Coronavirus update and advice: pre-implantation genetic diagnosis service
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Referrals
As a long-standing centre of excellence for PGD, we pride ourselves on fostering relationships with our colleagues across the UK. If you have any questions ahead of referring your patients to discuss PGD, you are more than welcome to contact us. You can also find answers to frequently asked questions below.
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How do I arrange a referral?
We require that all couples have been seen by their local clinical genetics service before coming to see us. If you would like to refer a couple, please complete either the PGD referral form (Word 174Kb) for monogenic or chromosomal conditions only, or the HLA referral form (PDF 86Kb).
The completed form can be returned to gst-tr.pgd.enquiries@nhs.net or by post to:
Pre-implantation genetic diagnosis team
Clinical genetics
7th floor, Borough Wing
Guy's Hospital
Great Maze Pond
London SE1 9RT
If any of the requested information is missing, this can significantly delay the referral for your patients. We request that you send with the original referral:
- the names and dates of birth of both partners (or indication that the patient is seeking gamete donation)
- relevant molecular or cytogenic reports, which have been performed in an accredited laboratory
- a brief reproductive history
- relevant clinical details if one of the partners is affected by the genetic condition, or any medical condition
- body-mass index (height and weight) for female partner.
Please remember that we usually need DNA samples from the couple and other family members. If you do not think such DNA samples would be available, please contact us to discuss this before referring the couple.
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What is the NHS funding criteria for PGD?
We are happy to accept referrals from clinical genetics services across the UK. Each referral for PGD is considered individually. Since April 2013, NHS England agreed to central funding for couples living in England and, if the defined criteria are met, couples may be entitled to up to three cycles of PGD.
For couples living in Scotland, Wales or Northern Ireland, it is necessary to make an individual application for funding to the relevant health authority. There is no NHS funding for HLA tissue typing.
Funding criteria include:
- at least a 10% risk of having a child with a serious genetic condition*
- the female partner must be under 40 years old at the time of treatment
- the female partner has a BMI of more than 19 and less than 30
- both partners are non-smokers (including e-cigarettes)
- the couple has no living unaffected child from their current relationship (England, Scotland and Wales only)
- the couple is not seeking PGD primarily because they are infertile
- the couples has had genetic counselling from a geneticist or registered genetic counsellor
- the couple must have been in a stable relationship for at least one year, and living together at the same address.
*for chromosomal rearrangements, this includes the risk of miscarriage due to an unbalanced translocation.
We also require that the molecular diagnosis be confirmed in a CPA-accredited NHS laboratory. Parents of de novo cases must have been confirmed molecularly.
If your couple does not meet the above criteria but you still believe they should be considered for funding due to exceptional circumstances, please contact us to discuss further ahead of the referral. Couples can also consider self-funding or private options.
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What are the self-funding referral criteria?
For self-funded care, the patient/couple must be eligible for NHS treatment (i.e. UK resident), but might not meet the specific funding criteria for PGD. There is no fee for the initial appointment with genetics, but payment is required ahead of proceeding with active treatment.
Patients must meet the following criteria to be suitable to pursue self-funded PGD:
- at least a 10% risk of having a child with a serious genetic condition*
- the female partner must be under 42 years old at the time of treatment and have sufficient hormone levels (this will be discussed individually)
- the female partner has a BMI of more than 19 and less than 32
- both partners are non-smokers (including e-cigarettes)
- the couples has had genetic counselling from a geneticist or registered genetic counsellor
- the couple must have been in a stable relationship for at least one year, and living together at the same address.
*for chromosomal rearrangements, this includes the risk of miscarriage due to unbalanced translocations.
We also require that the molecular diagnosis be confirmed in a CPA-accredited NHS laboratory. Parents of de novo cases must have been confirmed molecularly.
The cost of self-funded PGD is approximately £12,000, but individual circumstances can vary. Visit the Guy’s and St Thomas’ Private Healthcare website for more information about fertility services.
If patients wish to seek self-funded PGD, please refer them using our NHS referral form, but clearly state that they are interested in self-funding.
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What are the private referral criteria?
With privately funded consultant-led treatment, your patient(s) can select which consultant they would like to deliver their care. They can see their consultant at all appointments, and they will conduct any procedures. This service is available seven days a week, and patients can book procedures and appointments outside normal office hours, including weekends.
The patients do not need to be eligible for NHS treatment. However, we do request they meet the below criteria:
- at least a 10% risk of having a child with a serious genetic condition*
- the female partner must be under 45 years old at the time of treatment and have sufficient hormone levels (this will be discussed individually)
- the female partner has a BMI of more than 19 and less than 35
- both partners must be willing to consider non-smoking
- copies of genetic test reports and family tree need to be included with the initial referral
- interpreters (if required) should be arranged by the patient.
