Podcast Review: Experiences with Preimplantation Genetic Diagnosis

The episode, Experiences with Preimplantation Genetic Diagnosis, from the Rareminds podcast series tells us more about a lesser-known technique used during IVF and the emotional challenges it entails.

I've always seen IVF as the last resort to have a child after failing to conceive spontaneously. However, after listening to this podcast, I realise that some people who undergo the treatment do not necessarily have fertility problems.

Preimplantation genetic diagnosis (PGD) is a technique used in reproductive medicine to allow people affected by genetic diseases to have healthy children. As in standard IVF, egg and sperm cells are retrieved from prospective parents and mixed in the laboratory to produce embryos. For PGD, prior to transfer, the embryos are tested to determine if they carry a specific genetic disorder. The embryos that do not carry the disease are then selected for transfer.

I have to confess that I do not usually listen to podcasts. Although I spend a lot of time on trains for my daily commute, I prefer to listen to music after a long day at work. When I received this commission for BioNews, I hesitated to accept in fear that I would have to make a mental effort to listen to a 45-minute podcast about fertility treatments. However, I felt relieved after the first few minutes, as the episode explains the science and technical details of PGD through the perspective of a woman who is undergoing the treatment.

The listener is guided through the process by Mary, a woman who is currently undergoing PGD with her partner Joe. She is joined by two other women: Dr Sarah Wynn, CEO of Unique, a charity that provides support to people affected by rare genetic conditions, and Kym Winter, who leads the discussion and is the CEO of Rareminds, a charity that offers psychological counselling to people affected by rare diseases.

At the beginning of the episode, we hear that Mary is undergoing PGD because her partner Joe is affected by multiple endocrine neoplasia (MEN), a rare genetic disorder in which people may develop tumours in the endocrine system. MEN is an autosomal dominant disease, meaning that every child of an affected parent will have a 50 percent chance of inheriting the disease.

As Mary tells us of her experience, from the beginning of her relationship with Joe, passing through Joe's first medical problems, up to the moment in which they decided to have children, the conversation touches on many relevant questions that provide an opportunity to reflect for the listener: how does a genetic condition affect a couple's relationship? What are the available options to have children in this context and how to choose between them? How to cope with an unsuccessful PGD outcome?

Mary tells the listener that she and Joe started dating at a very young age, and Joe had not previously had any major medical problems. The topic of having children and the possibility that they might inherit the disease did not come up in the conversation until much later on, and did not influence their decision of being together.

Sarah explains the options that are available for people who want to have children in this situation: conceiving naturally and having the fetus tested in the womb, adopting a baby, or undergoing IVF with sperm from an external donor (if the father carries the genetic condition). Something that I appreciated is that nobody ever tried to suggest that one way is better than another in facing the problem of having children with a rare condition. This is exemplified by the fact that even Mary and Joe initially had different views on the topic, but finally reached a common decision, stressing how communication is important for all couples.

As the conversation goes on, Mary adds that it is fundamental to have people who can offer support. Moreover, since the physical and emotional cost of PGD is mainly on the woman, this created an opportunity for her and Joe to rebalance their relationship: while Mary was the primary care-giver when Joe was undergoing treatments related to his condition, it is now Joe who is giving care when she is undergoing the hormonal stimulation and egg retrieval procedures.

While Mary offers a more personal and emotional perspective on the topic, Sarah stands out as a complementary figure who usually fills in with more scientific and practical details. Overall, the contrasting balance between the two women and the points of view they offer constitutes a very good mix that makes the podcast not too emotional and not too technical at the same time.

I would recommend this episode to anyone who is planning to have a baby and has, or whose partner has, a genetic condition. As Kym herself says in the final part of the episode, recalling a previous conversation she had with Mary: 'This is the sort of podcast that you would have wanted to listen to a couple of years ago when you were just starting on this, or even just now to know that someone else is out there going through it.'

Spoiler alert: Mary and Joe did not get any embryos without MEN so far, which reminds the listener that going through PGD is not necessarily a guarantee of success and it is important to know how to cope with it. Despite this, Mary maintains a positive tone such that the listener is not discouraged but is nevertheless aware of what to expect. Mary and Joe keep on trying and the episode ends with a glimpse of hope for the future.