing
• Safe, earlier diagnosis

The following things need to happen before this is used in routine care:

• Techniques need to be validated in large numbers to determine accuracy.  This will not replace invasive testing for 2-3 years.
• Technological development is required to produce machines that can cope with the high volumes of samples.
• Some methods generate a huge amount of data that requires careful analysis.  This will require development.
• Laboratory standards will need to be developed.
• The limits of gestation for testing will need to be determined.
• Non-invasive techniques have the potential to replace current Down’s syndrome screening tests with one that would be diagnostic and they must be sure that women and healthcare professionals understand the changes and women fully understand the implications of these tests.

Alison Lashwood – Centre for PGD, Guys & St. Thomas’ Hospital

PGD is a process that involves testing embryos for genetic single gene or chromosome disorders.

PGH is the type of analysis used in testing the embryos for single gene disorders.

This is a 9 week cycle of fertility treatment.  For the first two weeks you are put through a temporary menopause this is to stimulate the ovaries.  After the two weeks you are then sent for an ultrasound scan, they aim to get from ten to fifteen eggs.  The eggs are then collected for fertilisation. 3 days after fertilisation biopsies are taken from the embryos.  It takes 24 hours for the results from the biopsies.  The non affected embryos are then transferred back into the patient.  After another two weeks the patient is asked to do a pregnancy test, if positive they are referred to an antenatal clinic as normal.  If negative then the cycle is started again.

PGD improves things by:

• Decrease in misdiagnosis risk
• PGD for more genetic disorders
• Increase in embryos for transfer (fewer inconclusive results and more embryos to freeze for future cycles)
• 42% pregnancy rate from frozen embryos

In summary PGH has had a positive impact on their service.  They have a new member of staff to develop new cases.  As always developments in PGD raises new issues.  They understand the importance to work with their patients, support groups, the PGD team, genetics colleagues and the HFEA.

Dr Ainsley Newson – Lecturer in Biomedical Ethics at Bristol University

Ethics is a big part of any prenatal diagnosis.

Existing ethical debates – Applying to PND and PGD:

• Moral status of the embryo
• Disability rights critique, ethics of making a choice, ‘Quality control’ in reproduction
• ‘Seriousness’ threshold to justify testing
• Choosing only non-carrier children or children who will develop a particular condition
• Should we have the best children possible

Advantages of new technology:

PGD

• Ability to detect a wider range of mutations
• Offer PGD for a greater range of conditions
• Increased substrate material improves testing

NIPD

• Safety
• Potential for earlier reassurance
• Earlier detection of abnormality
• Impact of information still significant

PGH

• Determining scope

Incompletely penetrant conditions? Non-lethal conditions?

• Increased embryo destruction
• Resource allocation
• Safety
• Psychological impact
• Non-medical applications

PGD/PGH compared with PND

PGD may be morally preferred to PND:

• Avoids terminations
• Ethically neutral choice: positive outcome (healthy pregnancy) simultaneously balances the negative outcome (embryo destruction)
• Identification with an embryo may not be as significant as an emotional connection to a foetus developing in the womb

Ethical issues in NIPD

• Normalisation/routinisation of testing
• Informed consent/choice
• Increase in termination of pregnancy – NIPD to avoid PGD?
• Sex selection via the ‘back door’
• Commercialisation and care pathways
• Non-medical applications

Four core ethical themes

1. Who should control reproductive choice?
2. Should we adopt a precautionary approach?
3. Will we slide down the slippery slope?
4. Is more choice better than less?

Controlling reproduction

• At what point (if any) is it appropriate for others to intervene in individual’s or couples’ reproductive decisions?
• What factors should influence the setting of the threshold?
• The ‘serious/minor’ distinction?
• Context and ‘lived experience’?

There will never be a consensus reached so it is just about taking it forward reputably.

Cara Scott – ARC (Antenatal Results and Choices)

ARC has been running for 20 years and supports patients through screening and testing.  They are an independent source of information that compliments the work of health professionals.  The majority of their calls are regarding whether or not to go ahead with invasive testing, weighing up the options of having a child with a disorder or having the testing and there being a chance of miscarriage.

No matter how informed people are it is still life shattering when the scan shows the results.

How can you choose an outcome when none of the outcomes are good?

Factors that normally influence the decision are:

• Pre existing plans, hopes and dreams
• Severity of abnormality
• Quality of life for the baby
• Prior attitudes, values and religious beliefs
• Previous experience of the condition
• Impact of having the baby on self and others
• The way in which the information is communicated
• Social/Family pressure

What parents want:

• Clear and honest information
• Time
• Non directive but supportive approach
• Non judgemental attitude
• Effective communication
• Continuity of care
• Privacy and confidentiality

Dr Hilary Burton – Consultant in Public Health (PHG Foundation)

Inherited disorders – A challenge for Health Services

They have undertaken three major reviews in the last 12 months.Inherited metabolic diseases

Genetics in Ophthalmology

Cardiac Genetics

Please see separate presentation for their results.

What are the new health needs:

Increased recognition of genetic conditions

Increased diagnosis through screening

New technologies for more tests

Widening use of genetic testing

What do patients want:

Awareness of possible diagnosis

Referral to appropriate centres

Knowledge of the condition from specialists

Access to other services and voluntary organisations

Kept up to date with latest developments

A service that they know is robust, up to date and expert.

What we have now

Regional clinical genetic Services

Laboratory Services

A few specialised inherited conditions services

Genetic Screening Services

A wide range of other services caring for people with genetic conditions – primary care, learning disability services etc.

About 10,000 people in each region fall short of specialist care – This needs to improve drastically.

The unmet needs are:

Multi Disciplinary teams

Integrated

Meet Standards

Accessible and equitable (referral protocols, outreach, systems for shared care, awareness raising)

Access to genetic testing

Overall capacity

What needs to happen:

Educating the public

Raise awareness

Educate non specialists including primary care

Developing the evidence base

Developing models for service provision

Ensuring sufficient laboratory services

Promoting access

Developing relevant specialists

A major work area is developing models for service:

Mainstream NHS Services will be able to take advantage of new genetic tools in diagnosing, preventing and treating disease

Currently most specialist inherited disease services relevant to a particular speciality are undertaken in joint genetics/specialty clinics

With increasing needs arising from genomics, increasing experience of testing and increasing capability, this paradigm might be no longer possible or appropriate

Mainstreaming genetics has tended to be interpreted as specialist genetics 'moving into mainstream medicine ‘We suggest a future paradigm for genetics in which mainstream medicine itself develops and expands to bring a set of new genomic technologies within its own specialist remit.

Major work area – Bridging the gap

Free Foetal DNA is a great new technology but there is still along way to go:

Economic assessment

Ethical, legal and social considerations

How would they be integrated into maternity services

What changes will be needed in labs

Professional Education

Public Education

How will NHS deal with patients

Advising Commissioners

Very little funding is available for this translation

How can the voluntary sector help?

Get involved in planning

Demand standards for specialist care

Encourage patients to seek specialist care

Recognise importance of developmental and coordinating work and consider providing support for this

Help educate the public and professionals