Study Evaluates Patient/Oncologist Perceptions of Whole-Exome Sequencing in Advanced Cancer
A majority of people with advanced cancer want to hear findings from DNA sequencing and to learn how those results may affect their health and treatment options, Dana-Farber Cancer Institute scientists report. Their findings were reported by Gray et al in Genetics in Medicine.
The discovery highlights the need to improve patient education about genomics and to boost the resources available for the oncologists who interpret and present these findings to the patients.
Given the high stresses on patients with advanced disease, health-care providers may worry about placing the burden of additional information on them, noted Stacy Gray, MD, AM, a Dana-Farber oncologist and lead author of the study. But in general, Dr. Gray said, “people just want to know.”
In the study, 167 patients with stage IV lung or colorectal cancer described their preferences about learning data from whole-exome sequencing of both their tumors and their normal cells. The study is one of the first to survey advanced cancer patients in detail about their preferences in hearing results from such tests.
Key Findings
At least 95% of the patients asked to learn about results that could help to select a clinical trial for them; to understand how their genes could affect their response to drugs; to suggest their inherited predispositions to cancer and treatable noncancer conditions; and that indicated positive prognostic results (giving them a more favorable outlook than the average case in this type of cancer).
A slightly smaller set of patients, around 84%, wanted to hear about negative prognostic results, and 86% wanted to learn about results suggesting that they had inherent predispositions to untreatable noncancer conditions.
Although the patients were a relatively well-educated group, they demonstrated moderately low knowledge of genomics, Dr. Gray said. For instance, a sizable minority did not know that genetic testing can aid in evaluating cancer risk.
Better understanding of genomic test results can empower cancer patients to participate more actively in their own care, emphasized Dr. Gray, who called for “a patient-centered perspective of what the information means.”
Physician Responses
The study conducted separate interviews of 27 Dana-Farber oncologists who treated these patients and found quite varied opinions about disclosing genomic test results to patients. Among these physicians, 78% were in favor of disclosing clinically valid genomics results, and 67% supported disclosing these results even if they lacked clinical utility but were cases where a relationship between genotype and phenotype had been established. Additionally, 52% said that patients should be given full access to any results they requested. (Actual disclosures to the patients in the study followed the patients’ declared preferences.)
Providers showed more hesitation when they anticipated disclosing genomic results that would not affect treatments and could raise psychological or psychosocial issues that might call for counseling support. Finding the right match of information to provide is a familiar challenge for oncologists, Dr. Gray noted.
Many of the surveyed oncologists worried about their difficulty in keeping up with complex and ever-changing genomic information and being able to act on it quickly and translate it for patients, families, and friends. These concerns were particularly strong among physicians with limited experience in interpreting sequenced DNA data for normal cells.
Scientific advances in genomics underlie the enormous promise of “precision medicine” programs. “With precision medicine, for example, our treatments for lung cancers have dramatically improved for a subset of cancer patients where we can identify a set of genomic alterations and treat them with targeted therapies,” Dr. Gray said.
Additionally, sequencing DNA in a patient’s normal cells, as was done in this study, will aid in preventing certain cancers by identifying people at high risk of developing them. “The potential of this sequencing to help prevent cancer in patients and their families is potentially very high,” Dr. Gray concluded.
The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.
