Ethics of genomics
Exploring the application of ethics and law in clinical practice.
Since the completion of the Human Genome Project in 2003, genomic testing is becoming routine and today, an entire human genome can be sequenced in a few days for less than £1,000. But what does all this genetic information mean for patients and the decisions healthcare professionals make about their care? Research at the Clinical Ethics and Law Unit at Southampton (CELS) is bridging the gap between current clinical practice and emerging ethical dilemmas.
“Looking at an entire genome is essentially a ‘trawling’ test rather than ‘fishing’ for specific information,” says Anneke Lucassen, Professor of Clinical Genetics at the University and Honorary Consultant in Clinical Genetics. “In the past, we looked for particular genes, such as the BRCA1 gene for breast cancer. However, now clinicians are able to look at the entire genetic code and to predict what illnesses a person might develop.” This is a new approach for medicine that has uncovered a range of challenges. For example, what exactly is the result from a test analysing three billion letters? Although many polls and surveys suggest that patients want to know ‘everything’, it is often far from clear what much of the sequence output might mean in practice, in terms of diagnosing or predicting disease. One area of focus for Anneke’s team is considering how clinicians should approach incidental or unexpected findings from genomic testing. “If you went to see your doctor because of backache and they did a test that identified a lung tumour, most people would agree that the doctor should tell you about the tumour,” says Anneke. “However, a genomic test to diagnose say, learning difficulties in a two year old, might suggest an increased risk of cancer in 30 years’ time. It is much more difficult to know when, how and to whom to communicate such information.”
Looking at an entire genome is essentially a ‘trawling’ test rather than ‘fishing’ for specific information.
Communicating test results
Other challenges relate to the familial nature of the information. If the results show that someone has an inherited risk of developing cancer in the future, whose responsibility is it to tell other family members that they too might have inherited this risk? CELS research shows that there are no simple answers to such questions and that contextual aspects are important. “An incidental finding that shows someone isn’t the biological father of a child will need to be handled differently to the discovery of an increased risk of sudden cardiac events,” says Anneke.
There are complex issues of confidentiality that clinicians have to navigate, she explains: “We have a long way to go, because the medical profession is, understandably, rather entrenched in the idea of dealing with the individual patient and individual confidentiality,” says Anneke. The CELS team has done a key piece of research that identified a gap between the views of informed patients and health professionals on sharing results of genetic tests. “Healthcare professionals are concerned about privacy, confidentiality and perhaps worries about being sued, whereas patients are much more open to sharing genetic information with their families, and they sometimes expect their clinicians to do this for them; we need to reach a common ground between these different viewpoints,” says Anneke. They have suggested that a pragmatic way to bridge this gap would be to view genetic information as something that is familial, perhaps similar to a ‘joint account’ that can – and should – be accessed by different family members, but to view the clinical information about a heritable condition as something confidential to the individual patient. “So in practice, as a clinician you wouldn’t tell a relative about the diagnosis of their auntie, say – that could be breaching confidence – but instead you tell them that they might have inherited a risk factor for a particular condition,” says Anneke.
Dealing with requests for childhood genetic testing for adult-onset conditions is another challenging area for clinicians. Parents often want to test their children to find out what they have endowed them with, but this clashes with recommendations from several international bodies that you shouldn’t test a child unless there is a medical benefit at the time of testing, or they can consent to the test themselves. “This is important to enable the child to make their own choices in the future about what they do or don’t want to know about their own health”, says Anneke. Her team’s research informed national guidelines and CELS members have contributed to their development.
Public engagement is a crucial part of CELS’ work and the team’s research has also highlighted how people’s opinions on such issues can change depending on the amount of information they have. “We did a YouGov survey asking parents whether they thought they had a right to test their children for adult onset diseases, and most insisted that they did. However, when groups of the parents had a more in-depth discussion, they often reconsidered and decided to wait until the child was older to have the test, so more in line with the guidance,” says Anneke. This highlights the importance of both information and discussion for making considered decisions. “If we can all buy a genetic kit from our pharmacy and do testing without any discussion of what it might tell us, the decisions we make will be very different than if it was done in a setting where the nuances and complexities are discussed,” she adds.
This is a very exciting time to be looking at the ethical issues around genomics, and being grounded in clinical practice – taking real-life situations and tackling them through our research – makes us ideally placed to address them.
Looking to the future: what does a ‘diagnosis’ mean?
With a recent seed award from the Wellcome Trust, Anneke and her team are developing their research to the issue of what a diagnosis means in the context of genomic medicine. “We tend to think of conditions, such as diabetes, constituting diagnoses,” says Anneke. “However, if you are perfectly healthy but have a genetic predisposition to something in the future, when does that become a diagnosis?”
The research team is mapping through the lifecourse, looking at whether there are differences between a genetic diagnosis and a clinical diagnosis from preconception – when parents are offered tests for conditions that their children, who haven’t yet been conceived, might be at risk of in the future – to after death.
These issues are only going to become more pressing with the NHS set to create a new genomic medicine service. Southampton is one of 13 UK centres that is offering whole genome sequencing to NHS patients as part of the 100,000 Genomes Project, which aims to sequence 100,000 genomes by 2017 to kick-start the genomics industry in the UK. The research of CELS will be addressing the ethical issues this brings up, as they arise in the clinic.
“This is a very exciting time to be looking at the ethical issues around genomics, and being grounded in clinical practice – taking real-life situations and tackling them through our research – makes us ideally placed to address them,” says Anneke.
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