I came across this BBC Radio 4 podcast series about at-home DNA testing as I was searching for something to listen to on my way to work, and I found it fascinating. My human genetics background means that I am instantly drawn to anything DNA-related, but I am also one of many people who has received an at-home DNA test (23andMe) as a gift and submitted my DNA to be analysed. Of all the six episodes in the series, I found the penultimate one, titled 'Health' particularly interesting.
The episode focuses on two women. One of them is American, called Sarah, and the other one is British, called Sue. Both received at-home DNA tests as gifts from family.
From the minute that Sarah started talking in the episode, she came across to me as an anxious person. It was because of this anxiety and the fact that she is, as she describes herself 'a mild hypochondriac' that her parents decided to opt her out from the health option in the 23andMe test that they gave her as a Christmas present. However, concerned that she may be at risk of developing Alzheimer's disease, Sarah decided to pay extra to get the health information from the DNA test. These results did not show an increased risk towards Alzheimer's but suggested a predisposition to breast and ovarian cancer development, due to the presence of a mutation in the BRCA2 gene. This unexpected genetic news threw Sarah's life in turmoil. In a very candid conversation with Jenny Kleeman, Sarah narrates her mental struggles and exploration of her medical options, which led her to have a preventative double mastectomy.
Kleeman steps in several times during Sarah's narrative, and in simple terms explains what BRCA genes are, and the risks associated with their variants, and brings in the most famous example of a woman having a double mastectomy, Angelina Jolie. Kleeman invited Professor Anneke Lucassen, a professor in genomics at the University of Oxford to further explain potential issues with using information from at-home DNA tests to make health-related decisions. Professor Lucassen did a fantastic job in clearly spelling out how it could even be dangerous to trust results from such tests, due to low levels of accuracy. Professor Lucassen's comments further enhance the understanding of the potential issues with these tests for the non-scientist listeners.
Sue's story, is very different to Sarah's. In a much more relaxed way, compared to Sarah, Sue's narrated her life before and after she found out she had one copy of the APOE4 gene, and was at increased risk of developing Alzheimer's later on in life. Similar to Sarah, Sue received this genetic news through a 23andMe gift. Again, Kleeman and Professor Lucassen step in to explain all about the APOE4 gene, and the associated Alzheimer's risks, but it is Sue's narrative, which I found gripping. In a very calm and collected way, she outlines the lifestyle changes and money that she has spent so far to mitigate the risk of developing Alzheimer's later on in life.
Discussion of financial costs takes place in Sarah's case as well, further illustrating how an innocent gift can lead to dramatic life changes. It should be noted, they both claim that there are happier to have known about their genetic risk, than not have known.
Knowledge of Sarah's BRCA2 mutation, led her sister to have further genetic tests, which confirmed she also had it. Though rather than opting for a preventative double mastectomy, her sister opted to have six-month check-ups including breast and gynaecological exams. Conversely, Sue's siblings were not interested in engaging with a possible presence of one or even two copies of the APOE4 genes. They preferred not to know. What I found unexpected though, was the fact that Sarah did not want to find out if she passed on the BRCA2 mutation to her daughter.
Something which I thought was missing from the 'Health' episode, was the critical role of a genetic counsellor. A genetic counsellor is mentioned only in passing in Sarah's story, and very briefly discussed in Sue's. Genetic counsellors are extremely important in guiding patients with health problems due to genetic conditions, as well as other members of their families. Professor Lucassen alludes on how genetic conditions are generally handled in an NHS setting, but a more detailed description of the process could have been useful, especially for listeners that may be facing similar issues. It may have given such listeners a guide on how to approach dealing, for example, with an unexpected health-related genetic finding.
Throughout the podcast series, Kleeman reminds the listeners that she took two different at-home DNA tests and is awaiting results. In this episode, she further clarifies that she did not opt in for the additional health information, because she would rather not know. I, on the other hand, did a 23andMe test a few years back, and opted in to as much genetically related health information as possible. Thankfully, the only variant of concern identified in my DNA data so far, is recessively inherited, and is not related to any personal health risk.
I enjoyed listening to the entire series of 'The Gift'. Kleeman should be commended for creating this series and bringing the issues presented by at-home DNA tests into the public eye. DNA sequencing technology is progressing rapidly, and the stories in the 'Health' episode, and the remaining of the podcast, should act as a cautionary tale about factors that we all should be contemplating prior to having our saliva samples analysed to gain an insight into our genetic make-up.
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