Would you have your genome sequenced? | Dr Saskia Sanderson | TEDxGoodenoughCollege

Summary

In the coming years, genome sequencing will become a common choice for individuals, whether for personal health, research, or family history. While the technology promises great potential, it brings with it psychological challenges. The script explores the role of psychology in genomics, emphasizing how people's understanding and emotional reactions to genomic results can influence their health decisions. Using examples, including a personal story about bipolar disorder, it highlights the need for psychological research alongside genomic advances to ensure that individuals make informed choices, minimize stress, and gain the most benefit from this evolving technology.

Takeaways

• 😀 Genome sequencing technology will become increasingly available within the next 15 years, raising the question of whether people will choose to have their genome sequenced.
• 😀 The decision to sequence one's genome is complex and depends on personal, familial, and medical factors, such as being a patient with a rare disease or cancer, or being a participant in genomics research.
• 😀 Psychology plays a critical role in understanding the impact of genome sequencing, as individuals' responses to genomic information will affect the technology's utility and outcomes.
• 😀 Your genome consists of a complete set of DNA, containing about 3 billion chemical units (A, T, C, G), with small genetic differences (about 3 million variants) that can influence health, disease risk, and response to medications.
• 😀 Genome sequencing reads the order of genetic letters in your DNA, providing powerful data that can help identify genetic variants relevant to your health, though it requires interpretation by scientists to be meaningful.
• 😀 The cost and time to sequence a human genome have drastically decreased, from $3 billion and 13 years to under $1,000 and less than 48 hours, with hundreds of thousands of people already having their genomes sequenced for various purposes.
• 😀 By 2033, tens of millions of people may have their genomes sequenced, helping to advance research and healthcare, though integrating this technology into existing healthcare systems presents challenges.
• 😀 Ethical questions arise around the impact of personal genomic results, but these are also psychological questions—how will people interpret the results, and how will they feel and act based on that information?
• 😀 The interaction between genetics (nature) and environment (nurture) is key in mental health, as illustrated by the speaker’s personal experience with their mother’s bipolar disorder, which was likely influenced by both genetic predisposition and life stressors.
• 😀 Genomic information can be used to assess the genetic risk of diseases like cancer and heart disease, potentially allowing for early interventions to reduce risks before symptoms appear, but there are concerns about psychological harm or false reassurance from the results.
• 😀 Research, like the HealthSeq study, shows that while some individuals may feel distressed after receiving genetic risk information (e.g., sudden cardiac death), most adapt over time and report no regrets about learning their genetic risk.
• 😀 Understanding the psychological impact of genomic information is crucial for ensuring that genomic sequencing benefits individuals and society, and that people receive the support they need to make informed decisions about their health.

Q & A

What is genomics, and why is it important to consider in healthcare?

Genomics is the study of an individual's entire genome, which is the complete set of DNA, including all 20,000 genes. It is important in healthcare because it can provide insights into genetic risks for diseases, responses to medications, and potential preventive measures, thus improving diagnosis and treatment strategies.

What is genome sequencing, and how does it work?

Genome sequencing is a process used to determine the exact order of the 3 billion letters in an individual's DNA. A blood or saliva sample is taken, the DNA is extracted and processed by sequencing machines, and a list of genetic variants is produced, revealing differences between individuals.

Why are the 0.1% differences in our genomes important?

The 0.1% difference in our genomes accounts for approximately 3 million variants, which influence various traits, including physical appearance, disease risks, and how the body responds to medications. These differences are significant in understanding personalized health.

How has genome sequencing technology evolved over the last 15 years?

In the past 15 years, genome sequencing technology has progressed significantly. What once took 13 years and cost $3 billion to sequence one human genome now takes less than 48 hours and costs under $1,000 per genome.

What ethical concerns arise from genome sequencing?

Ethical concerns include how individuals will cope with the results of genome sequencing, how they might react to discovering genetic risks, and whether they will be stigmatized. Additionally, there are questions about privacy, consent, and how to provide appropriate support for individuals.

What role does psychology play in genomics?

Psychology plays a crucial role in genomics by helping us understand how individuals interpret and react to their genomic results. It involves studying how genomic information affects people's behavior, emotions, and decisions, ensuring that proper support is provided to mitigate any negative psychological effects.

What psychological impact did genome sequencing have on participants in the HealthSeq study?

In the HealthSeq study, most participants did not experience distress from their genomic results. However, one participant, who received high-risk results for sudden cardiac death and Alzheimer's, initially felt distressed but later became reassured after further testing and consultation.

How did the HealthSeq study measure the psychological impact of genomic results?

The HealthSeq study measured psychological impact by interviewing participants before, immediately after, one week after, and six months after they received their genomic results. They used a distress scale called the Micro to assess changes in emotional responses over time.

What were the findings of the HealthSeq study regarding high-risk genetic results?

The study found no evidence that high-risk genetic results for diseases like type 2 diabetes or heart disease motivated lifestyle changes. However, some individuals did seek medical consultations or tests based on their results, showing that some participants took proactive health measures.

How can genomics be used to prevent diseases like cancer and heart disease?

Genomic information can be used to identify individuals at high risk for diseases like cancer and heart disease, allowing for early intervention, lifestyle changes, and targeted prevention strategies. This proactive approach could reduce the incidence and severity of these conditions before symptoms develop.