The Festival of Genomics took place earlier this week in London. Many of the talks at this year’s meeting addressed issues related to patients, research participants and families who provide the genetic and genomic data that make all of the research possible.
One of the current issues in genetic medicine is the lack of reference data for a large part of the population. Lakshmi Maithel introduced GenomeAsia 100K’s initiative to sequence South Asian genomes. This group accounts for a quarter of the world’s population, but is underrepresented in genetic databases. The same is true for African populations. Nicola Mulder, of the University of Cape Town, showed the progress H3Africa is making in studying genetic diseases in Africa. Besides a lack of reference data, African genetics also struggles with lack of access to training, and with infrastructure problems: H3Africa ships some of their data on hard drives because internet access in Africa is too unreliable and inconsistent!
Another underrepresented group are indigenous populations. Catalina Lopez-Correa briefly mentioned the Genome BC-funded project Silent Genomes, which tackles the challenge of lack of reference data for indigenous people in Canada.
Having a large and diverse resource of genetic information would help researchers, clinicians, and ultimately patients. But we shouldn’t forget that people have to consent to have their genetic data collected and shared with healthcare providers or researchers. One challenge we now have with the way consent is obtained from patients and research participants is that it’s often a one-time decision. Health law expert Jane Kaye introduced Festival of Genomics attendees to the idea of dynamic consent, which allows people to maintain control of access to their genetic information, and gives them the opportunity to change that consent at a future time. But whether consent is done with a piece of paper or through a dynamic online system, the people who give consent have to understand what it is they are consenting to.
When it comes to talking about genetics, not everyone has the same background knowledge. Anna Middleton’s presentation on public attitudes to genetics showed that only 18% of people understand what a genome is, and that 46% say they aren’t familiar with the terms DNA, genetics, and genomics. That makes it difficult to have broad discussions about data sharing, for example.It also shows the challenge that genetic counsellors have when talking to patients. They need to be sure that patients understand what they are consenting to before a genetic test, and when discussing result and diagnosis. Here, the problem isn’t just that not everyone has the same knowledge about genetics, but also that there is a lot of uncertainty inherent to genetic testing. How do you communicate the meaning of a VUS, for example? Or how do you follow up with patients when more information becomes available about their variant? Communication is a crucial aspect of genetic medicine.
Engagement and connecting
Providing information is important, but it should not just be a one-way communication. Simply increasing genetic literacy isn’t enough. Rather, people need to be able to engage with information, with experts, and with each other. This was a message that came through in several of the talks at the festival. For example, Sally Greenwood mentioned that Genome BC is prioritising engagement now, so that once genetic technologies become more widespread, the conversations about it have already happened. And Anna Middleton pointed out that we need to understand what it is that is holding people back from wanting to share genetic information (such as conspiracy theories) and engage on the topics that need attention.
The charity Unique hosted a panel discussion focused entirely on patient engagement, and on what clinicians and researchers can learn from patients. Jillian Hastings-Ward, who is Chair of the Participant Panel of the 100,000 Genomes Project, described how having a son with a rare disease impacted their family, and how she experienced interactions with clinicians and genetic counsellors. She pointed out the importance of being made to feel in charge of the conversation with medical professionals.
For patients and families, a diagnosis is only the beginning. Unique’s information officer Arti Patel said that their organisation receives a lot of phone calls and emails from people who have just had a diagnosis. These people have questions that are not directly related to medical symptoms. They might want to know whether their child will ever be able to live independently, or where they can find support groups. Unique keeps a database of different chromosome and single gene disorders that doesn’t just include the genetic and medical information, but also keeps track of all the social support resources, tips and other information that families and patients provided.
Overall, this year’s Festival of Genomics sessions showed a growing awareness that genetic medicine cannot be practiced without involving patients and research participants. It was a striking change from last year’s technology-focused event, and a reminder to focus on the humans in human genetics.