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Genetic Alliance Finds Cancer Patients Want Genetic Info, Receptive to Participating in Research


NEW YORK (GenomeWeb) – Considering a future where whole-genome sequencing is routine for cancer patients, researchers with Genetic Alliance UK sought to understand what cancer patients expected, wanted, and were concerned about with regards to the technology in order to make recommendations to the UK's National Health Service

Over the course of six weeks earlier this year, Genetic Alliance UK ran a project it called My Cancer, My DNA to engage with cancer patients and their families, and recently published the results of that study in a patient charter. The results add to a growing body of evidence suggesting that individuals want their genetic information, the researchers found. In addition, they found that cancer patients are eager to participate in genomic research projects, but want to be engaged and have the option of receiving their own results.

Genetic Alliance UK embarked on the study in order to inform the 100,000 Genomes Project as well as future clinical use of sequencing. As part of the 100,000 Genomes Project, researchers are sequencing the whole genomes of 25,000 cancer patients in order to figure out how to incorporate sequencing into clinical care. Although it is a research project, the plan is to return at least some results — primarily those that could inform treatment — back to patients.

The National Institute for Health Research Biomedical Research Center at the Royal Marsden NHS Foundation Trust as well as the Institute of Cancer Research provided funding for the My Cancer, My DNA project.

The idea was to get patients' "views on topics that are quite ethically charged and to inform future research projects and the [transition] of genome sequencing into mainstream healthcare," Mariana Campos, public engagement and project manager of Genetic Alliance UK, told GenomeWeb.

A total of 87 individuals consented to the study, 70 percent of whom had cancer and 28 percent of whom had been diagnosed with a predisposition to cancer. The vast majority, 86 percent, were female.

Genetic Alliance UK recruited patients through its own membership and also collaborated with the other cancer charities to recruit patients.

The researchers then held three online surveys — one concerning receiving information on additional findings, another on data sharing and privacy, and a third that asked for evaluations of the overall project. In addition, the researchers conducted two online chat sessions where patients were able to speak with genetic counselors and researchers. 

The researchers found that overall participants had a good understanding of basic genetics. Importantly, they found that patients understood that containing a cancer predisposition mutation did not mean that they were destined to get cancer. However, Genetic Alliance UK noted that the participants were a self-selecting group, so likely already had a pre-existing interest in genetics.

Similar to other studies that have looked at the preferences of both patients and individuals who participate in research studies, most wanted at least some information back. Of 63 people who answered a question with regards to getting feedback from research, only eight did not want any information about personal findings. Four patients wanted information only if it was relevant to their cancer treatment, while the remainder wanted a range of results related to both their cancer to other health conditions. Nineteen individuals wanted any and all information.

In addition, 66 percent of individuals wanted to be able to choose which additional findings it received back, while 31 percent thought there should be a standard set of additional findings that everyone received. Currently, within the 100,000 Genomes Project, patients can consent to additional findings, which includes information related to familial hypercholesterolemia and other cancer predisposition genes. However, many patients who participated in the survey were more interested in a dynamic consent — choosing which conditions to opt in or out of.

Most individuals, 64 percent, preferred to receive results via email with none wanting results over the telephone and 17 percent and 19 percent wanting results via regular mail and in-person, respectively. Currently, however, within the NHS genetic test results cannot be delivered by email, the authors noted. And, despite patient preferences for emailed results, the authors noted that the risk of "misinterpretation and mishandling of information is great," and that other challenges include the "complexity of genetic testing and the impact findings can have on family members." Nevertheless, they noted that the NHS may need to reevaluate how it delivers genetic test results to patients.

Interestingly, Campos said, although many patients wanted information that was not directly related to their cancer and cancer treatment, if the process of getting that information would cause delay to or significantly increase the cost of the cancer research, patients did not want the information. Overall, "patients were very supportive of genomics cancer research," she said, and showed that they were "thinking altruistically and about the bigger picture."

Another somewhat surprising finding that Campos said would help direct future research recruitment strategies was that the patients preferred having the cancer charities involved in communicating with them about results. Genetic Alliance UK worked with other charities for the project, including Cancer Research UK, Bloodwise, Breast Cancer Now, and Cancer52. The patients "wanted us and the other charities involved to inform them about what genome sequencing is, its impact, and the results because it's such a complex topic," Campos said. That was useful information to find out because the 100,000 Genome Project initially struggled to recruit cancer patients, and while it recently began working with CRUK, Campos said this study made it clear that the project would also benefit from working with other charities.

Another important facet, the study found, was that it would be important to establish more streamlined testing pathways. For instance, the report noted that individuals who get tested for cancer predisposition variants often receive the testing from a specialist genetics clinic. But, somatic mutation testing tends to be arranged by oncologists and while such tests often reveal germline mutations in cancer predisposition genes, those findings are not always included in the tumor testing report. "The responses of our participants suggest these pathways might benefit from revision and integration to improve cancer care, meet patient needs, and provide more patient choice," the report authors noted.

Campos said that Genetic Alliance UK is now working with Genomics England to take the project's findings into account as the 100,000 Genomes Project progresses. In addition, she said, they would be working with policy makers to incorporate recommendations into the country's healthcare policy. Genetic Alliance UK is now also working with Genomics England on a project on data privacy, talking to patients about who should have access to genomic data and how that access should be regulated.

While it is still early days for clinical whole-genome sequencing, "it will have a big impact on cancer care and personalizing treatment," she said.