*for chromosomal rearrangements the 10% risk includes the risk of miscarriage due to an unbalanced translocations
Please note that all private PGD patients will be offered PGD using our 'workup if suitable embryos' (WISE) protocol. If the condition is not testable by this process, then we will be unable to accept the referral. You may wish to contact us to discuss the condition before making the referral.
The price for private PGD treatment is available upon request.
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What is the timeline for PGD?
PGD is a complex process, which varies greatly depending on the condition and the family structure. In general, there is a short wait (under two months) for an initial appointment with our PGD Genetics team to discuss the process and to create a bespoke plan for the couple.
However, it is important to make patients aware that PGD is a lengthy process. We have fertility counsellors who provide free support for couples who are struggling with the wait or uncertainty.
Read our detailed information about the timeline for PGD.
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What conditions are currently licensed for PGD?
The Human Fertilisation and Embryology Authority (HFEA) is the body responsible for licencing specific conditions for PGD. New genetic conditions are added as they are licenced to their website.
If the genetic condition in question is not on this website, we would be happy to discuss whether we would be prepared to make an application for a licence. Please contact us to discuss this ahead of referring your patients for PGD.
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What DNA/blood samples are required?
The laboratory will often require DNA or whole blood from different members of the family in addition to the couple. This is because we perform our genetic testing using a linkage-based method. However, the types of samples we require varies considerably depending on the family structure and the inheritance pattern of the condition.
For most chromosomal rearrangements (translocations), we do not require any DNA samples from family members.
We will request that patient’s parents have genetic testing for the pathogenic variant in the couple, even if it appears that the condition was de novo. Usually we request that this take place through their local Clinical Genetics Service in case any additional investigations are required following the genetic test result.
If you believe obtaining DNA samples from family members would be difficult for your patients, you can discuss this with us prior to referral, or you can include this information along with your initial referral.
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Do you offer exclusion PGD?
The Human Fertilisation and Embryology Authority (HFEA) has licenced exclusion PGD. We can discuss PGD for patients at 50% risk of certain genetic conditions, including Huntington’s disease. However, we strongly encourage couples to consider all of the reproductive options available to them with their local clinical genetics service prior to referral for PGD.
Requests for exclusion PGD will be considered individually and discussed with our multi-disciplinary PGD team.
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Do you offer pre-implantation genetic screening (PGS)?
The term PGS (pre-implantation genetic screening) involves chromosomal testing for embryos at the point of biopsy. It is believed by some health professionals to increase the success rate of fertility treatment.
The British Fertility Society has issued a statement indicating that there is no conclusive evidence that PGS is beneficial, and literature has suggested that it may actually reduce the chance of an ongoing pregnancy. Until large studies known as randomised control trials have been completed, we will not offer PGS to couples undertaking PGD.
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Do you offer PGD on embryos which have been created at another centre?
In some situations, we can genetically test previously created embryos. However, this will depend on how the embryos have been stored, the stage at which they have been stored, and where they are located. The cost of transport of the embryos is not covered by the NHS and would have to be paid for by the couple. See more information about our private and self-funded fees (PDF 36Kb).
If you wish to refer a patient to discuss genetic testing for previously created embryo, please refer in the usual way. Please state clearly on the referral that the patient wishes to test previously created embryos. Information about the location and stage of storage would be helpful, but not absolutely required.
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Training opportunities
We offer regular training opportunities regarding PGD for genetics and non-genetics healthcare professionals. This page will be regularly updated with upcoming sessions. We would also welcome requests to speak at local Journal Clubs or to provide formal teaching.
If you had any queries regarding speaking opportunities, please email us on PGDGenetics@gstt.nhs.uk.
We are pleased to announce a Preimplantation Genetic Diagnosis (PGD) taster day at Burrell Street Auditorium in Southwark, London on Friday 20 March 2020. This day may be of interest to genetic counsellors, consultant geneticists, genetic registrars, or others with an interest in PGD.
The aim of this one day event is to answer your common questions, and for you to leave with a greater understanding of the PGD process. We also hope to help make the referral process easier and quicker for your patients.
Some examples of what we hope to address during the day:
- an update to our new, quicker pathways and protocols
- updated success rates, turnaround times, and waiting list times
- ways for referrers to speed up the patient experience, including specific tips for patients with certain genetic conditions
- what family samples we need and why
- LGBTQ+ issues, including funding and gamete donation
- patient experience – what the PGD journey is like for the patient.
Please register your interest by emailing a.dearing@nhs.net or rhianna.rakhra@nhs.net. The cost of £100 for the day will include refreshments and lunch. Early birds who respond before Thursday 20 February will have a discounted rate of £80.
Space is limited, so please book early to avoid disappointment. Please do not hesitate to let us know if we can be of further assistance in any other way.
Draft timetable for the day (Word 14Kb).
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Downloads for healthcare professionals