A recent study, published in the European Journal of Medical Genetics, has explored the understanding, attitudes and involvement in decision-making about genome sequencing of young participants from the UK 100,000 Genomes Project. The report suggests that at least some young people are capable of making informed decisions about taking part in genome sequencing.
Impact of genome sequencing
The advent of next generation sequencing technologies has revolutionised the way genetic testing is being conducted. Evidence has shown that genome sequencing increases diagnostic yield almost two-fold compared to conventional panel testing, and four-fold compared to microarrays. Genetic testing has shortened patient diagnostic odyssey, improved access to information, provided clearer prognosis, informed reproductive planning and directed patients to support groups. As seen with the recent launch of genetic service WINGS, genome sequencing is set to have a profound impact on newborns and young children with rare diseases.
In recent years, a range of work has emerged exploring adult patients’ experiences and attitudes towards genome sequencing. However, very little research involves young people. Young people with health issues are likely to experience different physical, psychological and social challenges than both young children and adults. Therefore, it is critical to give them a voice.
In the UK, children under 16 years cannot make decisions about their healthcare without parental consent. An exception is if the child can prove to have sufficient maturity and intellectual capacity (‘Gillick competence’). This age varies across European countries and differs across states in the United States. However, previous studies have shown that young people do not frequently have the capacity to be actively involved in discussions about their healthcare. Engaging young people in meaningful conversations about genomic testing and its potential findings is important and has been associated with lower decisional conflict.
In December 2018, the UK’s 100,000 Genomes Project was completed. The aim of the project was to uncover new diagnoses and prepare the NHS for the introduction of genomics into clinical practice. In particular, a lot of attention was focused on involving young people in the decision-making process. This included the development of age appropriate material and written assent forms for participants under 16 years. In the rare disease arm, around a quarter of patients were 15 years or under at the time of participating. Participants ≥16 years were also able to opt-in to receive clinically actionable secondary findings, such as BRCA1/2. Parents of children under 16 were also able to consent to receive secondary findings.
Young people’s voices
In this study, researchers conducted 27 semi-structured interviews with young people aged 11-19 who took part in the 100,000 Genomes Project. The team found that:
- Participants understood the role and function of genes and DNA. However, the terms ‘genome’ and ‘genome sequencing’ were understood less.
- The primary motivation for taking part was to get a diagnosis to identify the gene causing their condition.
- The majority of participants acknowledged that they may not receive a diagnostic result.
- Most participants were not concerned about data security of access.
- Patients were anxious about what the results might show and also expressed disappointment should they receive a negative result.
- Most felt the decision to take part was patient-led or a joint decision with their parents.
Above all, involving young people in decision-making is empowering. Most young people (≥16 years) in the study had come to the decision to receive secondary findings without parental influence. The authors describe four capacities that are required for medical decision-making. These include: (1) communicating a choice, (2) understanding, (3) reasoning and (4) appreciation. In this study, the team found that participants understood their participation was voluntary and a choice (capacity 1). They understood that they were going to undergo genome sequencing (capacity 2). They could logically weigh up benefit and risks of taking part (capacity 3). Finally, they could appreciate the relevance of taking part for themselves as well as others (capacity 4).
Evidently, these results are important for clinical practice as it shows the importance of healthcare professionals actively involving young people in discussion and decision-making. The team recommend that written assent should continue in practice as participants valued being involved in the decision-making process.