Exploring the Ethics of Genetic Testing: What Does Consent Mean?

As with any medical procedure, to undergo genetic testing, informed consent must be given.

According to the National Institutes of Health, informed consent (in the context of genetic testing) is the process of making sure that, wherever possible, a patient fully understands:

• The procedure
• Its benefits and limitations
• The possible outcomes – both positive and negative

With this information, a patient can make an educated, voluntary choice i.e. they are informed to a level such that they can provide consent. This is usually a legal and ethical requirement in medicine.

Whilst this might seem like a relatively simple concept, for genetic testing, informed consent suddenly becomes a whole lot more complex. Bioethicists, experts in the ethical practice of biology and medicine, often use case studies to explore these complexities and to discuss potential solutions to the dilemmas arising from them.

Counseling and consent

In the US, Jodie’s journey towards genetic testing may begin with a genetic counseling appointment.

Genetic Counselor Margarita Raygada, Ph.D., explains the role of a genetic counselor in cancer care and shares the benefits and implications of genetic testing for patients and their families.

Genetic counselors are individuals educated in both medical genetics and counseling. This gives them the expertise to provide patients with the knowledge required to give consent, but also to offer guidance and support. As such, they are most likely the person who will be responsible for gaining informed consent from the patient.

Laura Hercher, Director of Research in Human Genetics at Sarah Lawrence College, has almost 20 years’ experience working as a genetic counselor. She emphasizes that the role of counseling goes far beyond testing alone:

“Genetic counseling is about more than genetic testing. It can obviously be about that, and a genetic counselor would be a good person to discuss genetic testing with, but we meet with people where genetic testing isn't on the table at all.”

“I think that there is an element of education in many genetic counseling sessions or interpretation but also in many circumstances, there’s what we call establishing a therapeutic relationship, where you do the counseling side of it.”

Continuing on this theme, Hercher points out a key aspect of genetic counseling and something which is crucial to the consent process but often forgotten amongst the hype surrounding genetic testing.

“We [genetic counselors] don't take for granted that somebody will want genetic testing. They have the right to say no – these are shared norms in genetics in the UK and the US.”

However, in Jodie’s case, she has expressed interest in genetic testing. How does a genetic counselor go about establishing informed consent for this?

“You have to consider both of these two very basic things,” Hercher begins. “Make sure the person has an understanding of what genetic testing may tell them and also have an understanding of what genetic testing may not tell them.

“These are very important to understand because, number one, you don't want someone to walk away from the experience saying, "Okay, great, I've been tested. I don't have a disease”, if that isn't comprehensive.

“Number two, we want to talk about what the test will show the patient, both in terms of setting up correct expectations – that's consent – but also by identifying additional things they might find out that are not necessarily the goals of testing.”

“Consent may be more appropriately seen as an ongoing conversation that needs updating and clarifying where necessary, rather than as a single historical event that needs to be revisited.”
–  Report from the Joint Committee on Genomics in Medicine

Secondary findings

On our hunt through the genome for answers about a particular disease, it’s possible to come across information that wasn’t considered relevant to the main purpose of testing.

The discovery described above is known as a secondary finding, meaning that whilst its identification may not have been the main goal of the test, its presence was actively sought. This is different to an “incidental” finding, although the terms are often used interchangeably.

The potential for secondary findings demonstrates how consent in genetic testing isn’t as simple as a single “yes” or “no” answer. The decision to actively look for other variants and have them reported back provides an additional layer of consideration to the consent process.

In 2013, the American College of Medical Genetics and Genomics (AMCG) published recommendations for the responsible handling of incidental findings emerging from clinical exome or genome sequencing. This includes clinicians being responsible for alerting patients to the possibility that sequencing could result in incidental findings, and that these may warrant further investigation.¹

“A proper informed consent for genetic testing would give the person a notion of what they might encounter as a part of testing, and what choices they have, about what [testing or results] they can get and what not to get, if there are choices available in the setting in which you're operating.”

Jodie doesn’t just have a decision to make about whether or not she wants the test, she also has to consider what results she would want reported back to her. The availability of choice is an important one because of the potential implications, both physically and mentally, of being given information you weren’t expecting or didn’t want to receive.

Jodie’s results show that she, and potentially her first-degree relatives, are at a high risk of developing breast and/or ovarian cancer. Although it isn’t a guarantee that she would develop those diseases, this knowledge could impact upon decisions she makes about her healthcare. For people carrying a disease-associated BRCA mutation, preventative, albeit drastic, surgical measures may be available, including mastectomies and oophorectomies.

Preventative surgery, or even just knowing that you may develop a disease can also take an emotional toll. In addition, a patient could find out that they have variation that means they will develop a condition at some point in their lifetime, such as Huntington’s disease. This may have an impact on mental health if there are currently very limited or no treatment options for the condition diagnosed, although further and continual research needs to be conducted to assess the extent of such an impact.

Secondary findings can also emerge with advances in research; a variant that may not have been considered a pathogenic variant before could be considered so in the future, or vice versa. Patients like Jodie would need to think about whether they would want to be re-contacted with new or updated information.

That’s a lot of factors for someone to consider before consenting. How can we simplify consent to account for all of those decisions and outcomes, if it’s even possible?

Improving the process

From what I’ve learned speaking with Laura, it seems that the key aspect underpinning consent is effective genetic counseling – giving people all of the “clinical” information they need to consider, but also taking into account that genetic testing goes beyond the science. In practice, it involves everyday people with thoughts, feelings and families, all of which factor into their decision to even undergo a test, let alone find out results.

This requires time – something which the healthcare system doesn’t always have enough of. How do we create a process that works for both clinicians and patients?

“The answers people are coming up with tend to be that we need better tools,” Hercher tells me. “And that includes online or digital tools that would allow people to interact with the information. You know, if you sit somebody down and spout off 15 minutes’ worth of information, dense information, you're not doing anything for them.”

“So, what's needed to improve the situation is new tools that allow people to tackle it over time, at their own pace, exploring what they want to and when. That would optimize the situation for both the caregiver and the patient. And allow them to go back to it [the information] to refresh their memory and so on. The optimal consent process is not "let's decide everything we can fit into this space of time – consent, optimally, is an ongoing process.”

Research conducted in the UK seems to agree. A recent report from the Joint Committee on Genomics in Medicine sums it up nicely:

“Consent may be more appropriately seen as an ongoing conversation that needs updating and clarifying where necessary, rather than as a single historical event that needs to be revisited.”

Reference

1. Green et al. (2013). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine. DOI: https://doi.org/10.1038/gim.2013.73