The cost of sequencing a human genome has plummeted from hundreds of thousands of dollars to about $20k today. In parallel, there has been an explosion of ‘genotyping’ services that scan your genome and interpret the results for a few hundred dollars. In this session, attendees will hear from experts across this spectrum about the stories that are likely to emerge in the coming year, from cancer research to ethics and of course personal genomics.
Sponsor: Oxford Nanopore Technologies, developing a new generation of DNA analysis technology.
The ABSW has secured a number of personal genomes testing kits for use by attendees of the conference and we hope to hear about the experiences in this session. Personal genome testing kits were kindly been provided by www.navigenics.com, www.decode.com, and www.23andme.com.
The session was split into two parts.
PART ONE (approx one hour)
Introduction: Mark Henderson
Introduction to personal genomics – Daniel MacArthur, blogger on consumer genomics and broader genomic issues. Wellcome Trust Sanger Centre
Genetics 101: what is a genome, what is genetic variation and how does it relate to susceptibility to disease/potential treatment. What is a SNP, what other types of variation are there? The basics of personal genomics – quick overview of recent developments in the field and looking forward, what else is likely to be available in the next 3-5 years.
Genetic counselling: Christine Patch, Guy’s Hospital
How genetic counselling works today, communicating risk to patients and their opinion on the balance between personal freedom to information and counselling support. Where the field of genetic counselling will need development for the future eg segue from monogenic disease to more complex scenarios, number of counsellors.
Personal experiences: panel presentations and discussion.
Three journalists are invited to present and be interviewed on their experiences with their personal genome profile. Round-table discussion with Christine Patch and Daniel Macarthur. Personal genome testing kits have kindly been provided by www.navigenics.com, www.decode.com, www.23andme.com and www.pathway.com.
Richard Hollingham is one of the delegates who has been allocated a kit - hear his initial thoughts here:
Future applications of personal genetic information – what will the future stories be?
Mark Henderson – the general landscape for genomics stories. Quick synopsis of landscape of future stories eg risk management for common disease, pathogen genomes, also non-human genomes.
Focus on Cancer: James Brenton, Cancer Research UK.
How genomics is influencing the study of cancer and examples of how this is translating into new clinical practices. Overview of developments that might be expected in the next year, for example the establishment of CRUK ‘treatment centres’, use of personal whole genome data for Cancer treatment.
Legal and social implications of personal genomics - Alison Hall, PHG Foundation.
Review of the current ethical, legal and social issues that surround genomics. Brief review of the current consumer genomics space. Moving on to the more complex issues that are arising, for example in large scale genome research projects and the challenges that will be faced if/when personal genome sequence data becomes a routine part of clinical medicine in the UK (insurance moratorium, privacy, logistical issues, formation of future-proofed guidelines).
A conclusion to the session with a review of the future potential stories and lists of places and people that journalists can go to for information.
Science Editor, The Times and author of 50 Genetics Ideas You Really Need to Know. Mark Henderson has followed the development of genomic science keenly, including undergoing a number of personal genetic tests. Mark will chair the Future of Genomics session, including providing an overview of the stories that writers might expect to see emerging in the next year.
Daniel Macarthur is a renowned blogger on the science, technology and policy of genomics, with a particular interest in personal genomics (http://scienceblogs.com/geneticfuture/). He is a researcher at the UK’s Wellcome Trust Sanger Centre.
Dr Christine Patch
Chair, British Society for Human Genetics and Consultant Genetic Counsellor and Manager, Guy’s Hospital, London
Cancer Research UK - Dr Brenton’s research of cancer genomics focuses on why some cancer treatments are more effective, or less toxic, in some patients. His area of expertise is ovarian cancer.
Project Manager, Law and Policy, PHG Foundation.
Rebecca Hill, PhD Research Student, University of Sheffield
In the last decade the costs of whole genome sequencing have dropped from $3bn – the cost to produce the first draft of the Human Genome Project – to as little as $9500 for someone with a medical condition. It is expected that within the next ten years prices will have fallen low enough to allow everyone to have their genome sequenced for medical reasons. Even cheaper, however, are genome scanning services allowing you to see a snapshot of your own genome for as little as $500. This session discussed the implications, consequences and impacts of these developments.
