Are At-Home Genomic Tests Such as 23andMe Ethical?

Cheryl VerStrate, DNP, AGPCNP-BC, OCN

As direct-to-consumer genomic testing continues to grow in popularity, more patients with cancer are likely to deny genetic counseling services and opt instead for testing through 23andMe or Family Tree DNA, for example.¹ However, according to Cheryl VerStrate, DNP, AGPCNP-BC, OCN, oncology nurses should be prepared to discuss the shortcomings of these tests and explain why genetic counseling is preferred, whenever possible.^1-5

“They often look to nurses to answer those questions,” she said, in an interview. “We need to be prepared to give comprehensive, ethically sound education and answers about this testing for patients and their families.”

VerStrate, is a hematology/oncology nurse practitioner with a background in cancer genetics and an assistant professor at the Kirkhof College of Nursing at Grand Valley State University in Grand Rapids, Michigan. Recently, she co-authored an article that was published in the Clinical Journal of Oncology Nursing, highlighting the disadvantages of at-home genomic tests. In an interview with Oncology Nursing News, VerStrate walked through the implications of her research and what oncology nurses need to know about this topic.

Oncology Nursing News: Can you provide some context for the research? Were you finding that patients in your practice have been interested in these tests?

VerStrate: I have been interested in exploring direct-to-consumer genetic testing because it has really exploded in popularity. This technology has advanced—it is much more available and much more affordable than it has been in the past. It is now much more accessible to the general population.

In addition, [there has been] an increased community awareness of germline genetic testing. In pop culture, we have Beyonce’s parent getting genetic testing, and Angelina Jolie had testing and was very public about her journey with BRCA1. The general population is just much more aware of this opportunity, and generally, our society is one that does not like gatekeepers. More and more individuals are doing their own research, and they are making medical decisions outside of clinical settings. This is exacerbated when we have companies targeting them, and advertising and using those other marketing practices.

From my perception as a community member, as my relatives, as my patients were bringing questions, it was something that I was not really allowed to have a knowledge deficit in. I had to get comfortable having those conversations. With this publication, I hoped to shed some light on the risks associated with the direct-to-consumer testing and address some of those common misconceptions.

What is the appeal of direct-to-consumer genomic testing?

Consumers often perceive direct-to-consumer genomic testing to be cheaper and more convenient, because now they do not have to go through a referral process, they do not have to wait for an appointment, [which are] associated with testing in a clinical setting. They might perceive it to be more convenient. They also might think that their results are going to be kept confidential because perceive this to just be between them and this company, and it's up to them to share that information with their health care provider. They might feel that they have a little bit more control over who gets that information and who they get to share their findings with.

What are the limitations of these tests?

There are a lot of risks associated with this type of testing. My greatest concern is that, from a clinical standpoint, patients can assume they are going to receive clear, accurate health information to aid their decision making. You know, this goes back to making medical decisions outside of the clinical setting without the guidance of a genetic counselor or a clinical care team. And these results, these direct-to-consumer test results really should not be used to make medical decisions; often their analysis is inadequate, and results are more likely to be miscommunicated misinterpreted, especially when we remove that healthcare professional from the testing process.

In addition, when we remove that person from the process, we're not as likely to have pre- and posttest counseling. That really has significant implications on what kind of informed consent our patients really having: do they have a true awareness and understanding of what their genomic data is going to be used for? How does HIPAA apply in this setting? Does it apply when we are talking about genomic data that clearly identifies you? I talk to my relatives, and I say, “I can make this decision not to do this testing. But it doesn't matter if my sisters get tested because we share DNA, right?” So there are all these kinds of ethical implications that can be impacted too, not to mention the potential of the psychological component of getting results that you're unprepared for that you do not know how to interpret on your own. And you're using Dr. Google to kind of sort that out.

What are some of the ethical considerations that nurses should be aware of with these tests?

I have had patients decline testing in the clinical setting because they have had direct-to-consumer testing done in the past, and they felt that that was adequate and comprehensive enough.

