When living with a rare condition, it can be very easy to never meet another person with the same co…
Preimplantation genetic diagnosis (PGD) is an important tool for families affected by genetic conditions. Genetic Alliance UK is proud of the work that we have done in this area, and our continued contributions to the Human Fertilisation and Embryology Association’s (HFEA) licensing process for the technology. We are excited to announce that we have now reached 200 submissions to the HFEA in support of the licensing of PGD for specific conditions.
PGD gives couples at risk from serious genetic conditions an alternative option when considering their reproductive choices. Previously, couples who wished to avoid the birth of a child affected by a genetic condition had to choose between abstaining from having children, trusting to chance that their child would be healthy, or antenatal testing and termination when an affected foetus is detected. For many couples these options were unacceptable.
PGD is a technique that enables couples with a particular inherited condition in their family to avoid passing it on to their children. The process involves the use of assisted reproductive technology (ART). Eggs are obtained and fertilised through in vitro fertilisation (IVF). The genetic material (DNA or chromosomes) within one cell of the embryo is tested for the genetic or chromosomal abnormality before being implanted into the woman. If successful, the procedure will result in pregnancy and the child should not be affected by the condition for which it was tested.
The HFEA considers individual genetic conditions for PGD licensing on a case by case basis. Since 2009 we have been been submitting supporting statements, at the request of the HFEA, to bring patient voice to the licensing process.
Applications for licensing are generally submitted when a couple are actively seeking to receive PGD to avoid the conception of a child with a genetic condition. Often one partner is affected by the condition themselves, has a parent who was affected by the condition, or the couple already have a child with the condition.
The HFEA requires that a couple be at risk of having a child with a “serious” medical condition for it to be licensed. The judgement about the seriousness of the condition is usually based on the age of onset, symptoms, treatability, and the quality of life associated with the condition. It is essential to us that the patient’s perspective is considered as part of this judgement - as they are the ones that really understand how seriously the condition has already impacted on their family.
Our submissions sit alongside applications to the HFEA and statements from peer reviewers, to provide some idea of the familial experience that leads a couple to seek PGD.
In our submissions we discuss the implications of inheritance. Dominant conditions can cast a shadow across generations and recessive conditions can come to a family as a devastating shock out of the blue. We highlight the experience of patients with genetic conditions - that many of these conditions do not have any treatment, let alone a cure, and where treatments exist, they are rarely without risk or fully effective. We make clear the impact on a whole family, including siblings, parents and carers, not just on individuals.
At the heart of our work on PGD is the knowledge that a couple’s decision to choose PGD is being made from a place of informed experience. They will have experienced the condition, either by being affected themselves, or watching a loved one battle the illness, and therefore are the best experts on how serious a condition is, and how it affects an individual's life.
Where we have submitted a statement to be considered alongside an application for a single gene disorder, the licensing committee has not yet refused an application. This shows how seriously the committee takes patient voice, and how powerful the impact of its inclusion can be.
Currently, we are contributing to the development of the regulation of mitochondrial replacement therapy, and hope that with our input, the regulation process will include as much patient and public involvement as possible.
The legal basis for the decision making criteria for mitochondrial replacement is similar to that of PGD. We believe that the regulation of mitochondrial replacement should be in line with that of PGD. On a practical level this means that where the “seriousness” of a condition has already been tested during the process of regulation for PGD, we hope that it will not have to be re-evaluated for mitochondrial donation.