After opening comments from the session's chair, Mark Henderson (Science Editor, The Times), there was an introduction to personal genomics by Daniel MacArthur, a blogger on consumer genomics and a geneticist at the Wellcome Trust Sager Institute. He described the process of personal genome scans – after ordering a test online you receive your package, spit into a tube, send it back and access your results at a website. While whole genome sequencing lists every one of the 6 billion letters in your genome, these scans test up to 1 billion letters at known locations where single changes (SNPs) are responsible for particular diseases or traits. You can learn about your ancestry, familial hereditary traits such as hair colour, and even asparagus anosmia (the inability to smell asparagus in your urine), and your predisposition to certain diseases like Alzheimer's. However, these tests are not of the same standard as clinical tests and cannot detect your susceptibility to some diseases, such as Type II Diabetes. Finally, he mentioned the recent discussions in the USA between the FDA and congress about regulation of these companies. He concluded that excessive regulations would stifle innovation and slow development of genomic medicines, but conceded that increased transparency is necessary.
Christine Patch, from Guy's Hospital, talked about her role as a genetic counsellor. She works with people who are at risk of developing a disease and helps them make serious and possibly life-changing decisions. The mutations involved are usually rare variants for single, highly inheritable diseases, and would not be detected in the commercial scans. The test results can often be confusing, and her opinion is that the tests need more control and regulation.
Claire Ainsworth, Martin Robbins, Ed Yong and Mark Henderson have all had their genomes scanned and they shared their thoughts about the process. 23andme, deCODEme and Navagenics all give your percentage risk along with the average risks within a population for each trait. Pathway gives no percentages, just colour coded bands recommending the user needs to 'learn more', 'be proactive' or 'take action'.
Ainsworth (23andme) found the process uninformative, and in some cases inaccurate. A major concern for her was that SNPs that seem innocuous now might be identified as indicators of something more serious in the future.
Yong (23andme) found that, as he is East Asian, 92 % of the results were useless. This is due to a lack of research into genetic traits within this population. As more research is published his results will be updated from statements such as "If you were European you'd have curly hair". He did note that there was a lot of clarity and explanation, but also that he knew what he was looking for and is well educated enough to understand the sometimes quite complicated science.
Robbins (Navagenics) was 'underwhelmed'. His main point was that he was effectively given a 'Wall of Death' listing the percentage risks of various diseases, and questioned whether it's sensible to allow 'pseudo-diagnosis' without an expert to help you interpret the results.
Henderson (23andme, deCODEme and Pathway) found few differences for disease risks, except with his level of sensitivity to warfarin. He mentioned that the tests detected an existing family condition, but that seeing the information in this context hit home more and allowed him to advise his siblings.
Both Ainsworth and Robbins raised questions over the ownership of the data, the responsibility to declare results on insurance applications and the ease with which it could be misused or lead to discrimination. These were echoed by a number of comments and questions from the audience.
MacArthur was of the opinion that any regulations must be nimble and capable of keeping up with the new and changing technologies involved. Issues with the misuse of data and possible use for discrimination are hard to regulate against, as there is no evidence that this is currently occurring.
A major concern raised was the ethics of having disease risks given over the Internet, with no medical intervention at any stage. Research carried out by 23andme showed that those with positive results did not report negative effects, but modified their lifestyles. Patch added that as non-specialists, GPs might not be best placed to discuss rare inherited diseases, and that a more complicated solution would be required. Other ethical issues raised included how your results might affect family members.
Other questions included a discussion of 23andme's business model, and their target audience – is it just the worried well and those who can afford the tests? The test results and consumer surveys are collated, which has led to published findings about inheritable genetic traits, but will more than likely be biased due to the nature of the sample group.
The second part of the session heard Dr. James Brenton from Cancer Research UK and Alison Hall, the Project Manager for Law and Policy at the PHG Foundation speak about their views on the future of genomics.
Brenton discussed the possibility of targeted cancer therapy. Some drugs have no apparent benefit on a wide population, but when tested on a specific cohort may show a bigger effect. By genotyping this subset drugs can be used more effectively, and saves them from being costly failures. Sequencing tools can also be used to monitor the progression of drug resistance in cancer cells themselves and this can help to produce a model for stratified medicine in the NHS.
Hall highlighted the legal issues of testing – from the ownership of the data, how it is protected, what rights each individual had over their genome sequences and the rights and interests of various family members. She mentioned issues such as validation of the age and competency of the user, the dangers of data hacking or that sharing data online may lead to discrimination.
Questions included the removal of data from the system – Hall said that you would expect to have the right to withdraw the data, but issues with aggregation within studies and anonymity may cause problems. Should the company be bought out then you might expect the new owner to keep the existing terms and conditions, but they may not have any legal obligation to.
Overall, it was agreed that the scientific developments in question were important and should be encouraged, but the ethics surrounding personal testing were brought into question. It was clear that while some believed over-regulation would reduce scientific progress, others were keen to keep a handle on the responsibilities of the companies in question, especially with regards to the ownership and protection of the data produced.