I have been in a position where you almost feel like you are set up for failure. You get a patient referred to you, you are trying to counsel them, you are trying to establish this rapport, and you are trying to garner their trust. If they have already had testing, you are trying to convince them why you are relevant, why you have something to add, why their previous decision should not be used in this setting, [and] why we cannot use those results. That is assuming the patient shows up to your visit.

There was a study out of Stanford 5 years ago that looked at the misinterpretation of results in women getting surgery for breast cancer. Patients had genetic testing, [and the results showed] that they [were not at] any greater risk for recurrence of their breast cancer than the general population. But surgeons misinterpreted those findings and thought that they had a much higher risk. These patients were encouraged to undergo a much more aggressive and invasive surgery, with associated risks and surgical complications, than was necessary.²

If we have healthcare professionals that are struggling to interpret these findings even in the clinical setting, then we are only going to exacerbate that when we remove professionals and [have] patients do this testing on their own. I would say the real-life example that I'd be most concerned about, is patients undergoing unnecessary invasive procedures with significant risk and [postoperative] complications based on a misinterpretation or inadequate information.

At what point in the patient’s journey are you usually meeting with them?

It depends. Sometimes it is at the end of the journey, where patients are in a survivorship clinic, and the survivorship provider is saying, “Oh, we never had testing, or we had genetic testing 20 years ago, and maybe we should update that testing.” In breast cancer, it is usually early in the process, because we have this fork in the road often, [where we ask:] are we going to go with a breast conservation, a minimally invasive surgery? And [will] these results help decide if we feel comfortable going a less invasive route or [if] we think this individual is at really high risk?

As PARP inhibitor therapy is becoming more used, we are doing a lot of genetic counseling and testing in the “middle” of a patient's treatment journeys. We have kind of exhausted our [other] options, but we want to know [if] are they eligible for these [PARP inhibitors].

I have also performed counseling for patients that are about to go on hospice, and [who] want that information for their families. It really could be anywhere along that journey. It might be someone who does not have a cancer diagnosis but has a really strong family history. I meet a lot of families and interact with patients all along that journey.

In your opinion, what are the implications for oncology nursing practice?

This is not something we can afford to have personal knowledge deficits. We have to be aware that our patients are going to do this, whether it makes us comfortable or not. We have to be aware of the risks as patients become more and more autonomous, so that we can educate them. We have to know that that [this] type of testing is often using inadequate technology. It is not necessarily comprehensive clinical testing for germline risk. We have to be able to communicate that to our patients.

They see the physician in the office, and then they remember all their questions…when they get to their radiation oncology appointment or their postop appointment or to [receive] their chemotherapy infusion. They really rely on nurses and nurse navigators for that education.

References

1. VerStrate CA, Mahon SM. Direct-to-consumer genomic testing through an ethics lens: oncology nursing considerations. Clin J Oncol Nurs. 2023;27(4):380-388. doi:10.1188/23.CJON.380-388
2. Kilbride MK, Bradbury AR. Evaluating web-based direct-to-consumer genetic tests for cancer susceptibility. JCO Precision Oncology. 2020;4:161–169. doi:10.1200/PO.19.00317
3. Raz AE, Niemiec E, Howard HC, Sterckx S, Cockbain J, Prainsack B. Transparency, consent and trust in the use of customers’ data by an online genetic testing company: an exploratory survey among 23andMe users. new genetics and society. 2020;39(4):459–482. doi:10.1080/14636778.2020.1755636
4. Daviet R, Nave G, Wind J. Genetic data: potential uses and misuses in marketing. J. Mark. 2022;86(1):7–26. doi:10.1177/0022242920980767
5. Underhill-Blazey M, Klehm MR. Genetic discrimination: the Genetic information nondiscrimination act’s impact on practice and research. Clin. J Oncol Nurs. 2020;24(2):135–137. doi:10.1188/20.CJON.135-137
6. Jagsi R, Hawley ST, Griffith KA, et al. Contralateral prophylactic mastectomy decisions in a population-based sample of patients with early-stage breast cancer. JAMA Surg. 2017;152(3):274-282. doi:10.1001/jamasurg.2016.4749