PGD application process

When judging whether a condition should be added to the PGD list, the HFEA must ensure that various legal criteria are met. This includes the requirement that there is a ‘significant risk’ that the person with the genetic, chromosomal or mitochondrial abnormality would have or develop a ‘serious medical condition’.

‘Significant risk’ relates to the penetrance of a condition. The penetrance of a condition is an estimate, in percentage terms, of the likelihood that someone with the abnormality would develop the condition in question. A condition might have:

  • full penetrance (100% - it is certain that a person with the abnormality will develop the condition in question) or 
  • incomplete penetrance (only a subset of people with the abnormality will develop the condition). In these cases, penetrance is usually represented as a range of percentages (e.g. 40% – 60%)

When assessing the seriousness of a condition, we will take into account various factors, including:

  • age of onset
  • symptoms
  • treatability
  • quality of life associated with condition

Some conditions might have variable phenotype whereby the symptoms associated with the condition can vary from family to family. This, in some cases, might range from the mild to the serious.

When considering applications for conditions that have incomplete penetrance and/ or variable phenotype, the HFEA takes a ‘worst case scenario’ approach. This means that we will base our decision on the highest penetrance figure and the worst possible symptoms. This approach ensures that nobody is denied access to PGD if, in their particular case, it is justified. However, it also means that you should ensure that treatment is appropriate in each individual case, and follow the Code of Practice guidance on embryo testing.

If you are seeking to add a condition that has multiple types and have a patient awaiting treatment for one particular type, please let us know, so that we can process the one relevant to your patient as a matter of priority.

In addition, when making an application for a new condition, you may feel that there is a heighted risk that a patient could be identifiable as a result. This situation might occur in exceptional circumstances. If this is the case, you should provide evidence supporting this assertion along with your application. The Chair and Chief Executive of the Authority will then decide on the basis of this evidence and evidence from peer reviewers whether or not to withhold publication of the condition from the PGD list.

The key steps of the procedure are:

  • Submit application via HFEA clinic portal (hyperlink to form plus guidance) 
  • HFEA Executive checks for completeness and liaises with centre. If necessary, centre re-submits revised application
  • A lay summary of the condition is published on the HFEA website to allow any interested parties to comment to comment on the application. It is also included in the ‘PGD update’. View the ‘PGD conditions awaiting consideration’ list to see current conditions in process.
  • Comments are directly sought from: peer reviewers or relevant medical charities (via Genetics Alliance UK)
  • All the evidence is shared with the centre who is invited to provide any final comments
  • The application and supporting paperwork is considered by the HFEA’s Statutory Approvals committee (SAC), who decide whether to approve or reject the application, with the help of criteria set out in the PGD decision tree.
  • The decision, along with any relevant rationale, is communicated back to the applicant centre and to all centres with an embryo testing licence
  • The condition is added to relevant authorised/ rejected PGD list

Each centre will have to notify the HFEA when they first carry out PGD for a condition they have not previously tested for. This notification must be sent within 5 working days of you carrying out the test. The notification should be sent to pgd@gov.uk.

Sex Selection

In the UK, sex selection is only allowed to avoid having a child with a serious medical condition; it is illegal to carry out sex selection for social reasons (e.g. for family ‘balancing’). You can only provide sex selection for a condition that is already on the PGD list and the authorisation process for any gender-related conditions that are not on the list is the same as the one for PGD.

 

Page last updated: 01 April 2014