Introduction by Nick Meade, Director of Policy, Genetic Alliance UK
Preimplantation genetic diagnosis (PGD) can be an important option for people affected by serious genetic conditions to consider in their decision-making when starting a family or having another baby. The technique is regulated by the Human Fertilisation and Embryology Authority (HFEA), the UK’s independent fertility regulator. You can read here about how the HFEA goes about delivering this regulation duty.
One thing for the HFEA to regularly consider in doing this, is whether the quality of care available for a genetic condition has improved within a given review period. While such advances are welcome for patients, they may also mean that theoretically the condition becomes less ‘serious’ to live with, or to be born with. That advance in care means that the HFEA’s statutory approvals committee has to review whether the legal criteria for permitting PGD are still met. As set out in the previous blog post, under the law, the HFEA must be ‘satisfied’ that embryo testing is carried out only where there is a ‘significant risk’ that a child born with the condition in question would have or could develop a ‘serious’ medical condition. It is the HFEA’s responsibility by law to assess whether a condition meets these criteria.
So a part of HFEA’s duty is to review previous decisions to help inform whether they should continue to permit PGD for certain conditions. The HFEA have a process to determine whether the basis of their approvals should stand following advances in healthcare.
This process has the potential to remove conditions from the list of conditions authorised for PGD in the UK. Though this is a technical process, to help make it more transparent, we’ve asked Stevan Cirkovic, Policy Officer at the HFEA to set out how it works. Stevan helped to support the HFEA’s process for the most recently completed PGD review, which confirmed all conditions on the list. If you’d like to know more about PGD and the HFEA’s role in relation to it, please see part one of this series.
The 2018 PGD Conditions Review: Purpose, process, and outcomes
As you can read in part one of this series, a component of the HFEA’s decision to authorise PGD for a condition is based on the ‘seriousness’ of the condition. The ‘seriousness’ of a genetic condition is unlikely to change unless new treatments or cures become available. The HFEA has a review process in place for assessing treatment advances and their impact and accessibility and carried out the most recent review in 2018. Every five years, HFEA looks at what developments there have been in terms of treatments or potential cures. This includes treatments that might already be in clinical use.
HFEA use three critical questions to assess this:
- Is there a new treatment which significantly changes mortality, symptoms, and/or survival chances for patients?
- If so, can patients in all parts of the UK get access to it through the NHS?
- Are there any other developments? For example, are existing treatments now more effective or more widely available?
This year HFEA reviewed all 336 conditions which had been approved before 1 April 2015. A panel of geneticists was asked to provide us with any information on the three questions above for each of those conditions. Based on this HFEA grouped them the conditions into three categories:
- 307 of the conditions (91%) had no treatment advances or advances in research only
- 23 of the conditions, (7%) were identified to have had developments in care, but there is doubt either over access to UK patients, or that the development significantly affects morbidity, mortality and/or prognosis for patients
- For six of the conditions, (2%) a treatment was identified that was both potentially accessible and made a significant difference to the morbidity, mortality and/or prognosis for patients.
HFEA consulted with Genetic Alliance UK on the six conditions in the last group for a patient view on how life with the condition might change with the new treatment. Genetic Alliance UK were also able to help HFEA find evidence as to whether effective new treatments were available across England, Scotland, Wales, and Northern Ireland.
Although many new drugs and procedures offer promise to those currently affected, they may fall short of addressing the full range of symptoms or have serious risks themselves. In such cases, this might not significantly change the assessment of seriousness.
After having gathered all the evidence from geneticists and patient groups, HFEA’s PGD Working Group met to discuss the findings and assess whether any of the conditions would move into the next phase. The results of the group’s deliberation for each condition is below:
|Condition||Working Group assessment||Advanced to next phase?|
|Acute Recurrent Autosomal Recessive Rhabdomyolysis (OMIM number 268200)||New treatments that are not significantly disease-modifying||No|
|Citrullinaemia type 1 (OMIM number 215700)||New treatments that are not significantly disease-modifying||No|
|Homozygous familial hypercholesterolaemia (OMIM number 143890)||New treatments that are currently not accessible or affordable for all UK patients |
Decision: To be reviewed in a year
|Hypophosphatasia (Infantile/perinatal lethal) (OMIM number 241500)||New treatments that are not significantly disease-modifying||No|
|Malignant infantile osteopetrosis (OMIM number 259700)||New treatments that are not significantly disease-modifying||No|
|Severe combined immunodeficiency – adenosine deaminase deficient (OMIM number 102700)||New treatments that are not significantly disease-modifying||No|
None of the conditions passed the three critical questions from above and so the review was halted for all of them, as summarised in the table above. This means they will remain on the PGD list. The second phase would have involved a detailed peer review and patient consultation. The same process is applied either when adding or removing conditions.
HFEA will revisit homozygous familial hypercholesterolaemia by October 2019 because a new treatment (lomitapide) is currently being considered for funding in Scotland and Wales. All other conditions will be due for review again in 2023.
- Part one – Preimplantation genetic diagnosis and the HFEA’s role
- List of all conditions approved and currently being considered for PGD
- Key facts about PGD
If you have any questions about the HFEA’s role in relation to PGD please get in touch at [email protected]create new email