Event Review: Knowing or Not Knowing – The ethics of returning genetic risk information for Alzheimer's disease

The ethical dilemmas of returning genetic test results to asymptomatic patients were the topic of the October session of the ELSI Friday Forum. ELSI hub provides educational content, webinars, community news, and other resources focused on the ethical, legal, and social implications (ELSI) of genetics and genomics, and this session was part of their monthly series discussing these topics.

The event description indicated that the session would explore the ethical, cultural, and policy implications of returning Alzheimer's disease genetic risk information. The words 'ethical' and 'cultural' brought me back to my school days and gave me the expectation that I would be observing a philosophical discussion. After watching the webinar, I instead felt I had watched the recording of a typical academic session where studies and results are presented with a brief Q&A at the end.

The session began by asking the audience 'Would you choose to receive your own genetic risk information for Alzheimer's disease – for example, your APOE results?'. APOE, the gene being tested in the studies presented, codes for a protein involved in the transport of fat and cholesterol through the bloodstream and into the brain. Different versions of this gene can be found in different people, and some versions have been linked to higher risks of developing Alzheimer's disease.

This initial question also led me to expect the session would have interactive elements. Instead, the results were not shown on the screen during the recording, and I had to register for an account on another platform to search for them. I wonder if the low reply rate (30 percent) indicates that the fact the results were not visible or explored during the session makes the audience less interested in participating. For those as curious as me, the results were 42 percent 'no' and 58 percent 'yes'.

The moderator, Dr Emily Largent, from the University of Pennsylvania, did a great job of introducing the topic. She gave a brilliant overview of the disease, the current state and future direction of clinical trials, genetic testing for Alzheimer's disease, and therapies being developed for it. She was then followed by two presentations from leading researchers whose work looked at the ethical implications of presenting these genetic results to asymptomatic patients.

First, Dr Ruth Ottman from Columbia University, New York, presented the results of her study focusing on the Latino community in northern Manhattan, which examined the psychosocial, behavioural, and cognitive impacts of learning Alzheimer's disease risk. Dr Ottman candidly highlighted the challenges of this research, such as general population representation in academic studies. This was something mentioned throughout the webinar, very honestly and openly, as it is clear to all of those involved that the groups of participants in these studies are not always representative of the general population. This means that the impacts may be different if these tests are ever available to expanded populations.

Next, Dr Jessica Mozersky from Washington University in St Louis, Missouri, spoke about the results from her cohort study evaluating who declines to learn Alzheimer's disease risk results and discussed the ethical significance of respecting the 'right not to know.' She provided abundant context about social stigma with Alzheimer's disease and participants' opinions about getting their genetic results for risk, knowing that no clinical management is currently available.

Dr Mozersky called Alzheimer's disease 'a highly feared disease: evidence says more feared than cancer.' She believes this is 'related to the ultimate, progressive nature of the disease and loss of autonomy and decision-making capacity'.

Despite this, the ongoing clinical trials that could lead to therapies in the near future were mentioned throughout the webinar, and existing therapies that may delay disease progression were emphasised. I found this to be the highlight of the presentation portion of the session.

The final Q&A brought up some interesting discussions, such as the validity of existing private tests for the risk of developing Alzheimer's disease and interpreting results without the support of genetic counsellors.

Some of the topics were less interesting to me, such as the implications of disclosing genetic results. These have potentially serious consequences in insurance-based healthcare systems, like the USA, but are less relevant in the UK context.

As an academic, I found the session interesting, and it made me question some ethical implications of reporting genetic results, particularly when discussing risk and in the absence of curative treatments. However, I found the language and the format less accessible to a non-academic audience and found the complexities of the multiple platforms containing information about the session difficult to navigate for non-ELSI hub members.

I think the webinar aims were somewhat met in a traditional structure of results presentation that I would recommend to researchers in these fields. Personally, I left with a feeling that I wanted a deeper discussion on the topics and less of an academic presentation.